Variant report

Variant	esv3341099
Chromosome Location	chr2:180128207-180130605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:180129321-180130164	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:180127655-180128278	HepG2	liver:	n/a	n/a
3	BACH1	chr2:180129343-180129796	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:180128833-180129052	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:180128320-180128520	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr2:180129188-180129549	GM12878	blood:	n/a	chr2:180129245-180129261
7	BHLHE40	chr2:180128003-180128702	GM12878	blood:	n/a	n/a
8	BRCA1	chr2:180127895-180128575	Hela-S3	cervix:	n/a	n/a
9	CCNT2	chr2:180128600-180129961	K562	blood:	n/a	chr2:180129649-180129658
10	CEBPB	chr2:180128654-180129060	ECC-1	luminal epithelium:	n/a	chr2:180128847-180128858 chr2:180128845-180128856 chr2:180128845-180128858 chr2:180128847-180128856
11	CEBPB	chr2:180128567-180129029	MCF-7	breast:	n/a	chr2:180128847-180128858 chr2:180128845-180128856 chr2:180128845-180128858 chr2:180128847-180128856
12	CEBPB	chr2:180128539-180128948	MCF-7	breast:	n/a	chr2:180128847-180128858 chr2:180128845-180128856 chr2:180128845-180128858 chr2:180128847-180128856
13	CEBPB	chr2:180127687-180129038	HepG2	liver:	n/a	chr2:180127867-180127880 chr2:180128847-180128858 chr2:180128845-180128856 chr2:180128845-180128858 chr2:180127719-180127731 chr2:180128847-180128856
14	CEBPB	chr2:180128672-180129023	K562	blood:	n/a	chr2:180128847-180128858 chr2:180128845-180128856 chr2:180128845-180128858 chr2:180128847-180128856
15	CEBPB	chr2:180129800-180130282	IMR90	lung:	n/a	chr2:180130075-180130088
16	CEBPB	chr2:180128686-180128999	A549	lung:	n/a	chr2:180128847-180128858 chr2:180128845-180128856 chr2:180128845-180128858 chr2:180128847-180128856
17	CEBPB	chr2:180128660-180129029	IMR90	lung:	n/a	chr2:180128847-180128858 chr2:180128845-180128856 chr2:180128845-180128858 chr2:180128847-180128856
18	CEBPB	chr2:180127691-180128448	IMR90	lung:	n/a	chr2:180127867-180127880 chr2:180127719-180127731
19	CEBPB	chr2:180128685-180129021	H1-hESC	embryonic stem cell:	n/a	chr2:180128847-180128858 chr2:180128845-180128856 chr2:180128845-180128858 chr2:180128847-180128856
20	CEBPB	chr2:180130006-180130186	H1-hESC	embryonic stem cell:	n/a	chr2:180130075-180130088
21	CEBPB	chr2:180129844-180130325	MCF-7	breast:	n/a	chr2:180130075-180130088
22	CEBPB	chr2:180128571-180129132	A549	lung:	n/a	chr2:180128847-180128858 chr2:180128845-180128856 chr2:180128845-180128858 chr2:180128847-180128856
23	CEBPB	chr2:180127607-180129046	Hela-S3	cervix:	n/a	chr2:180127867-180127880 chr2:180128847-180128858 chr2:180128845-180128856 chr2:180128845-180128858 chr2:180127719-180127731 chr2:180128847-180128856
24	CEBPB	chr2:180129830-180130262	HepG2	liver:	n/a	chr2:180130075-180130088
25	CEBPB	chr2:180128677-180130182	HepG2	liver:	n/a	chr2:180130075-180130088 chr2:180128847-180128858 chr2:180128845-180128856 chr2:180128845-180128858 chr2:180128847-180128856
26	CEBPB	chr2:180129888-180130267	K562	blood:	n/a	chr2:180130075-180130088
27	CEBPB	chr2:180129784-180130255	A549	lung:	n/a	chr2:180130075-180130088
28	CEBPB	chr2:180129821-180130269	Hela-S3	cervix:	n/a	chr2:180130075-180130088
29	CEBPB	chr2:180128717-180128925	HepG2	liver:	n/a	chr2:180128847-180128858 chr2:180128845-180128856 chr2:180128845-180128858 chr2:180128847-180128856
30	CEBPD	chr2:180128885-180129849	HepG2	liver:	n/a	n/a
31	CEBPD	chr2:180129316-180129829	HepG2	liver:	n/a	n/a
32	CHD1	chr2:180128038-180128895	GM12878	blood:	n/a	n/a
33	CHD1	chr2:180129177-180129347	GM12878	blood:	n/a	n/a
34	CHD1	chr2:180129672-180129720	GM12878	blood:	n/a	n/a
35	CHD1	chr2:180128338-180128461	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr2:180128201-180128731	HepG2	liver:	n/a	n/a
37	CHD2	chr2:180129169-180129690	GM12878	blood:	n/a	chr2:180129565-180129575 chr2:180129570-180129580
38	CHD2	chr2:180127896-180128671	GM12878	blood:	n/a	n/a
39	CHD2	chr2:180129485-180129833	HepG2	liver:	n/a	chr2:180129565-180129575 chr2:180129570-180129580
40	CHD2	chr2:180129185-180129727	Hela-S3	cervix:	n/a	chr2:180129565-180129575 chr2:180129570-180129580
41	CHD2	chr2:180128171-180128901	Hela-S3	cervix:	n/a	n/a
42	CREB1	chr2:180127690-180130143	HepG2	liver:	n/a	n/a
43	CREB1	chr2:180129120-180129699	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr2:180129053-180129691	A549	lung:	n/a	n/a
45	CTBP2	chr2:180128087-180128885	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr2:180129100-180129250	SAEC	small airway:	n/a	n/a
47	CTCF	chr2:180128500-180128650	GM12872	blood:	n/a	n/a
48	CTCF	chr2:180130466-180130483	K562	blood:	n/a	n/a
49	CTCF	chr2:180128580-180128730	GM12871	blood:	n/a	n/a
50	CTCF	chr2:180128240-180128390	GM12867	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:180128889-180128939	HCM	heart:	n/a
2	chr2:180128907-180128957	NHBE	bronchial:	n/a
3	chr2:180128907-180128957	ovcar-3	ovarian:	n/a
4	chr2:180129612-180129662	SK-N-SH_RA	brain:	n/a
5	chr2:180128490-180128540	HCT-116	colon:	n/a
6	chr2:180128490-180128540	NHDF-neo	bronchial:	n/a
7	chr2:180128490-180128540	AG09319	gingival:	n/a
8	chr2:180129612-180129662	HepG2	liver:	n/a
9	chr2:180128490-180128540	SK-N-SH	brain:	n/a
10	chr2:180128889-180128939	SK-N-MC	brain:	n/a
11	chr2:180128907-180128957	GM06990	blood:	n/a
