Variant report

Variant	nsv1000167
Chromosome Location	chr4:3913883-4030450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1992)
CpG islands
(count:857)
Chromatin interactive
region (count:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1992 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:3956305-3956527	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:3956277-3956631	K562	blood:	n/a	n/a
3	ATF1	chr4:3957144-3957802	K562	blood:	n/a	n/a
4	ATF1	chr4:3956318-3956561	K562	blood:	n/a	n/a
5	ATF1	chr4:4028563-4028766	K562	blood:	n/a	n/a
6	ATF1	chr4:3939560-3939786	K562	blood:	n/a	n/a
7	ATF2	chr4:4008103-4008392	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr4:4008126-4008444	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr4:4008194-4008377	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr4:4028561-4028781	K562	blood:	n/a	n/a
11	ATF3	chr4:3956235-3956568	K562	blood:	n/a	n/a
12	BATF	chr4:4010229-4010487	GM12878	blood:	n/a	n/a
13	BATF	chr4:4029216-4029487	GM12878	blood:	n/a	n/a
14	BATF	chr4:3951669-3951946	GM12878	blood:	n/a	n/a
15	BATF	chr4:3944161-3944477	GM12878	blood:	n/a	n/a
16	BATF	chr4:4010220-4010483	GM12878	blood:	n/a	n/a
17	BATF	chr4:3955991-3956766	GM12878	blood:	n/a	chr4:3956402-3956413 chr4:3956403-3956413
18	BATF	chr4:3956920-3957168	GM12878	blood:	n/a	n/a
19	BATF	chr4:3941568-3941786	GM12878	blood:	n/a	n/a
20	BATF	chr4:3986555-3986823	GM12878	blood:	n/a	n/a
21	BATF	chr4:3986537-3986888	GM12878	blood:	n/a	n/a
22	BATF	chr4:3956028-3956299	GM12878	blood:	n/a	n/a
23	BATF	chr4:4027325-4027653	GM12878	blood:	n/a	chr4:4027432-4027440
24	BATF	chr4:3939526-3939933	GM12878	blood:	n/a	n/a
25	BATF	chr4:3939612-3939927	GM12878	blood:	n/a	n/a
26	BCL11A	chr4:3956884-3957181	GM12878	blood:	n/a	n/a
27	BCL11A	chr4:3986488-3986892	GM12878	blood:	n/a	n/a
28	BCL11A	chr4:4027282-4027694	GM12878	blood:	n/a	chr4:4027517-4027526
29	BCL11A	chr4:3951507-3951709	GM12878	blood:	n/a	n/a
30	BCL11A	chr4:3955998-3956176	GM12878	blood:	n/a	n/a
31	BCL11A	chr4:3939576-3939881	GM12878	blood:	n/a	n/a
32	BCL11A	chr4:4010216-4010510	GM12878	blood:	n/a	n/a
33	BCL11A	chr4:3955287-3955742	GM12878	blood:	n/a	n/a
34	BCL11A	chr4:3944113-3944431	GM12878	blood:	n/a	n/a
35	BCL11A	chr4:3955392-3955609	GM12878	blood:	n/a	n/a
36	BCL11A	chr4:3956280-3957206	GM12878	blood:	n/a	chr4:3956853-3956866 chr4:3956401-3956410
37	BCL11A	chr4:3956023-3956272	GM12878	blood:	n/a	n/a
38	BCL11A	chr4:3956304-3956707	GM12878	blood:	n/a	chr4:3956401-3956410
39	BCL11A	chr4:3958038-3958427	GM12878	blood:	n/a	n/a
40	BCL11A	chr4:3939555-3939890	GM12878	blood:	n/a	n/a
41	BCL11A	chr4:3986608-3986813	GM12878	blood:	n/a	n/a
42	BHLHE40	chr4:3956379-3956630	HepG2	liver:	n/a	n/a
43	BHLHE40	chr4:3956985-3956993	K562	blood:	n/a	n/a
44	BHLHE40	chr4:3937661-3937846	K562	blood:	n/a	n/a
45	BHLHE40	chr4:3956449-3956467	GM12878	blood:	n/a	n/a
46	BHLHE40	chr4:3956500-3956680	K562	blood:	n/a	n/a
47	BHLHE40	chr4:3944248-3944417	GM12878	blood:	n/a	n/a
48	BHLHE40	chr4:3957474-3957790	HepG2	liver:	n/a	n/a
49	BHLHE40	chr4:3956851-3957841	GM12878	blood:	n/a	n/a
50	BHLHE40	chr4:3956981-3957101	HepG2	liver:	n/a	n/a

