Variant report

Variant	nsv594691
Chromosome Location	chr4:76961802-76972594
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	ATF2	chr4:76963311-76963770	GM12878	blood:	n/a	n/a
2	ATF2	chr4:76963342-76963708	GM12878	blood:	n/a	n/a
3	CHD2	chr4:76961734-76962547	K562	blood:	n/a	n/a
4	FOS	chr4:76963404-76963774	MCF10A-Er-Src	breast:	n/a	chr4:76963583-76963593 chr4:76963582-76963593 chr4:76963582-76963594 chr4:76963583-76963592 chr4:76963584-76963591 chr4:76963583-76963593 chr4:76963584-76963593
5	FOS	chr4:76963419-76963766	MCF10A-Er-Src	breast:	n/a	chr4:76963583-76963593 chr4:76963582-76963593 chr4:76963582-76963594 chr4:76963583-76963592 chr4:76963584-76963591 chr4:76963583-76963593 chr4:76963584-76963593
6	FOS	chr4:76963420-76963759	MCF10A-Er-Src	breast:	n/a	chr4:76963583-76963593 chr4:76963582-76963593 chr4:76963582-76963594 chr4:76963583-76963592 chr4:76963584-76963591 chr4:76963583-76963593 chr4:76963584-76963593
7	FOS	chr4:76963420-76963749	MCF10A-Er-Src	breast:	n/a	chr4:76963583-76963593 chr4:76963582-76963593 chr4:76963582-76963594 chr4:76963583-76963592 chr4:76963584-76963591 chr4:76963583-76963593 chr4:76963584-76963593
8	FOS	chr4:76963405-76963717	HUVEC	blood vessel:	n/a	chr4:76963583-76963593 chr4:76963582-76963593 chr4:76963582-76963594 chr4:76963583-76963592 chr4:76963584-76963591 chr4:76963583-76963593 chr4:76963584-76963593
9	FOSL1	chr4:76970337-76970577	K562	blood:	n/a	n/a
10	FOSL1	chr4:76970289-76970548	H1-hESC	embryonic stem cell:	n/a	n/a
11	FOSL1	chr4:76970234-76970511	H1-hESC	embryonic stem cell:	n/a	n/a
12	FOSL2	chr4:76963392-76963702	SK-N-SH	brain:	n/a	chr4:76963583-76963593 chr4:76963582-76963594 chr4:76963583-76963592 chr4:76963584-76963591 chr4:76963583-76963593 chr4:76963584-76963593
13	GATA3	chr4:76963415-76963776	SK-N-SH	brain:	n/a	chr4:76963585-76963594
14	GATA3	chr4:76972577-76973041	MCF-7	breast:	n/a	n/a
15	HA-E2F1	chr4:76972485-76973049	MCF-7	breast:	n/a	n/a
16	HEY1	chr4:76970305-76971273	K562	blood:	n/a	n/a
17	HEY1	chr4:76969595-76970232	K562	blood:	n/a	n/a
18	HEY1	chr4:76967905-76968134	K562	blood:	n/a	n/a
19	HEY1	chr4:76968856-76969246	K562	blood:	n/a	n/a
20	JUN	chr4:76963405-76963742	HUVEC	blood vessel:	n/a	chr4:76963583-76963593 chr4:76963582-76963594 chr4:76963583-76963592 chr4:76963584-76963591 chr4:76963583-76963593 chr4:76963584-76963593
21	MAX	chr4:76970355-76970649	K562	blood:	n/a	n/a
22	MEF2A	chr4:76963331-76963630	GM12878	blood:	n/a	chr4:76963388-76963403 chr4:76963384-76963395 chr4:76963388-76963403 chr4:76963381-76963402 chr4:76963387-76963403
23	MYC	chr4:76970406-76970610	K562	blood:	n/a	n/a
24	NFIC	chr4:76963333-76963762	GM12878	blood:	n/a	n/a
25	NFYA	chr4:76971365-76971576	K562	blood:	n/a	n/a
26	NFYB	chr4:76963902-76964205	K562	blood:	n/a	n/a
27	NFYB	chr4:76971234-76971748	K562	blood:	n/a	n/a
28	PAX5	chr4:76966276-76966501	GM12878	blood:	n/a	n/a
29	PBX3	chr4:76963381-76963729	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr4:76971328-76971459	K562	blood:	n/a	n/a
31	POLR2A	chr4:76966557-76967633	K562	blood:	n/a	n/a
32	POLR2A	chr4:76967813-76968180	K562	blood:	n/a	n/a
33	POLR2A	chr4:76966487-76967250	K562	blood:	n/a	n/a
34	POLR2A	chr4:76968319-76968737	K562	blood:	n/a	n/a
35	POLR2A	chr4:76962153-76962225	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr4:76967354-76967607	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr4:76970406-76970551	K562	blood:	n/a	n/a
38	POLR2A	chr4:76966707-76966875	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr4:76970337-76971255	K562	blood:	n/a	n/a
40	POLR2A	chr4:76968878-76969255	K562	blood:	n/a	n/a
41	POLR2A	chr4:76964002-76964189	K562	blood:	n/a	n/a
42	POLR2A	chr4:76971287-76971375	K562	blood:	n/a	n/a
43	POLR2A	chr4:76966985-76967155	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr4:76970435-76970697	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr4:76969713-76970031	K562	blood:	n/a	n/a
46	POLR2A	chr4:76970371-76971435	K562	blood:	n/a	n/a
47	POLR2A	chr4:76961498-76963733	K562	blood:	n/a	n/a
48	POLR2A	chr4:76968287-76968698	K562	blood:	n/a	n/a
49	POLR2A	chr4:76964708-76964920	K562	blood:	n/a	n/a
50	POLR2A	chr4:76969284-76969363	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:76971098-76971148	HCM	heart:	n/a
