Variant report

Variant	esv3329842
Chromosome Location	chr2:113402506-113405054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:932)
CpG islands
(count:671)
Chromatin interactive
region (count:46)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:932 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:113403017-113403634	K562	blood:	n/a	n/a
2	ARID3A	chr2:113401680-113403636	HepG2	liver:	n/a	n/a
3	ATF1	chr2:113402945-113403537	K562	blood:	n/a	n/a
4	ATF2	chr2:113402942-113403691	GM12878	blood:	n/a	n/a
5	ATF3	chr2:113402681-113403663	GM12878	blood:	n/a	chr2:113403407-113403421
6	ATF3	chr2:113403133-113403370	GM12878	blood:	n/a	n/a
7	ATF3	chr2:113403379-113403626	HepG2	liver:	n/a	chr2:113403407-113403421
8	ATF3	chr2:113402744-113403597	K562	blood:	n/a	chr2:113403407-113403421
9	BACH1	chr2:113402978-113403037	K562	blood:	n/a	n/a
10	BACH1	chr2:113402870-113404599	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr2:113403015-113403305	GM12878	blood:	n/a	n/a
12	BCL3	chr2:113402609-113403415	A549	lung:	n/a	n/a
13	BCL3	chr2:113402516-113403776	A549	lung:	n/a	chr2:113403745-113403758
14	BCL3	chr2:113403003-113403984	GM12878	blood:	n/a	chr2:113403745-113403758 chr2:113403846-113403859 chr2:113403816-113403829 chr2:113403877-113403890 chr2:113403967-113403976
15	BCLAF1	chr2:113402980-113404127	GM12878	blood:	n/a	chr2:113403745-113403758 chr2:113403846-113403859 chr2:113403816-113403829 chr2:113403877-113403890 chr2:113403967-113403976
16	BCLAF1	chr2:113402947-113403996	GM12878	blood:	n/a	chr2:113403745-113403758 chr2:113403846-113403859 chr2:113403816-113403829 chr2:113403877-113403890 chr2:113403967-113403976
17	BHLHE40	chr2:113402483-113403713	K562	blood:	n/a	n/a
18	BHLHE40	chr2:113403937-113404134	K562	blood:	n/a	n/a
19	BHLHE40	chr2:113402580-113404182	GM12878	blood:	n/a	chr2:113403746-113403762
20	BHLHE40	chr2:113401618-113404082	HepG2	liver:	n/a	chr2:113403746-113403762
21	BRCA1	chr2:113402507-113403689	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr2:113403443-113403693	GM12878	blood:	n/a	n/a
23	BRCA1	chr2:113403078-113403680	HepG2	liver:	n/a	n/a
24	CBX3	chr2:113402916-113403293	K562	blood:	n/a	n/a
25	CBX3	chr2:113402287-113403745	K562	blood:	n/a	n/a
26	CCNT2	chr2:113402673-113404176	K562	blood:	n/a	chr2:113404126-113404135
27	CEBPB	chr2:113403062-113403360	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr2:113402910-113403687	HepG2	liver:	n/a	n/a
29	CEBPB	chr2:113403013-113403354	K562	blood:	n/a	n/a
30	CEBPB	chr2:113404397-113404626	K562	blood:	n/a	n/a
31	CEBPB	chr2:113403094-113403552	HepG2	liver:	n/a	n/a
32	CEBPB	chr2:113403519-113403623	K562	blood:	n/a	n/a
33	CEBPB	chr2:113402599-113403682	Hela-S3	cervix:	n/a	n/a
34	CEBPD	chr2:113403293-113403706	HepG2	liver:	n/a	n/a
35	CEBPD	chr2:113402680-113403801	HepG2	liver:	n/a	n/a
36	CEBPD	chr2:113403055-113403805	K562	blood:	n/a	n/a
37	CEBPD	chr2:113402731-113403076	HepG2	liver:	n/a	n/a
38	CEBPZ	chr2:113401708-113402577	HepG2	liver:	n/a	n/a
39	CHD1	chr2:113404294-113404562	H1-hESC	embryonic stem cell:	n/a	chr2:113404360-113404367
40	CHD1	chr2:113402587-113403261	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD1	chr2:113404964-113404968	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD1	chr2:113403512-113403940	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr2:113401468-113406380	IMR90	lung:	n/a	chr2:113404360-113404367
44	CHD1	chr2:113402987-113404068	GM12878	blood:	n/a	n/a
45	CHD2	chr2:113402634-113403668	GM12878	blood:	n/a	n/a
46	CHD2	chr2:113403944-113404108	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr2:113403985-113404176	GM12878	blood:	n/a	n/a
48	CHD2	chr2:113403091-113404232	K562	blood:	n/a	n/a
49	CHD2	chr2:113404493-113404840	K562	blood:	n/a	n/a
50	CHD2	chr2:113402489-113403981	HepG2	liver:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:113402615-113402665	AG09319	gingival:	n/a
2	chr2:113403145-113403195	NT2-D1	testis:	n/a
3	chr2:113404078-113404128	AG04450	lung:	fetal
4	chr2:113402680-113402730	ECC-1	luminal epithelium:	n/a