(count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3957665-3957715	HEEpiC	esophagus:	n/a
2	chr4:3960332-3960382	SKMC	muscle:	n/a
3	chr4:3956448-3956498	BE2_C	brain:	n/a
4	chr4:3957665-3957715	HEEpiC	esophagus:	n/a
5	chr4:3960332-3960382	SKMC	muscle:	n/a
6	chr4:3956448-3956498	BE2_C	brain:	n/a
7	chr4:3953675-3953725	SK-N-SH	brain:	n/a
8	chr4:3957584-3957634	HUVEC	blood vessel:	n/a
9	chr4:3957672-3957722	IMR90	lung:	fetal
10	chr4:3953675-3953725	T-47D	breast:	n/a
11	chr4:3957672-3957722	HepG2	liver:	n/a
12	chr4:3960266-3960316	GM12892	blood:	n/a
13	chr4:3956963-3957013	NB4	blood:	n/a
14	chr4:3957665-3957715	MCF-7	breast:	n/a
15	chr4:3957665-3957715	NHBE	bronchial:	n/a
16	chr4:3948537-3948587	HAEpiC	amniotic membrane:	n/a
17	chr4:3957584-3957634	AG09319	gingival:	n/a
18	chr4:3960266-3960316	HUVEC	blood vessel:	n/a
19	chr4:3948578-3948628	RPTEC	kidney:	n/a
20	chr4:3957672-3957722	HRCEpiC	kidney:	n/a
21	chr4:4022850-4022900	HAEpiC	amniotic membrane:	n/a
22	chr4:4022850-4022900	SK-N-SH	brain:	n/a
23	chr4:3948578-3948628	HRPEpiC	eye:	n/a
24	chr4:3948537-3948587	BJ	skin:	n/a
25	chr4:3948537-3948587	SK-N-SH	brain:	n/a
26	chr4:3960266-3960316	SK-N-SH_RA	brain:	n/a
27	chr4:4022850-4022900	HepG2	liver:	n/a
28	chr4:3960332-3960382	HMEC	breast:	n/a
29	chr4:3960332-3960382	HCPEpiC	choroid plexus:	n/a
30	chr4:3958437-3958487	H1-hESC	embryonic stem cell:	embryo
31	chr4:4022850-4022900	AoSMC	blood vessel:	n/a
32	chr4:3957665-3957715	NB4	blood:	n/a
33	chr4:3957584-3957634	U87	brain:	n/a
34	chr4:3960266-3960316	PFSK-1	brain:	n/a
35	chr4:3960332-3960382	HRCEpiC	kidney:	n/a
36	chr4:3960266-3960316	PrEC	prostate:	n/a
37	chr4:3953675-3953725	HepG2	liver:	n/a
38	chr4:3948578-3948628	GM06990	blood:	n/a
39	chr4:3957665-3957715	SK-N-MC	brain:	n/a
40	chr4:3960266-3960316	SAEC	small airway:	n/a
41	chr4:4022850-4022900	HL-60	blood:	n/a
42	chr4:3956448-3956498	PANC-1	pancreas:	n/a
43	chr4:3948578-3948628	A549	lung:	n/a
44	chr4:3957665-3957715	SK-N-SH_RA	brain:	n/a
45	chr4:3956448-3956498	T-47D	breast:	n/a
46	chr4:3948578-3948628	MCF-7	breast:	n/a
47	chr4:3956963-3957013	PrEC	prostate:	n/a
48	chr4:3948537-3948587	HEEpiC	esophagus:	n/a
49	chr4:3949662-3949712	AG04450	lung:	fetal
50	chr4:3958437-3958487	MCF-7	breast:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3481517..3483185-chr4:3946552..3949445,2	MCF-7	breast:
2	chr16:88717065..88717765-chr4:3956553..3957490,2	HCT-116	colon:
3	chr11:67572608..67573347-chr4:3956745..3957344,2	Hela-S3	cervix:
4	chr4:3952456..3954287-chr4:3955011..3957167,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOP1-6	chr4:3956687-3956728	NONHSAT094909
2	lnc-OTOP1-6	chr4:3944759-3945099	NONHSAT094909
3	lnc-OTOP1-6	chr4:3952866-3952946	NONHSAT094909
4	lnc-OTOP1-6	chr4:3954838-3954900	NONHSAT094909

No data

Variant related genes	Relation type
ENSG00000253917	TF binding region
FAM86EP	TF binding region
ENPP7P9	TF binding region
ENSG00000271977	TF binding region
ALG1L7P	TF binding region
ENSG00000253917	CpG island
FAM86EP	CpG island
ENPP7P9	CpG island
ENSG00000271977	CpG island
ALG1L7P	CpG island
ENSG00000051523	chromatin interactions
ENSG00000160172	chromatin interactions
ENSG00000253917	chromatin interactions
ENSG00000251669	chromatin interactions