12	chr2:180128907-180128957	HIPEpiC	eye:	n/a
13	chr2:180128889-180128939	GM12891	blood:	n/a
14	chr2:180129612-180129662	BE2_C	brain:	n/a
15	chr2:180128490-180128540	HNPCEpiC	eye:	n/a
16	chr2:180128889-180128939	HNPCEpiC	eye:	n/a
17	chr2:180128889-180128939	HRE	kidney:	n/a
18	chr2:180128889-180128939	NHDF-neo	bronchial:	n/a
19	chr2:180130081-180130131	Caco-2	colon:	n/a
20	chr2:180130081-180130131	Hepatocyte	liver:	n/a
21	chr2:180128889-180128939	NHBE	bronchial:	n/a
22	chr2:180130081-180130131	HCM	heart:	n/a
23	chr2:180128490-180128540	SK-N-SH_RA	brain:	n/a
24	chr2:180130081-180130131	SAEC	small airway:	n/a
25	chr2:180128490-180128540	HRE	kidney:	n/a
26	chr2:180128907-180128957	Jurkat	blood:	n/a
27	chr2:180128490-180128540	CMK	blood:	n/a
28	chr2:180130081-180130131	HNPCEpiC	eye:	n/a
29	chr2:180128889-180128939	AG04450	lung:	fetal
30	chr2:180128889-180128939	HMEC	breast:	n/a
31	chr2:180128907-180128957	AG04450	lung:	fetal
32	chr2:180129612-180129662	Jurkat	blood:	n/a
33	chr2:180128889-180128939	HEEpiC	esophagus:	n/a
34	chr2:180130081-180130131	GM12891	blood:	n/a
35	chr2:180128490-180128540	HEEpiC	esophagus:	n/a
36	chr2:180128907-180128957	GM12891	blood:	n/a
37	chr2:180128490-180128540	HPAEpiC	pulmonary alveolar:	n/a
38	chr2:180129612-180129662	HEEpiC	esophagus:	n/a
39	chr2:180130081-180130131	HRE	kidney:	n/a
40	chr2:180128490-180128540	LNCaP	prostate:	n/a
41	chr2:180128490-180128540	HRCEpiC	kidney:	n/a
42	chr2:180129612-180129662	NH-A	brain:	n/a
43	chr2:180128490-180128540	ProgFib	skin:	n/a
44	chr2:180128889-180128939	GM12892	blood:	n/a
45	chr2:180129612-180129662	SKMC	muscle:	n/a
46	chr2:180128889-180128939	HCT-116	colon:	n/a
47	chr2:180130081-180130131	AG10803	skin:	n/a
48	chr2:180128889-180128939	NT2-D1	testis:	n/a
49	chr2:180128907-180128957	PrEC	prostate:	n/a
50	chr2:180128889-180128939	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:180127590..180133149-chr2:180134052..180141026,12	MCF-7	breast:
2	chr2:180129872..180132234-chr2:180132866..180134594,2	K562	blood:
3	chr2:179315142..179317025-chr2:180127825..180130038,2	MCF-7	breast:
4	chr13:27745918..27746778-chr2:180129319..180129887,2	HCT-116	colon:
5	chr2:180127231..180129754-chr2:180137790..180140822,6	MCF-7	breast:

Variant related genes	Relation type
SESTD1	TF binding region
SESTD1	CpG island
ENSG00000237477	chromatin interactions
ENSG00000180228	chromatin interactions
ENSG00000152484	chromatin interactions
ENSG00000204311	chromatin interactions
ENSG00000230641	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531451739	chr2:180128217-180128218	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs200975395	chr2:180128243-180128244	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs562232028	chr2:180128270-180128271	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs531312196	chr2:180128285-180128286	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs184717600	chr2:180128317-180128318	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs561965376	chr2:180128336-180128337	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs189533027	chr2:180128340-180128341	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs551140601	chr2:180128341-180128342	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs34095150	chr2:180128365-180128366	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs397868864	chr2:180128366-180128367	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs576261771	chr2:180128371-180128372	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs115519803	chr2:180128419-180128420	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs548062376	chr2:180128430-180128431	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs374575857	chr2:180128433-180128434	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs571085439	chr2:180128458-180128459	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs533357831	chr2:180128464-180128465	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs550240424	chr2:180128546-180128547	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs570124228	chr2:180128568-180128569	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs367866124	chr2:180128569-180128570	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs10204985	chr2:180128579-180128580	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs148231955	chr2:180128598-180128599	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs546934822	chr2:180128636-180128637	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs141254562	chr2:180128659-180128660	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs566823850	chr2:180128687-180128688	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs554015078	chr2:180128720-180128721	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs77100570	chr2:180128734-180128735	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs12105846	chr2:180128777-180128778	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs555741856	chr2:180128778-180128779	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs372186668	chr2:180128788-180128789	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs181057448	chr2:180128813-180128814	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs541539762	chr2:180128896-180128897	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs561480128	chr2:180128900-180128901	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs572577637	chr2:180128922-180128923	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs541309551	chr2:180128931-180128932	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs564792004	chr2:180128944-180128945	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs533467080	chr2:180128969-180128970	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs13391473	chr2:180129033-180129034	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
