Variant report

Variant	nsv981902
Chromosome Location	chr8:6755690-6758369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:6758217-6758967	HepG2	liver:	n/a	n/a
2	CTCF	chr8:6756521-6757044	K562	blood:	n/a	n/a
3	CTCF	chr8:6756720-6756870	BE2_C	brain:	n/a	n/a
4	CTCF	chr8:6756620-6756919	K562	blood:	n/a	n/a
5	CTCF	chr8:6756600-6756851	K562	blood:	n/a	n/a
6	CTCF	chr8:6756700-6756850	K562	blood:	n/a	n/a
7	CTCF	chr8:6756760-6756910	HCT-116	colon:	n/a	n/a
8	CTCF	chr8:6756640-6756790	K562	blood:	n/a	n/a
9	CTCF	chr8:6756635-6756786	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr8:6756644-6756884	K562	blood:	n/a	n/a
11	CTCF	chr8:6756612-6756966	K562	blood:	n/a	n/a
12	CTCF	chr8:6756700-6756850	HEK293	kidney:	n/a	n/a
13	ELF1	chr8:6756785-6757028	K562	blood:	n/a	n/a
14	EP300	chr8:6758353-6759020	HepG2	liver:	n/a	n/a
15	FOS	chr8:6758066-6758984	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr8:6758258-6758969	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr8:6758024-6758133	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr8:6758272-6759007	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr8:6758334-6759038	MCF10A-Er-Src	breast:	n/a	n/a
20	FOXA1	chr8:6758355-6758911	HepG2	liver:	n/a	n/a
21	FOXA1	chr8:6758367-6758954	HepG2	liver:	n/a	n/a
22	JUND	chr8:6758365-6758851	HepG2	liver:	n/a	n/a
23	JUND	chr8:6756697-6756924	K562	blood:	n/a	n/a
24	MAZ	chr8:6756569-6756969	K562	blood:	n/a	n/a
25	MYC	chr8:6758327-6758973	MCF10A-Er-Src	breast:	n/a	chr8:6758814-6758823
26	MYC	chr8:6756760-6756915	K562	blood:	n/a	n/a
27	POLR2A	chr8:6758071-6759062	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr8:6758070-6758253	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr8:6758299-6759006	MCF10A-Er-Src	breast:	n/a	chr8:6758793-6758804
30	STAT3	chr8:6758348-6759231	MCF10A-Er-Src	breast:	n/a	chr8:6758793-6758804
31	TEAD4	chr8:6758330-6758857	HepG2	liver:	n/a	n/a
32	YY1	chr8:6756826-6757035	K562	blood:	n/a	n/a
33	YY1	chr8:6756634-6756824	K562	blood:	n/a	n/a
34	YY1	chr8:6756675-6757033	K562	blood:	n/a	n/a
35	ZC3H11A	chr8:6756890-6757034	K562	blood:	n/a	n/a
36	ZNF143	chr8:6756776-6756857	H1-hESC	embryonic stem cell:	n/a	n/a
37	ZNF143	chr8:6756780-6756815	K562	blood:	n/a	n/a
38	ZNF384	chr8:6756671-6757121	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:6756832-6756882	HEK293	kidney:	embryo
2	chr8:6756796-6756846	PANC-1	pancreas:	n/a
3	chr8:6756730-6756780	MCF-7	breast:	n/a
4	chr8:6756832-6756882	PANC-1	pancreas:	n/a
5	chr8:6756796-6756846	HIPEpiC	eye:	n/a
6	chr8:6756796-6756846	SK-N-MC	brain:	n/a
7	chr8:6756730-6756780	U87	brain:	n/a
8	chr8:6756730-6756780	AoSMC	blood vessel:	n/a
9	chr8:6756832-6756882	NT2-D1	testis:	n/a
10	chr8:6756832-6756882	HUVEC	blood vessel:	n/a
11	chr8:6756730-6756780	Hepatocyte	liver:	n/a
12	chr8:6756832-6756882	CMK	blood:	n/a
13	chr8:6756832-6756882	GM12891	blood:	n/a
14	chr8:6756796-6756846	NHBE	bronchial:	n/a
15	chr8:6756832-6756882	SK-N-SH	brain:	n/a
16	chr8:6756832-6756882	NHDF-neo	bronchial:	n/a
17	chr8:6756730-6756780	NHBE	bronchial:	n/a
18	chr8:6756796-6756846	LNCaP	prostate:	n/a
19	chr8:6756796-6756846	AG04449	skin:	fetal
20	chr8:6756796-6756846	NHDF-neo	bronchial:	n/a
21	chr8:6756832-6756882	SK-N-MC	brain:	n/a
22	chr8:6756796-6756846	H1-hESC	embryonic stem cell:	embryo
23	chr8:6756796-6756846	NH-A	brain:	n/a
24	chr8:6756796-6756846	PrEC	prostate:	n/a
25	chr8:6756796-6756846	IMR90	lung:	fetal
26	chr8:6756730-6756780	HRCEpiC	kidney:	n/a
27	chr8:6756796-6756846	HMEC	breast:	n/a
28	chr8:6756796-6756846	HepG2	liver:	n/a
29	chr8:6756730-6756780	H1-hESC	embryonic stem cell:	embryo
30	chr8:6756832-6756882	MCF10A-Er-Src	breast:	n/a
31	chr8:6756796-6756846	GM12892	blood:	n/a
32	chr8:6756730-6756780	HRPEpiC	eye:	n/a
33	chr8:6756730-6756780	MCF10A-Er-Src	breast:	n/a
34	chr8:6756730-6756780	AG04449	skin:	fetal
35	chr8:6756832-6756882	RPTEC	kidney:	n/a
36	chr8:6756730-6756780	SKMC	muscle:	n/a
37	chr8:6756832-6756882	IMR90	lung:	fetal
38	chr8:6756832-6756882	NB4	blood:	n/a
39	chr8:6756832-6756882	HMEC	breast:	n/a
40	chr8:6756832-6756882	Jurkat	blood:	n/a
41	chr8:6756730-6756780	AG09319	gingival:	n/a
42	chr8:6756796-6756846	AG04450	lung:	fetal
43	chr8:6756730-6756780	PrEC	prostate:	n/a
44	chr8:6756832-6756882	AG04450	lung:	fetal
45	chr8:6756832-6756882	HNPCEpiC	eye:	n/a
46	chr8:6756730-6756780	PANC-1	pancreas:	n/a
47	chr8:6756832-6756882	MCF-7	breast:	n/a
48	chr8:6756832-6756882	HCT-116	colon:	n/a
49	chr8:6756832-6756882	HRE	kidney:	n/a
50	chr8:6756796-6756846	HNPCEpiC	eye:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6751586..6753338-chr8:6758046..6759646,2	K562	blood:
2	chr8:6754502..6756661-chr8:6759647..6761646,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250752	TF binding region
ENSG00000250752	CpG island

