Variant report

Variant	nsv1009509
Chromosome Location	chr2:114432965-114557306
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	chr2:114457692-114458213	K562	blood:	n/a	n/a
2	ARID3A	chr2:114535015-114535287	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:114557058-114557174	K562	blood:	n/a	n/a
4	ARID3A	chr2:114552727-114553032	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:114469664-114469667	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:114464702-114465021	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:114513959-114514530	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:114457824-114457937	HepG2	liver:	n/a	n/a
9	ATF1	chr2:114514093-114514765	K562	blood:	n/a	n/a
10	ATF1	chr2:114437071-114437425	K562	blood:	n/a	n/a
11	ATF2	chr2:114457703-114458119	GM12878	blood:	n/a	n/a
12	ATF2	chr2:114457610-114458053	GM12878	blood:	n/a	n/a
13	ATF2	chr2:114456570-114457191	GM12878	blood:	n/a	n/a
14	ATF2	chr2:114514125-114514475	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr2:114450125-114450742	GM12878	blood:	n/a	n/a
16	ATF2	chr2:114514093-114514525	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr2:114549425-114549868	GM12878	blood:	n/a	n/a
18	ATF2	chr2:114513986-114514818	GM12878	blood:	n/a	n/a
19	ATF2	chr2:114451050-114451495	GM12878	blood:	n/a	n/a
20	ATF2	chr2:114450992-114451895	GM12878	blood:	n/a	n/a
21	ATF2	chr2:114514058-114514859	GM12878	blood:	n/a	n/a
22	ATF2	chr2:114450181-114450739	GM12878	blood:	n/a	n/a
23	ATF3	chr2:114514198-114514444	GM12878	blood:	n/a	chr2:114514298-114514313 chr2:114514300-114514311 chr2:114514302-114514309 chr2:114514302-114514312 chr2:114514299-114514312 chr2:114514300-114514313 chr2:114514302-114514312 chr2:114514290-114514310 chr2:114514301-114514309 chr2:114514299-114514310 chr2:114514301-114514321 chr2:114514298-114514309 chr2:114514302-114514310 chr2:114514301-114514312 chr2:114514299-114514312
24	ATF3	chr2:114514146-114514474	K562	blood:	n/a	chr2:114514298-114514313 chr2:114514300-114514311 chr2:114514302-114514309 chr2:114514302-114514312 chr2:114514299-114514312 chr2:114514300-114514313 chr2:114514302-114514312 chr2:114514290-114514310 chr2:114514301-114514309 chr2:114514299-114514310 chr2:114514301-114514321 chr2:114514298-114514309 chr2:114514302-114514310 chr2:114514301-114514312 chr2:114514299-114514312
25	ATF3	chr2:114514027-114514506	HepG2	liver:	n/a	chr2:114514298-114514313 chr2:114514300-114514311 chr2:114514302-114514309 chr2:114514302-114514312 chr2:114514299-114514312 chr2:114514300-114514313 chr2:114514302-114514312 chr2:114514290-114514310 chr2:114514301-114514309 chr2:114514299-114514310 chr2:114514301-114514321 chr2:114514298-114514309 chr2:114514302-114514310 chr2:114514301-114514312 chr2:114514299-114514312
26	ATF3	chr2:114514159-114514472	H1-hESC	embryonic stem cell:	n/a	chr2:114514298-114514313 chr2:114514300-114514311 chr2:114514302-114514309 chr2:114514302-114514312 chr2:114514299-114514312 chr2:114514300-114514313 chr2:114514302-114514312 chr2:114514290-114514310 chr2:114514301-114514309 chr2:114514299-114514310 chr2:114514301-114514321 chr2:114514298-114514309 chr2:114514302-114514310 chr2:114514301-114514312 chr2:114514299-114514312
27	ATF3	chr2:114514043-114514715	A549	lung:	n/a	chr2:114514298-114514313 chr2:114514300-114514311 chr2:114514302-114514309 chr2:114514302-114514312 chr2:114514299-114514312 chr2:114514300-114514313 chr2:114514302-114514312 chr2:114514290-114514310 chr2:114514301-114514309 chr2:114514299-114514310 chr2:114514301-114514321 chr2:114514298-114514309 chr2:114514302-114514310 chr2:114514301-114514312 chr2:114514299-114514312