Extended variants
information (count: 5961 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:5961 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56408090	chr4:3913904-3913905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375735349	chr4:3913924-3913925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11937045	chr4:3913930-3913931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149331850	chr4:3913931-3913932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374165557	chr4:3913985-3913986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568967292	chr4:3914012-3914013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185945927	chr4:3914016-3914017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112048877	chr4:3914033-3914034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574375850	chr4:3914037-3914038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572602670	chr4:3914052-3914053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540244305	chr4:3914057-3914058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148290664	chr4:3914077-3914078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190315624	chr4:3914078-3914079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181154351	chr4:3914098-3914099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185411039	chr4:3914118-3914119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141968531	chr4:3914131-3914132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541951053	chr4:3914150-3914151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561870919	chr4:3914165-3914166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568621044	chr4:3914168-3914169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527649575	chr4:3914179-3914180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146319236	chr4:3914204-3914205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190712050	chr4:3914206-3914207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555140832	chr4:3914215-3914216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532481368	chr4:3914227-3914228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57919477	chr4:3914238-3914239	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs543867361	chr4:3914244-3914245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569106739	chr4:3914279-3914280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537917008	chr4:3914308-3914309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554676077	chr4:3914313-3914314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568159244	chr4:3914329-3914330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184200023	chr4:3914349-3914350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs59211093	chr4:3914381-3914382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs371963222	chr4:3914397-3914398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs59408861	chr4:3914406-3914407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs188758769	chr4:3914414-3914415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556319901	chr4:3914433-3914434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558124936	chr4:3914439-3914440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144383159	chr4:3914441-3914442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542035242	chr4:3914453-3914454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192094897	chr4:3914454-3914455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182913862	chr4:3914455-3914456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541060716	chr4:3914474-3914475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57290098	chr4:3914487-3914488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7436034	chr4:3914500-3914501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112879024	chr4:3914533-3914534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147244162	chr4:3914542-3914543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139902471	chr4:3914553-3914554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149841981	chr4:3914582-3914583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531498647	chr4:3914595-3914596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145870528	chr4:3914613-3914614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Ependymoma	20639864	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:846 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3912400-3916200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:3913000-3920600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:3913200-3914200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:3913600-3916200	Weak transcription	NHDF-Ad	bronchial
5	chr4:3913600-3923600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:3913600-3928600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:3913600-3928600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:3914200-3914400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:3914600-3914800	Enhancers	Osteobl	bone
10	chr4:3914800-3916400	Weak transcription	Osteobl	bone
11	chr4:3916000-3916600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:3916000-3916600	Enhancers	Brain Anterior Caudate	brain
13	chr4:3916200-3916600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:3916200-3917000	Enhancers	NHDF-Ad	bronchial
15	chr4:3916400-3916800	Enhancers	Osteobl	bone
16	chr4:3916600-3921200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:3916800-3921000	Weak transcription	Osteobl	bone
18	chr4:3917000-3921200	Weak transcription	NHDF-Ad	bronchial
19	chr4:3919000-3919200	Enhancers	HSMM	muscle
20	chr4:3919200-3919400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:3919200-3921000	Weak transcription	HSMM	muscle
22	chr4:3919400-3919600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr4:3919400-3919600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:3919600-3921200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr4:3919600-3928800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:3920600-3921200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:3921000-3922400	Enhancers	Osteobl	bone
28	chr4:3921000-3922600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:3921000-3922600	Enhancers	HSMM	muscle
30	chr4:3921200-3921400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:3921200-3921400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr4:3921200-3921400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:3921200-3921600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr4:3921200-3921600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr4:3921200-3921600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:3921200-3921600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:3921200-3921600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:3921200-3921600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:3921200-3921600	Enhancers	Fetal Muscle Leg	muscle
40	chr4:3921200-3921600	Enhancers	Ovary	ovary
41	chr4:3921200-3921600	Enhancers	NH-A	brain
42	chr4:3921200-3921600	Enhancers	NHEK	skin
43	chr4:3921200-3921800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:3921200-3922400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:3921200-3922600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:3921200-3922600	Enhancers	Placenta	Placenta
47	chr4:3921200-3922600	Enhancers	NHDF-Ad	bronchial
48	chr4:3921200-3922800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr4:3921400-3921600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:3921600-3923400	Weak transcription	H1 Cell Line	embryonic stem cell

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