2	chr4:76971098-76971148	T-47D	breast:	n/a
3	chr4:76970912-76970962	T-47D	breast:	n/a
4	chr4:76970912-76970962	AG10803	skin:	n/a
5	chr4:76971098-76971148	ECC-1	luminal epithelium:	n/a
6	chr4:76971098-76971148	HCT-116	colon:	n/a
7	chr4:76971098-76971148	Hepatocyte	liver:	n/a
8	chr4:76971098-76971148	AG04449	skin:	fetal
9	chr4:76971098-76971148	AG09309	skin:	n/a
10	chr4:76971098-76971148	MCF10A-Er-Src	breast:	n/a
11	chr4:76970912-76970962	BJ	skin:	n/a
12	chr4:76970912-76970962	AoSMC	blood vessel:	n/a
13	chr4:76970912-76970962	SKMC	muscle:	n/a
14	chr4:76970912-76970962	GM12891	blood:	n/a
15	chr4:76970912-76970962	MCF-7	breast:	n/a
16	chr4:76970912-76970962	HRPEpiC	eye:	n/a
17	chr4:76971098-76971148	NHDF-neo	bronchial:	n/a
18	chr4:76971098-76971148	HIPEpiC	eye:	n/a
19	chr4:76971098-76971148	GM19239	blood:	n/a
20	chr4:76970912-76970962	HPAEpiC	pulmonary alveolar:	n/a
21	chr4:76970912-76970962	HCF	heart:	n/a
22	chr4:76970912-76970962	AG09309	skin:	n/a
23	chr4:76970912-76970962	LNCaP	prostate:	n/a
24	chr4:76970912-76970962	GM12878	blood:	n/a
25	chr4:76970912-76970962	Caco-2	colon:	n/a
26	chr4:76970912-76970962	PrEC	prostate:	n/a
27	chr4:76970912-76970962	Jurkat	blood:	n/a
28	chr4:76971098-76971148	SK-N-MC	brain:	n/a
29	chr4:76971098-76971148	HL-60	blood:	n/a
30	chr4:76971098-76971148	HEEpiC	esophagus:	n/a
31	chr4:76970912-76970962	NT2-D1	testis:	n/a
32	chr4:76970912-76970962	AG04449	skin:	fetal
33	chr4:76970912-76970962	HL-60	blood:	n/a
34	chr4:76971098-76971148	SAEC	small airway:	n/a
35	chr4:76971098-76971148	CMK	blood:	n/a
36	chr4:76971098-76971148	Caco-2	colon:	n/a
37	chr4:76970912-76970962	HCPEpiC	choroid plexus:	n/a
38	chr4:76971098-76971148	HNPCEpiC	eye:	n/a
39	chr4:76970912-76970962	SK-N-SH	brain:	n/a
40	chr4:76971098-76971148	GM12892	blood:	n/a
41	chr4:76970912-76970962	SK-N-SH_RA	brain:	n/a
42	chr4:76970912-76970962	RPTEC	kidney:	n/a
43	chr4:76971098-76971148	SK-N-SH	brain:	n/a
44	chr4:76971098-76971148	ovcar-3	ovarian:	n/a
45	chr4:76970912-76970962	HIPEpiC	eye:	n/a
46	chr4:76971098-76971148	K562	blood:	n/a
47	chr4:76970912-76970962	HEEpiC	esophagus:	n/a
48	chr4:76971098-76971148	RPTEC	kidney:	n/a
49	chr4:76971098-76971148	NH-A	brain:	n/a
50	chr4:76971098-76971148	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:76965007..76966761-chr4:77015642..77017925,2	K562	blood:
2	chr4:76956748..76960411-chr4:76960413..76963338,4	K562	blood:
3	chr4:76961032..76963158-chr4:77027696..77030643,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM47E-1	chr4:76963127-76963257	l_2670_chr4:76963126-76965818_testes
2	lnc-FAM47E-1	chr4:76965316-76965818	l_2670_chr4:76963126-76965818_testes

Variant related genes	Relation type
ENSG00000225846	TF binding region
CXCL11	TF binding region
ENSG00000225846	CpG island
CXCL11	CpG island
ENSG00000169248	chromatin interactions
ENSG00000156219	chromatin interactions
ENSG00000265931	chromatin interactions
ENSG00000225846	chromatin interactions

Extended variants
information (count: 583 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9999755	chr4:76961802-76961803	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75494991	chr4:76961840-76961841	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
3	rs186925634	chr4:76961848-76961849	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs543657544	chr4:76961913-76961914	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs564367563	chr4:76961938-76961939	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs562364730	chr4:76961957-76961958	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs12509255	chr4:76961994-76961995	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs191761977	chr4:76961996-76961997	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs567397752	chr4:76962054-76962055	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs4241581	chr4:76962055-76962056	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs546658375	chr4:76962061-76962062	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs571229759	chr4:76962067-76962068	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs538207145	chr4:76962097-76962098	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs370743903	