28	ATF3	chr2:114514180-114514521	GM12878	blood:	n/a	chr2:114514298-114514313 chr2:114514300-114514311 chr2:114514302-114514309 chr2:114514302-114514312 chr2:114514299-114514312 chr2:114514300-114514313 chr2:114514302-114514312 chr2:114514290-114514310 chr2:114514301-114514309 chr2:114514299-114514310 chr2:114514301-114514321 chr2:114514298-114514309 chr2:114514302-114514310 chr2:114514301-114514312 chr2:114514299-114514312
29	ATF3	chr2:114514149-114514470	K562	blood:	n/a	chr2:114514298-114514313 chr2:114514300-114514311 chr2:114514302-114514309 chr2:114514302-114514312 chr2:114514299-114514312 chr2:114514300-114514313 chr2:114514302-114514312 chr2:114514290-114514310 chr2:114514301-114514309 chr2:114514299-114514310 chr2:114514301-114514321 chr2:114514298-114514309 chr2:114514302-114514310 chr2:114514301-114514312 chr2:114514299-114514312
30	ATF3	chr2:114514057-114514593	H1-hESC	embryonic stem cell:	n/a	chr2:114514298-114514313 chr2:114514300-114514311 chr2:114514302-114514309 chr2:114514302-114514312 chr2:114514299-114514312 chr2:114514300-114514313 chr2:114514302-114514312 chr2:114514290-114514310 chr2:114514301-114514309 chr2:114514299-114514310 chr2:114514301-114514321 chr2:114514298-114514309 chr2:114514302-114514310 chr2:114514301-114514312 chr2:114514299-114514312
31	ATF3	chr2:114514156-114514548	K562	blood:	n/a	chr2:114514298-114514313 chr2:114514300-114514311 chr2:114514302-114514309 chr2:114514302-114514312 chr2:114514299-114514312 chr2:114514300-114514313 chr2:114514302-114514312 chr2:114514290-114514310 chr2:114514301-114514309 chr2:114514299-114514310 chr2:114514301-114514321 chr2:114514298-114514309 chr2:114514302-114514310 chr2:114514301-114514312 chr2:114514299-114514312
32	BACH1	chr2:114513667-114514194	H1-hESC	embryonic stem cell:	n/a	n/a
33	BATF	chr2:114549559-114549891	GM12878	blood:	n/a	n/a
34	BATF	chr2:114450302-114450614	GM12878	blood:	n/a	n/a
35	BATF	chr2:114451104-114451470	GM12878	blood:	n/a	n/a
36	BATF	chr2:114549520-114549872	GM12878	blood:	n/a	n/a
37	BATF	chr2:114450245-114450607	GM12878	blood:	n/a	n/a
38	BCL11A	chr2:114450307-114450523	GM12878	blood:	n/a	chr2:114450467-114450476
39	BCL11A	chr2:114549541-114549850	GM12878	blood:	n/a	chr2:114549718-114549727
40	BCL11A	chr2:114451174-114451583	GM12878	blood:	n/a	n/a
41	BCL11A	chr2:114549551-114549786	GM12878	blood:	n/a	chr2:114549718-114549727
42	BCL11A	chr2:114451170-114451502	GM12878	blood:	n/a	n/a
43	BCL11A	chr2:114450249-114450705	GM12878	blood:	n/a	chr2:114450467-114450476
44	BCL3	chr2:114451106-114451503	GM12878	blood:	n/a	n/a
45	BCL3	chr2:114514201-114514885	A549	lung:	n/a	n/a
46	BCLAF1	chr2:114513653-114514964	GM12878	blood:	n/a	chr2:114513799-114513812 chr2:114513811-114513820 chr2:114514199-114514208
47	BCLAF1	chr2:114451062-114451648	GM12878	blood:	n/a	n/a
48	BCLAF1	chr2:114457710-114458179	GM12878	blood:	n/a	n/a
49	BCLAF1	chr2:114450139-114450709	GM12878	blood:	n/a	chr2:114450467-114450476
50	BCLAF1	chr2:114513478-114514838	GM12878	blood:	n/a	chr2:114513799-114513812 chr2:114513811-114513820 chr2:114514199-114514208

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:114509933-114509983	AG09319	gingival:	n/a
2	chr2:114514236-114514286	ECC-1	luminal epithelium:	n/a
3	chr2:114509933-114509983	AG09319	gingival:	n/a
4	chr2:114514236-114514286	ECC-1	luminal epithelium:	n/a
5	chr2:114463932-114463982	AG09309	skin:	n/a
6	chr2:114514736-114514786	NT2-D1	testis:	n/a
7	chr2:114514532-114514582	PrEC	prostate:	n/a
8	chr2:114514620-114514670	NHDF-neo	bronchial:	n/a
9	chr2:114513914-114513964	NHDF-neo	bronchial:	n/a
10	chr2:114514236-114514286	LNCaP	prostate:	n/a
11	chr2:114514230-114514280	HEK293	kidney:	embryo
12	chr2:114514590-114514640	HCF	heart:	n/a
13	chr2:114474155-114474205	AG10803	skin:	n/a
14	chr2:114517017-114517067	HCT-116	colon:	n/a
15	chr2:114514590-114514640	NHBE	bronchial:	n/a
16	chr2:114513466-114513516	MCF-7	breast:	n/a
17	chr2:114517017-114517067	HIPEpiC	eye:	n/a