5	chr2:113403248-113403298	CMK	blood:	n/a
6	chr2:113403145-113403195	NH-A	brain:	n/a
7	chr2:113404661-113404711	HMEC	breast:	n/a
8	chr2:113402680-113402730	ovcar-3	ovarian:	n/a
9	chr2:113402615-113402665	HIPEpiC	eye:	n/a
10	chr2:113402615-113402665	K562	blood:	n/a
11	chr2:113403145-113403195	PANC-1	pancreas:	n/a
12	chr2:113404519-113404569	IMR90	lung:	fetal
13	chr2:113404519-113404569	LNCaP	prostate:	n/a
14	chr2:113402680-113402730	SK-N-SH_RA	brain:	n/a
15	chr2:113403454-113403504	HCT-116	colon:	n/a
16	chr2:113403002-113403052	SK-N-SH_RA	brain:	n/a
17	chr2:113404078-113404128	HL-60	blood:	n/a
18	chr2:113403454-113403504	AG09309	skin:	n/a
19	chr2:113403145-113403195	HCT-116	colon:	n/a
20	chr2:113404519-113404569	Jurkat	blood:	n/a
21	chr2:113404519-113404569	A549	lung:	n/a
22	chr2:113403002-113403052	HAEpiC	amniotic membrane:	n/a
23	chr2:113403454-113403504	RPTEC	kidney:	n/a
24	chr2:113404519-113404569	HMEC	breast:	n/a
25	chr2:113403533-113403583	BJ	skin:	n/a
26	chr2:113403533-113403583	Caco-2	colon:	n/a
27	chr2:113404661-113404711	NH-A	brain:	n/a
28	chr2:113404661-113404711	BJ	skin:	n/a
29	chr2:113403248-113403298	GM12892	blood:	n/a
30	chr2:113403145-113403195	HRPEpiC	eye:	n/a
31	chr2:113404519-113404569	HL-60	blood:	n/a
32	chr2:113404519-113404569	H1-hESC	embryonic stem cell:	embryo
33	chr2:113402615-113402665	Jurkat	blood:	n/a
34	chr2:113403248-113403298	ECC-1	luminal epithelium:	n/a
35	chr2:113403454-113403504	HCF	heart:	n/a
36	chr2:113402615-113402665	HCF	heart:	n/a
37	chr2:113404519-113404569	SK-N-SH_RA	brain:	n/a
38	chr2:113404078-113404128	GM12878	blood:	n/a
39	chr2:113402615-113402665	PFSK-1	brain:	n/a
40	chr2:113402615-113402665	Caco-2	colon:	n/a
41	chr2:113403454-113403504	SKMC	muscle:	n/a
42	chr2:113404678-113404728	RPTEC	kidney:	n/a
43	chr2:113404519-113404569	HCM	heart:	n/a
44	chr2:113404661-113404711	NHBE	bronchial:	n/a
45	chr2:113403145-113403195	A549	lung:	n/a
46	chr2:113403248-113403298	K562	blood:	n/a
47	chr2:113404678-113404728	NT2-D1	testis:	n/a
48	chr2:113403145-113403195	AG04449	skin:	fetal
49	chr2:113403145-113403195	ProgFib	skin:	n/a
50	chr2:113403454-113403504	NT2-D1	testis:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113385173..113386077-chr2:113402039..113402607,2	Hela-S3	cervix:
2	chr2:113339547..113342143-chr2:113401632..113406213,6	K562	blood:
3	chr2:113403244..113403895-chr7:1199601..1200551,2	Hela-S3	cervix:
4	chr2:113402414..113404382-chr2:113520815..113523652,2	MCF-7	breast:
5	chr2:113298010..113299910-chr2:113402044..113405043,2	MCF-7	breast:
6	chr2:113401171..113414378-chr2:113468812..113486672,46	K562	blood:
7	chr16:81040308..81041240-chr2:113403250..113403767,2	Hela-S3	cervix:
8	chr2:113340479..113344233-chr2:113401874..113407323,6	MCF-7	breast:
9	chr10:69834544..69835281-chr2:113403250..113404083,2	Hela-S3	cervix:
10	chr2:113403372..113403964-chr5:159625988..159626508,2	MCF-7	breast:
11	chr2:113402780..113403558-chr8:101964407..101965358,2	Hela-S3	cervix:
12	chr2:113345940..113348650-chr2:113401824..113404479,3	MCF-7	breast:
13	chr2:113339547..113343883-chr2:113402286..113405078,6	K562	blood:
14	chr2:113400910..113403720-chr2:113487016..113489171,3	K562	blood:
15	chr2:113403244..113403947-chr4:39640189..39640861,2	Hela-S3	cervix:
16	chr2:113400575..113405879-chr2:113475243..113481233,15	K562	blood:
17	chr1:37939793..37940776-chr2:113402998..113403567,2	Hela-S3	cervix:
18	chr2:113403194..113403870-chr3:169490961..169491587,2	Hela-S3	cervix:
19	chr2:113297646..113299646-chr2:113402192..113403846,2	K562	blood:
20	chr2:113403043..113403839-chr5:137514078..137514905,2	NB4	blood:
21	chr11:85955611..85956491-chr2:113404861..113405378,2	Hela-S3	cervix:
22	chr2:113342174..113343883-chr2:113403461..113405044,2	K562	blood:
23	chr2:113401688..113406035-chr2:113480430..113485744,11	MCF-7	breast:
24	chr12:32552467..32553163-chr2:113403051..113404044,2	Hela-S3	cervix:
25	chr2:113402862..113403733-chrX:77358921..77359879,2	HCT-116	colon:
26	chr2:113340437..113343949-chr2:113401268..113406617,9	MCF-7	breast:
27	chr2:113403189..113403992-chr3:45635124..45636083,2	Hela-S3	cervix:
28	chr2:113032268..113033936-chr2:113402354..113404096,2	K562	blood:
29	chr15:64679349..64679958-chr2:113402741..113403595,2	NB4	blood:
30	chr2:113403501..113404094-chrX:49041066..49041722,2	Hela-S3	cervix:
31	chr2:113401788..113407326-chr2:113480776..113487899,15	MCF-7	breast:
32	chr2:113403522..113405036-chr2:113540751..113543227,2	MCF-7	breast:
33	chr2:113403176..113405002-chr2:113522178..113523741,2	K562	blood:
34	chr2:113298042..113299646-chr2:113402346..113405215,2	K562	blood:
35	chr17:80055916..80056452-chr2:113402977..113403764,2	Hela-S3	cervix:
36	chr2:112811018..112813475-chr2:113401964..113404333,2	K562	blood:
37	chr2:113399891..113407010-chr2:113481534..113486055,14	K562	blood:
38	chr2:113403078..113403790-chr9:3525889..3526529,2	NB4	blood:
39	chr2:113402977..113403864-chr8:134309881..134310413,2	Hela-S3	cervix:
40	chr12:46777381..46778114-chr2:113403376..113403944,2	Hela-S3	cervix:
41	chr12:6862235..6862767-chr2:113403067..113404026,2	HCT-116	colon:
42	chr2:113346825..113348931-chr2:113402265..113404788,2	MCF-7	breast:
43	chr17:47865674..47866418-chr2:113404707..113405311,2	Hela-S3	cervix:
44	chr2:113403023..113403716-chr8:99057580..99058281,2	HCT-116	colon:
45	chr2:113031185..113034291-chr2:113402354..113405026,3	K562	blood:
46	chr2:113379636..113386577-chr2:113398111..113406278,16	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CKAP2L-1	chr2:113402475-113403268	NONHSAT073715
2	lnc-CKAP2L-1	chr2:113403007-113403306	XLOC_002275
3	lnc-SLC20A1-1	chr2:113403092-113403284	XLOC_001627
4	lnc-CKAP2L-1	chr2:113401556-113403368	NONHSAT073714
5	lnc-CKAP2L-1	chr2:113403007-113403284	XLOC_002275
6	lnc-SLC20A1-1	chr2:113402607-113402992	XLOC_001627
7	lnc-CKAP2L-1	chr2:113402609-113402900	XLOC_002275
8	lnc-CKAP2L-1	chr2:113401676-113403267	ENSG00000237753

No data

Variant related genes	Relation type
SLC20A1	TF binding region
ENSG00000237753	TF binding region
SLC20A1	CpG island
ENSG00000237753	CpG island
ENSG00000102144	chromatin interactions
ENSG00000104419	chromatin interactions
ENSG00000080298	chromatin interactions
ENSG00000085274	chromatin interactions
ENSG00000255458	chromatin interactions
ENSG00000121104	chromatin interactions
ENSG00000103671	chromatin interactions
ENSG00000148634	chromatin interactions
ENSG00000112984	chromatin interactions
ENSG00000257261	chromatin interactions
ENSG00000169710	chromatin interactions
ENSG00000144130	chromatin interactions
ENSG00000164924	chromatin interactions
ENSG00000115008	chromatin interactions
ENSG00000178381	chromatin interactions
ENSG00000153214	chromatin interactions
ENSG00000228251	chromatin interactions
ENSG00000163874	chromatin interactions
ENSG00000136504	chromatin interactions
ENSG00000139132	chromatin interactions
ENSG00000112983	chromatin interactions
ENSG00000247699	chromatin interactions
ENSG00000188177	chromatin interactions
ENSG00000166451	chromatin interactions
ENSG00000233621	chromatin interactions
ENSG00000163683	chromatin interactions
ENSG00000169607	chromatin interactions
ENSG00000125611	chromatin interactions
ENSG00000229043	chromatin interactions
ENSG00000125630	chromatin interactions
ENSG00000144791	chromatin interactions
ENSG00000170231	chromatin interactions
ENSG00000103121	chromatin interactions
ENSG00000074266	chromatin interactions
ENSG00000243389	chromatin interactions
ENSG00000089693	chromatin interactions
ENSG00000166803	chromatin interactions
ENSG00000156482	chromatin interactions
ENSG00000012211	chromatin interactions
ENSG00000231747	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562456759	chr2:113402506-113402507	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
2	rs138839800	chr2:113402507-113402508	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
3	rs545260942	chr2:113402528-113402529	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
4	rs1061254	chr2:113402530-113402531	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs527855670	chr2:113402551-113402552	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