chr4:76962145-76962146	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs144370729	chr4:76962155-76962156	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs182701508	chr4:76962163-76962164	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs4637430	chr4:76962223-76962224	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs555539410	chr4:76962302-76962303	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs377667632	chr4:76962376-76962377	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs573838635	chr4:76962455-76962456	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs529103673	chr4:76962472-76962473	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs186974784	chr4:76962475-76962476	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs6835736	chr4:76962494-76962495	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs577987890	chr4:76962550-76962551	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs533690407	chr4:76962565-76962566	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs563634755	chr4:76962579-76962580	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs530693030	chr4:76962588-76962589	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs542888617	chr4:76962591-76962592	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs553572747	chr4:76962592-76962593	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs6532121	chr4:76962606-76962607	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs7699624	chr4:76962631-76962632	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs7683657	chr4:76962643-76962644	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs76333759	chr4:76962774-76962775	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs36013545	chr4:76962775-76962776	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs375997779	chr4:76962880-76962881	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs370848890	chr4:76962884-76962885	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs191519437	chr4:76962938-76962939	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs570377152	chr4:76962960-76962961	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs537340202	chr4:76962990-76962991	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs7684461	chr4:76962996-76962997	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs367998659	chr4:76963105-76963106	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs182217601	chr4:76963129-76963130	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs553179436	chr4:76963133-76963134	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs553447788	chr4:76963157-76963158	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs578022337	chr4:76963186-76963187	Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs7679689	chr4:76963187-76963188	Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs557073971	chr4:76963188-76963189	Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs149152852	chr4:76963191-76963192	Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs143289613	chr4:76963196-76963197	Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs7684879	chr4:76963251-76963252	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76958200-76972600	Weak transcription	Right Atrium	heart
2	chr4:76958400-76963200	Weak transcription	HUVEC	blood vessel
3	chr4:76963200-76963800	Enhancers	HUVEC	blood vessel
4	chr4:76963400-76963800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:76964400-76965000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:76964600-76965000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:76964600-76965400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr4:76965000-76977400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:76969600-76971200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr4:76969800-76970000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:76970000-76971200	Active TSS	K562	blood
12	chr4:76970600-76971000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr4:76971000-76974800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:76971200-76975000	Weak transcription	H1 Cell Line	embryonic stem cell

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