18	chr2:114514562-114514612	Hela-S3	cervix:	n/a
19	chr2:114514620-114514670	Hepatocyte	liver:	n/a
20	chr2:114514590-114514640	GM12878	blood:	n/a
21	chr2:114514532-114514582	AG04449	skin:	fetal
22	chr2:114514236-114514286	SAEC	small airway:	n/a
23	chr2:114513914-114513964	HepG2	liver:	n/a
24	chr2:114514230-114514280	HRCEpiC	kidney:	n/a
25	chr2:114514736-114514786	BJ	skin:	n/a
26	chr2:114474155-114474205	AG04450	lung:	fetal
27	chr2:114514230-114514280	PANC-1	pancreas:	n/a
28	chr2:114553502-114553552	GM12892	blood:	n/a
29	chr2:114474155-114474205	AG09309	skin:	n/a
30	chr2:114514532-114514582	HIPEpiC	eye:	n/a
31	chr2:114514620-114514670	T-47D	breast:	n/a
32	chr2:114514562-114514612	HUVEC	blood vessel:	n/a
33	chr2:114514412-114514462	AG04450	lung:	fetal
34	chr2:114514590-114514640	LNCaP	prostate:	n/a
35	chr2:114553502-114553552	BE2_C	brain:	n/a
36	chr2:114514620-114514670	HRE	kidney:	n/a
37	chr2:114514562-114514612	HIPEpiC	eye:	n/a
38	chr2:114463932-114463982	Caco-2	colon:	n/a
39	chr2:114514412-114514462	HRPEpiC	eye:	n/a
40	chr2:114514736-114514786	GM19239	blood:	n/a
41	chr2:114514736-114514786	AG09319	gingival:	n/a
42	chr2:114514236-114514286	ovcar-3	ovarian:	n/a
43	chr2:114463932-114463982	SKMC	muscle:	n/a
44	chr2:114517017-114517067	K562	blood:	n/a
45	chr2:114514615-114514665	Hela-S3	cervix:	n/a
46	chr2:114514412-114514462	AG09319	gingival:	n/a
47	chr2:114514590-114514640	HL-60	blood:	n/a
48	chr2:114513914-114513964	Hela-S3	cervix:	n/a
49	chr2:114514236-114514286	HEEpiC	esophagus:	n/a
50	chr2:114513466-114513516	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:114492884..114495202-chr2:114498895..114501885,3	K562	blood:
2	chr1:45196597..45197146-chr2:114513869..114514378,2	HCT-116	colon:
3	chr2:114500995..114503917-chr2:114646360..114648344,2	MCF-7	breast:
4	chr2:114513011..114515179-chr2:114599381..114601639,2	MCF-7	breast:
5	chr2:114513672..114514318-chr9:88356507..88357153,2	Hela-S3	cervix:
6	chr2:114514479..114516685-chr2:114517501..114519701,2	K562	blood:
7	chr2:114519834..114522706-chr2:114524263..114527074,3	K562	blood:
8	chr2:114446767..114449661-chr2:114451262..114453281,2	K562	blood:
9	chr2:114437420..114439660-chr2:114441343..114445054,3	K562	blood:
10	chr2:114555592..114558164-chr2:114562468..114564787,2	MCF-7	breast:
11	chr2:114446767..114449661-chr2:114451262..114453281,2	K562	blood:
12	chr2:114482332..114485532-chr2:114485677..114488517,3	K562	blood:
13	chr2:114482159..114484951-chr2:114491076..114492999,2	MCF-7	breast:
14	chr2:114477814..114479515-chr2:114484887..114487513,2	K562	blood:
15	chr2:114503777..114505419-chr2:114513213..114515405,2	K562	blood:
16	chr2:114512708..114514375-chr2:114682269..114685341,3	MCF-7	breast:
17	chr11:62312627..62313318-chr2:114514037..114514594,2	Hela-S3	cervix:
18	chr2:114532490..114535142-chr2:114535239..114537247,2	MCF-7	breast:
19	chr2:114514046..114514656-chr5:122758831..122759348,2	HCT-116	colon:
20	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
21	chr2:114502561..114504312-chr2:114505354..114506970,2	K562	blood:
22	chr2:114458048..114459604-chr2:114646095..114648927,2	MCF-7	breast:
23	chr2:114506134..114509664-chr2:114511925..114515702,4	MCF-7	breast:
24	chr2:114496602..114499777-chr2:114502091..114505139,3	K562	blood:
25	chr2:114522116..114523853-chr2:114647627..114649620,2	MCF-7	breast:
26	chr2:114512806..114514791-chr2:114533801..114535342,2	MCF-7	breast:
27	chr2:114490228..114492106-chr2:114494949..114498699,3	K562	blood:
28	chr2:114491572..114494215-chr2:114513189..114515373,3	K562	blood:
29	chr2:114513771..114515245-chr2:114647371..114648721,7	MCF-7	breast:
30	chr19:51161342..51161939-chr2:114513674..114514254,2	NB4	blood:
31	chr2:114512090..114514433-chr2:114551367..114553729,2	K562	blood:
32	chr2:114450920..114453589-chr2:114487817..114489810,2	K562	blood:
33	chr2:114361263..114362251-chr2:114457536..114458288,3	MCF-7	breast:
34	chr2:114480320..114482087-chr2:114485684..114488123,2	K562	blood:
35	chr12:44199519..44200501-chr2:114513660..114514189,2	Hela-S3	cervix:
36	chr2:114495189..114499777-chr2:114499993..114505139,6	K562	blood:
37	chr2:114476035..114479420-chr2:114481411..114484659,3	K562	blood:
38	chr2:114480320..114482087-chr2:114485684..114488123,2	K562	blood:
39	chr2:114492770..114494513-chr2:114503014..114505224,2	K562	blood:
40	chr2:114495829..114497859-chr2:114512935..114514766,2	MCF-7	breast:
41	chr2:114519834..114522706-chr2:114524263..114527074,3	K562	blood:
42	chr2:114450920..114453589-chr2:114487817..114489810,2	K562	blood:
43	chr2:114512297..114513973-chr2:114517803..114519961,2	MCF-7	breast:
44	chr2:114512680..114516386-chr2:114646106..114650521,15	K562	blood:
45	chr2:114522159..114524352-chr2:114644924..114646816,2	K562	blood:
46	chr2:114509032..114512220-chr2:114645424..114649150,4	K562	blood:
47	chr2:114502561..114504312-chr2:114505354..114506970,2	K562	blood:
48	chr2:114477814..114479515-chr2:114484887..114487513,2	K562	blood:
49	chr2:114501133..114502988-chr2:114513074..114515544,2	K562	blood:
50	chr2:114485598..114489125-chr2:114489448..114492903,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RABL2A-5	chr2:114457238-114457575	l_1932_chr2:114450946-114476823_testes
2	lnc-RABL2A-5	chr2:114453616-114454175	NONHSAT073828
3	lnc-RABL2A-5	chr2:114481066-114481349	NONHSAT073828
4	lnc-RABL2A-5	chr2:114475938-114476823	l_1932_chr2:114450946-114476823_testes
5	lnc-AC016745.1-2	chr2:114464370-114465202	XLOC_002282
6	lnc-RABL2A-5	chr2:114456711-114456810	l_1932_chr2:114450946-114476823_testes
7	lnc-RABL2A-5	chr2:114456711-114457305	NONHSAT073829
8	lnc-RABL2A-5	chr2:114481066-114481354	l_1932_chr2:114450946-114476823_testes
9	lnc-RABL2A-3	chr2:114432688-114433000	expReg_chr2_8797_+
10	lnc-AC016745.1-2	chr2:114466280-114467816	XLOC_002282
11	lnc-RABL2A-5	chr2:114450947-114454451	l_1932_chr2:114450946-114476823_testes
12	lnc-RABL2A-5	chr2:114453956-114454175	NONHSAT073829

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4782-3p	chr2:114478875-114478896	MIMAT0019945
hsa-miR-4782-5p	chr2:114478915-114478936	MIMAT0019944

No.	miRNA target gene	miRNA name	Chromosome Location
1	SLC35F5	hsa-miR-142-3p	chr2:114474760-114474753
2	SLC35F5	hsa-miR-26b-5p	chr2:114500224-114500244
3	SLC35F5	hsa-miR-142-3p	chr2:114472585-114472607
4	SLC35F5	hsa-miR-142-3p	chr2:114472197-114472219

Variant related genes	Relation type
ENSG00000227359	TF binding region
RNU6-744P	TF binding region
MIR4782	TF binding region
SLC35F5	TF binding region
ENSG00000227359	CpG island
RNU6-744P	CpG island
MIR4782	CpG island
SLC35F5	CpG island
ENSG00000270019	chromatin interactions
ENSG00000168944	chromatin interactions
ENSG00000124942	chromatin interactions
ENSG00000151239	chromatin interactions
ENSG00000202427	chromatin interactions
ENSG00000235034	chromatin interactions
ENSG00000115091	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000228857	chromatin interactions
ENSG00000115084	chromatin interactions
ENSG00000265429	chromatin interactions
ENSG00000135049	chromatin interactions
SNX4	miRNA target sites
TDG	miRNA target sites

Extended variants