6	rs547628923	chr2:113402574-113402575	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
7	rs150747322	chr2:113402588-113402589	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
8	rs536510812	chr2:113402625-113402626	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
9	rs7561084	chr2:113402653-113402654	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
10	rs558020895	chr2:113402716-113402717	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
11	rs142781444	chr2:113402741-113402742	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
12	rs75190486	chr2:113402761-113402762	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
13	rs539072318	chr2:113402763-113402764	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
14	rs373032024	chr2:113402868-113402869	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
15	rs571745444	chr2:113402929-113402930	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
16	rs377367734	chr2:113402933-113402934	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
17	rs373525666	chr2:113402936-113402937	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
18	rs377060648	chr2:113402938-113402939	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
19	rs529942296	chr2:113402939-113402940	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
20	rs553970757	chr2:113402940-113402941	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
21	rs573758380	chr2:113402944-113402945	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
22	rs536316375	chr2:113402981-113402982	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
23	rs555998775	chr2:113402988-113402989	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
24	rs575976494	chr2:113403006-113403007	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
25	rs371020794	chr2:113403020-113403021	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
26	rs544632761	chr2:113403052-113403053	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
27	rs565231989	chr2:113403080-113403081	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
28	rs3936697	chr2:113403092-113403093	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs541333356	chr2:113403190-113403191	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
30	rs561507120	chr2:113403206-113403207	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
31	rs17515708	chr2:113403263-113403264	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs550236110	chr2:113403301-113403302	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	34 gene(s)	Overlapped CNVs	n/a
33	rs17515715	chr2:113403306-113403307	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	34 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs532547961	chr2:113403309-113403310	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	34 gene(s)	Overlapped CNVs	n/a
35	rs575678658	chr2:113403399-113403400	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
36	rs552644053	chr2:113403403-113403404	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
37	rs573010554	chr2:113403424-113403425	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
38	rs534033855	chr2:113403425-113403426	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
39	rs547396782	chr2:113403482-113403483	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
40	rs567419752	chr2:113403484-113403485	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
41	rs536092010	chr2:113403505-113403506	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
42	rs531708471	chr2:113403547-113403548	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
43	rs149347369	chr2:113403634-113403635	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
44	rs368414147	chr2:113403635-113403636	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
45	rs11123144	chr2:113403662-113403663	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs540422015	chr2:113403668-113403669	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
