Variant report

Variant	nsv610161
Chromosome Location	chr8:8286804-8290054
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	chr8:8286275-8287368	HepG2	liver:	n/a	n/a
2	ATF3	chr8:8286690-8287352	A549	lung:	n/a	n/a
3	ATF3	chr8:8286695-8287347	A549	lung:	n/a	n/a
4	BCL3	chr8:8286570-8287287	A549	lung:	n/a	n/a
5	BCL3	chr8:8286658-8287363	A549	lung:	n/a	n/a
6	BHLHE40	chr8:8286354-8287280	HepG2	liver:	n/a	n/a
7	CEBPB	chr8:8286731-8287340	A549	lung:	n/a	n/a
8	CEBPB	chr8:8286926-8287259	A549	lung:	n/a	n/a
9	CEBPB	chr8:8286999-8287221	HepG2	liver:	n/a	n/a
10	CEBPB	chr8:8286874-8287324	HepG2	liver:	n/a	n/a
11	CEBPB	chr8:8286904-8287289	IMR90	lung:	n/a	n/a
12	CEBPB	chr8:8286862-8287314	HepG2	liver:	n/a	n/a
13	CEBPB	chr8:8286803-8287335	HepG2	liver:	n/a	n/a
14	CEBPB	chr8:8288159-8288360	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr8:8286630-8287443	A549	lung:	n/a	n/a
16	CEBPD	chr8:8286964-8287209	HepG2	liver:	n/a	n/a
17	CEBPD	chr8:8286992-8287221	HepG2	liver:	n/a	n/a
18	CHD2	chr8:8286860-8287226	HepG2	liver:	n/a	n/a
19	CREB1	chr8:8286512-8287343	HepG2	liver:	n/a	n/a
20	EP300	chr8:8286555-8287423	HepG2	liver:	n/a	n/a
21	EP300	chr8:8286602-8287311	HepG2	liver:	n/a	n/a
22	EP300	chr8:8286653-8287334	HepG2	liver:	n/a	n/a
23	EP300	chr8:8286645-8287222	SK-N-SH	brain:	n/a	n/a
24	EP300	chr8:8286615-8287455	A549	lung:	n/a	n/a
25	EP300	chr8:8286441-8287496	A549	lung:	n/a	n/a
26	ETS1	chr8:8286710-8287193	A549	lung:	n/a	n/a
27	FOS	chr8:8286921-8287213	HUVEC	blood vessel:	n/a	chr8:8287087-8287095 chr8:8287085-8287096 chr8:8287085-8287097
28	FOSL2	chr8:8286580-8287459	A549	lung:	n/a	chr8:8287087-8287095 chr8:8287085-8287097
29	FOSL2	chr8:8286662-8287384	HepG2	liver:	n/a	chr8:8287087-8287095 chr8:8287085-8287097
30	FOSL2	chr8:8286696-8287342	HepG2	liver:	n/a	chr8:8287087-8287095 chr8:8287085-8287097
31	FOSL2	chr8:8286688-8287287	A549	lung:	n/a	chr8:8287087-8287095 chr8:8287085-8287097
32	FOXA1	chr8:8286707-8287460	HepG2	liver:	n/a	chr8:8286946-8286958
33	FOXA1	chr8:8286748-8287382	HepG2	liver:	n/a	chr8:8286946-8286958
34	FOXA1	chr8:8286603-8287363	HepG2	liver:	n/a	chr8:8286946-8286958
35	FOXA1	chr8:8286606-8287454	HepG2	liver:	n/a	chr8:8286946-8286958
36	FOXA2	chr8:8286086-8287644	HepG2	liver:	n/a	chr8:8286946-8286958
37	FOXA2	chr8:8286725-8287299	HepG2	liver:	n/a	chr8:8286946-8286958
38	FOXA2	chr8:8286822-8287473	A549	lung:	n/a	chr8:8286946-8286958
39	FOXA2	chr8:8286683-8287418	A549	lung:	n/a	chr8:8286946-8286958
40	GABPA	chr8:8286587-8287301	A549	lung:	n/a	n/a
41	GABPA	chr8:8286610-8287280	A549	lung:	n/a	n/a
42	GATA3	chr8:8289599-8290215	MCF-7	breast:	n/a	chr8:8289684-8289692 chr8:8289681-8289694
43	GATA3	chr8:8286456-8287492	A549	lung:	n/a	chr8:8287088-8287097
44	GATA3	chr8:8286698-8287349	MCF-7	breast:	n/a	chr8:8287088-8287097
45	GATA3	chr8:8286417-8287313	SK-N-SH	brain:	n/a	chr8:8286437-8286453 chr8:8287088-8287097
46	GATA3	chr8:8286536-8287367	SK-N-SH	brain:	n/a	chr8:8287088-8287097
47	GATA3	chr8:8286443-8287407	A549	lung:	n/a	chr8:8287088-8287097
48	GATA3	chr8:8289719-8290406	MCF-7	breast:	n/a	n/a
49	GATA3	chr8:8289386-8289833	MCF-7	breast:	n/a	chr8:8289684-8289692 chr8:8289681-8289694
50	HDAC2	chr8:8286751-8287343	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:8285563..8288242-chr8:8289388..8292203,2	K562	blood:
2	chr8:8285563..8288242-chr8:8289388..8292203,2	K562	blood:
3	chr8:8239788..8242444-chr8:8287010..8288532,2	MCF-7	breast:
4	chr8:8286859..8289510-chr8:8290140..8291896,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253505	TF binding region

Extended variants
information (count: 216 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:216 , 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	rs2976936	chr8:8286804-8286805	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs186865738	chr8:8286811-8286812	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs533098585	chr8:8286844-8286845	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs139826163	chr8:8286876-8286877	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs73664609	chr8:8286916-8286917	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535462650	chr8:8286933-8286934	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs556059640	chr8:8286979-8286980	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs567439511	chr8:8286996-8286997	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs540635698	chr8:8287004-8287005	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs144682285	chr8:8287034-8287035	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs190460424	chr8:8287048-8287049	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs10110708	chr8:8287056-8287057	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs148495230	chr8:8287068-8287069	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs2976935	chr8:8287096-8287097	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs149137258	chr8:8287108-8287109	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs375198757	chr8:8287109-8287110	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs112057055	chr8:8287122-8287123	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs111472244	chr8:8287136-8287137	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs573951437	chr8:8287137-8287138	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs201885033	chr8:8287138-8287139	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs73496865	chr8:8287139-8287140	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs79689755	chr8:8287141-8287142	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs527611071	