Extended variants
information (count: 219 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73519712	chr8:6755693-6755694	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569442715	chr8:6755699-6755700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535165140	chr8:6755732-6755733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554982223	chr8:6755737-6755738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571702060	chr8:6755761-6755762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2738145	chr8:6755762-6755763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs75840679	chr8:6755763-6755764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368883599	chr8:6755814-6755815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2741056	chr8:6755820-6755821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs185000351	chr8:6755831-6755832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117346199	chr8:6755840-6755841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543141306	chr8:6755896-6755897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563203752	chr8:6755919-6755920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528497124	chr8:6755921-6755922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560058906	chr8:6755945-6755946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2978963	chr8:6755957-6755958	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146559631	chr8:6755963-6755964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200784544	chr8:6756016-6756017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10548608	chr8:6756024-6756025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112588880	chr8:6756025-6756026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76476399	chr8:6756027-6756028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567512698	chr8:6756032-6756033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13271126	chr8:6756035-6756036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113017763	chr8:6756040-6756041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13281734	chr8:6756042-6756043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190235581	chr8:6756046-6756047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13273258	chr8:6756048-6756049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13274325	chr8:6756055-6756056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13271147	chr8:6756057-6756058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13281753	chr8:6756064-6756065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13273280	chr8:6756068-6756069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546584599	chr8:6756080-6756081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2981406	chr8:6756093-6756094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs13281998	chr8:6756106-6756107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150577946	chr8:6756107-6756108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9693801	chr8:6756112-6756113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372357803	chr8:6756113-6756114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199917660	chr8:6756114-6756115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111365781	chr8:6756116-6756117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562824716	chr8:6756123-6756124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373576674	chr8:6756138-6756139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577895525	chr8:6756144-6756145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565840996	chr8:6756150-6756151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528349247	chr8:6756153-6756154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543337332	chr8:6756167-6756168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557232853	chr8:6756169-6756170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376762897	chr8:6756175-6756176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71517608	chr8:6756183-6756184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs28437170	chr8:6756184-6756185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113653932	chr8:6756185-6756186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:135)

Disease	PMID	Source
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6753000-6757400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:6753200-6760000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:6753200-6760000	Weak transcription	Esophagus	oesophagus
4	chr8:6753400-6757800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:6753400-6757800	Weak transcription	HMEC	breast
6	chr8:6753400-6758000	Weak transcription	NHEK	skin
7	chr8:6753600-6758000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:6754000-6755800	Enhancers	Dnd41	blood
9	chr8:6754200-6757200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:6755200-6756600	Enhancers	Pancreas	Pancrea
11	chr8:6756400-6756600	Enhancers	K562	blood
12	chr8:6756600-6757400	Weak transcription	Pancreas	Pancrea
13	chr8:6756600-6757400	Active TSS	K562	blood
14	chr8:6757200-6760600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:6757400-6757800	Enhancers	Pancreas	Pancrea
16	chr8:6757400-6761600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:6757800-6758200	Enhancers	HMEC	breast
18	chr8:6757800-6759400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:6757800-6760000	Weak transcription	Pancreas	Pancrea
20	chr8:6758000-6759400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:6758000-6760600	Enhancers	NHEK	skin
22	chr8:6758000-6761200	Enhancers	HepG2	liver
23	chr8:6758200-6758600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:6758200-6758600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:6758200-6758600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:6758200-6758800	Flanking Active TSS	HMEC	breast

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