information (count: 4540 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:4540 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186650090	chr2:114433009-114433010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7584413	chr2:114433067-114433068	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs79477458	chr2:114433105-114433106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573359531	chr2:114433137-114433138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192063937	chr2:114433230-114433231	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs558406900	chr2:114433264-114433265	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs561938218	chr2:114433370-114433371	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs575568566	chr2:114433401-114433402	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs544483639	chr2:114433453-114433454	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs563758780	chr2:114433487-114433488	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs532904862	chr2:114433617-114433618	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs546384990	chr2:114433642-114433643	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs560144214	chr2:114433649-114433650	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs57523752	chr2:114433665-114433666	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs147012185	chr2:114433715-114433716	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs569054858	chr2:114433737-114433738	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs60821130	chr2:114433748-114433749	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs397965539	chr2:114433749-114433750	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs541372064	chr2:114433796-114433797	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs551668756	chr2:114433817-114433818	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs113663077	chr2:114433953-114433954	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539774053	chr2:114433968-114433969	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111340122	chr2:114434033-114434034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573330197	chr2:114434067-114434068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535564729	chr2:114434091-114434092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555571713	chr2:114434125-114434126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186096936	chr2:114434158-114434159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544518313	chr2:114434164-114434165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78786125	chr2:114434176-114434177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577566393	chr2:114434197-114434198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540269211	chr2:114434211-114434212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559073234	chr2:114434374-114434375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190901689	chr2:114434396-114434397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142188568	chr2:114434409-114434410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376150326	chr2:114434479-114434480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143119154	chr2:114434487-114434488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531494616	chr2:114434504-114434505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551705603	chr2:114434554-114434555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115753406	chr2:114434580-114434581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533838660	chr2:114434596-114434597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547009397	chr2:114434616-114434617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114054408	chr2:114434664-114434665	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs569346973	chr2:114434669-114434670	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs561963871	chr2:114434690-114434691	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs182108417	chr2:114434701-114434702	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs187922814	chr2:114434705-114434706	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs553414336	chr2:114434766-114434767	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs192640659	chr2:114434788-114434789	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs538000579	chr2:114434872-114434873	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs538358952	chr2:114434917-114434918	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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	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