38	rs563696728	chr2:180129056-180129057	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs529374777	chr2:180129062-180129063	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs549486193	chr2:180129080-180129081	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs150359445	chr2:180129164-180129165	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs12693181	chr2:180129178-180129179	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562779668	chr2:180129207-180129208	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs547280564	chr2:180129278-180129279	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs35040965	chr2:180129289-180129290	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs570675731	chr2:180129322-180129323	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs12693182	chr2:180129366-180129367	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs555703422	chr2:180129388-180129389	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs575615371	chr2:180129444-180129445	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs12693183	chr2:180129445-180129446	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180126400-180128600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:180126400-180130200	Active TSS	Stomach Smooth Muscle	stomach
3	chr2:180127200-180128400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr2:180127200-180129600	Active TSS	HMEC	breast
5	chr2:180127200-180129800	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr2:180127400-180128400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr2:180127400-180128400	Flanking Active TSS	HUVEC	blood vessel
8	chr2:180127400-180128600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:180127400-180128600	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr2:180127400-180128600	Flanking Active TSS	Osteobl	bone
11	chr2:180127600-180128400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:180127600-180128400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr2:180127600-180128400	Flanking Active TSS	A549	lung
14	chr2:180127600-180128600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr2:180127600-180128600	Active TSS	Right Atrium	heart
16	chr2:180127600-180128800	Flanking Active TSS	Dnd41	blood
17	chr2:180127600-180129600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:180127600-180129800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:180127600-180129800	Active TSS	Aorta	Aorta
20	chr2:180127600-180129800	Active TSS	Duodenum Mucosa	Duodenum
21	chr2:180127600-180130000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:180127800-180128400	Flanking Active TSS	Fetal Lung	lung
23	chr2:180127800-180128400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:180127800-180128400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr2:180127800-180128400	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr2:180127800-180128400	Flanking Active TSS	NH-A	brain
27	chr2:180127800-180128600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:180127800-180128800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr2:180127800-180128800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr2:180127800-180129000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:180127800-180129600	Active TSS	Fetal Stomach	stomach
32	chr2:180127800-180129800	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr2:180127800-180129800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:180127800-180129800	Active TSS	Brain Angular Gyrus	brain
35	chr2:180127800-180129800	Active TSS	Brain Hippocampus Middle	brain
36	chr2:180127800-180129800	Active TSS	HSMMtube	muscle
37	chr2:180127800-180129800	Active TSS	NHLF	lung
38	chr2:180127800-180130000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:180127800-180130000	Active TSS	Fetal Kidney	kidney
40	chr2:180127800-180130000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr2:180127800-180130200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:180128000-180128400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr2:180128000-180128400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
44	chr2:180128000-180128400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
45	chr2:180128000-180128400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr2:180128000-180128600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:180128000-180128600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr2:180128000-180128600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:180128000-180128600	Active TSS	Brain Germinal Matrix	brain
50	chr2:180128000-180128600	Flanking Active TSS	Fetal Intestine Small	intestine

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