chr8:8287142-8287143	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs75511611	chr8:8287143-8287144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564349003	chr8:8287165-8287166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532983041	chr8:8287174-8287175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546078079	chr8:8287193-8287194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10101904	chr8:8287217-8287218	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs145307867	chr8:8287223-8287224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75918049	chr8:8287229-8287230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10110942	chr8:8287281-8287282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566372831	chr8:8287287-8287288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535381090	chr8:8287288-8287289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558177299	chr8:8287307-8287308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140590009	chr8:8287347-8287348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572604256	chr8:8287348-8287349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2921093	chr8:8287383-8287384	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557393350	chr8:8287391-8287392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573832521	chr8:8287397-8287398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12676822	chr8:8287398-8287399	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566473109	chr8:8287450-8287451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552998677	chr8:8287462-8287463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572002653	chr8:8287478-8287479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376354944	chr8:8287495-8287496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540877201	chr8:8287514-8287515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553838496	chr8:8287515-8287516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62498669	chr8:8287526-8287527	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs149892584	chr8:8287542-8287543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113697756	chr8:8287589-8287590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544628199	chr8:8287636-8287637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
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
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
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	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
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8273200-8289400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:8284000-8287600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:8284200-8287000	Enhancers	Fetal Kidney	kidney
4	chr8:8284600-8287400	Enhancers	Stomach Mucosa	stomach
5	chr8:8285000-8287200	Enhancers	Fetal Lung	lung
6	chr8:8285800-8287000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:8285800-8287200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:8286000-8287400	Enhancers	NH-A	brain
9	chr8:8286000-8287600	Enhancers	HepG2	liver
10	chr8:8286200-8287200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:8286200-8287200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:8286200-8287400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr8:8286200-8287400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:8286200-8287400	Enhancers	HSMM	muscle
15	chr8:8286200-8287400	Enhancers	Osteobl	bone
16	chr8:8286200-8292600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:8286400-8287000	Weak transcription	Fetal Intestine Small	intestine
18	chr8:8286400-8287400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:8286400-8287400	Enhancers	HSMMtube	muscle
20	chr8:8286400-8287400	Enhancers	NHDF-Ad	bronchial
21	chr8:8286600-8287000	Flanking Active TSS	A549	lung
22	chr8:8286600-8287400	Enhancers	NHLF	lung
23	chr8:8286800-8287200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:8286800-8287400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr8:8287000-8287200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:8287000-8287200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr8:8287000-8287200	Enhancers	Fetal Intestine Small	intestine
28	chr8:8287000-8287400	Enhancers	A549	lung
29	chr8:8287000-8288000	Enhancers	Placenta	Placenta
30	chr8:8287200-8287600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:8287200-8287600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:8287200-8287800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:8287400-8288800	Weak transcription	HSMMtube	muscle
34	chr8:8287400-8289600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:8287600-8289600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:8287800-8288400	Enhancers	Fetal Muscle Leg	muscle
37	chr8:8288000-8289400	Weak transcription	Placenta	Placenta
38	chr8:8288400-8289600	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:8288800-8290800	Enhancers	HSMMtube	muscle
40	chr8:8289400-8290400	Enhancers	Placenta	Placenta
41	chr8:8289400-8290600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:8289400-8290800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:8289600-8289800	Enhancers	Fetal Muscle Leg	muscle
44	chr8:8289600-8290000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr8:8289600-8290000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr8:8289600-8290600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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