47	rs575775999	chr2:113403726-113403727	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
48	rs538234833	chr2:113403746-113403747	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
49	rs148427539	chr2:113403765-113403766	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
50	rs558088865	chr2:113403811-113403812	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113385000-113402600	Weak transcription	Esophagus	oesophagus
2	chr2:113399200-113402600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:113399200-113402600	Weak transcription	Lung	lung
4	chr2:113399200-113402600	Weak transcription	Pancreas	Pancrea
5	chr2:113400200-113402600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:113401200-113402800	Flanking Active TSS	K562	blood
7	chr2:113401400-113402800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:113401400-113402800	Flanking Active TSS	Osteobl	bone
9	chr2:113401600-113402600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:113401600-113402600	Weak transcription	Small Intestine	intestine
11	chr2:113401600-113402800	Flanking Active TSS	Hela-S3	cervix
12	chr2:113401800-113402600	Flanking Active TSS	A549	lung
13	chr2:113401800-113402800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr2:113401800-113402800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:113401800-113402800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr2:113401800-113402800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:113401800-113402800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr2:113401800-113402800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr2:113401800-113402800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr2:113401800-113402800	Flanking Active TSS	HMEC	breast
21	chr2:113401800-113402800	Flanking Active TSS	NH-A	brain
22	chr2:113401800-113403200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:113402000-113402600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:113402000-113402600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
25	chr2:113402000-113402600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr2:113402000-113402600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr2:113402000-113402600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:113402000-113402600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:113402000-113402600	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr2:113402000-113402600	Flanking Active TSS	Fetal Kidney	kidney
31	chr2:113402000-113402600	Enhancers	Spleen	Spleen
32	chr2:113402000-113402800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:113402000-113402800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
34	chr2:113402000-113402800	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr2:113402000-113402800	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr2:113402000-113402800	Flanking Active TSS	Fetal Heart	heart
37	chr2:113402000-113402800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr2:113402000-113402800	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr2:113402000-113402800	Flanking Active TSS	HSMM	muscle
40	chr2:113402000-113403000	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr2:113402000-113403000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr2:113402000-113403000	Flanking Active TSS	NHEK	skin
43	chr2:113402000-113403200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:113402000-113403200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:113402000-113403200	Flanking Active TSS	HUVEC	blood vessel
46	chr2:113402000-113404800	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr2:113402000-113405000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr2:113402000-113405000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:113402200-113402600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
50	chr2:113402200-113402600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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