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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2417 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114424800-114433400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:114429400-114434800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:114429800-114433000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:114432200-114433200	Weak transcription	K562	blood
5	chr2:114432800-114433000	Enhancers	Left Ventricle	heart
6	chr2:114432800-114433000	Enhancers	Right Atrium	heart
7	chr2:114432800-114434600	Enhancers	Spleen	Spleen
8	chr2:114433000-114433600	Weak transcription	Left Ventricle	heart
9	chr2:114433000-114434000	Weak transcription	Right Atrium	heart
10	chr2:114433200-114433600	Bivalent Enhancer	HepG2	liver
11	chr2:114433200-114434000	Enhancers	K562	blood
12	chr2:114433200-114434600	Enhancers	Adipose Nuclei	Adipose
13	chr2:114433400-114434200	Enhancers	Fetal Muscle Leg	muscle
14	chr2:114433600-114433800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:114433600-114433800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:114433600-114433800	Flanking Bivalent TSS/Enh	HepG2	liver
17	chr2:114433600-114434600	Enhancers	Left Ventricle	heart
18	chr2:114433800-114434000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr2:114433800-114434000	Bivalent Enhancer	HepG2	liver
20	chr2:114434000-114435200	Weak transcription	K562	blood
21	chr2:114434000-114435600	Enhancers	Fetal Heart	heart
22	chr2:114434000-114435800	Enhancers	Right Atrium	heart
23	chr2:114434200-114435800	Enhancers	Right Ventricle	heart
24	chr2:114434800-114435000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:114435200-114435800	Enhancers	K562	blood
26	chr2:114435200-114436400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:114435800-114437000	Weak transcription	K562	blood
28	chr2:114436400-114437800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:114436800-114437200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr2:114437000-114437600	Enhancers	K562	blood
31	chr2:114437000-114438000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:114437000-114438000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:114437600-114438400	Enhancers	Fetal Lung	lung
34	chr2:114437600-114443000	Weak transcription	K562	blood
35	chr2:114443000-114443400	Enhancers	K562	blood
36	chr2:114443000-114443600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:114443000-114444200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:114443000-114444200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:114444200-114459200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:114446200-114450000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:114448000-114448800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:114448200-114448600	Enhancers	Primary B cells from peripheral blood	blood
43	chr2:114448400-114448600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr2:114448600-114450200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:114448800-114459000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:114449200-114450000	Enhancers	GM12878-XiMat	blood
47	chr2:114449600-114452200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:114449800-114452400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr2:114449800-114452800	Enhancers	Dnd41	blood
50	chr2:114450000-114450400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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