Variant report

Variant	esv19815
Chromosome Location	chr7:5068892-5082948
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	BATF	chr7:5080710-5080920	GM12878	blood:	n/a	n/a
2	CTCF	chr7:5071184-5071239	Spleen_OC	spleen:	n/a	n/a
3	CTCF	chr7:5080745-5080802	Lung_OC	lung:	n/a	n/a
4	CTCF	chr7:5076000-5076087	GM13976	blood:	n/a	n/a
5	CTCF	chr7:5079856-5079889	LNCaP	prostate:	n/a	n/a
6	CTCF	chr7:5072616-5072657	GM13976	blood:	n/a	n/a
7	CTCF	chr7:5069974-5070001	GM13977	blood:	n/a	n/a
8	EBF1	chr7:5080704-5080898	GM12878	blood:	n/a	n/a
9	MYC	chr7:5070345-5070489	GM12878	blood:	n/a	n/a
10	PAX5	chr7:5077711-5077916	GM12878	blood:	n/a	n/a
11	PAX5	chr7:5080675-5080953	GM12878	blood:	n/a	n/a
12	PAX5	chr7:5080686-5081041	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:5071181-5071369	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:5078064-5078189	K562	blood:	n/a	n/a
15	POLR2A	chr7:5079077-5079118	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr7:5070518-5071774	K562	blood:	n/a	n/a
17	POLR2A	chr7:5077635-5077922	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:5074852-5075036	K562	blood:	n/a	n/a
19	POLR2A	chr7:5070877-5071067	HepG2	liver:	n/a	n/a
20	POLR2A	chr7:5072393-5072822	GM12878	blood:	n/a	n/a
21	POU2F2	chr7:5077695-5078046	GM12878	blood:	n/a	n/a
22	POU2F2	chr7:5072450-5072755	GM12878	blood:	n/a	n/a
23	REST	chr7:5071634-5071912	H1-hESC	embryonic stem cell:	n/a	n/a
24	REST	chr7:5071598-5071789	PFSK-1	brain:	n/a	n/a
25	REST	chr7:5071660-5071835	GM12878	blood:	n/a	n/a
26	REST	chr7:5071589-5071807	K562	blood:	n/a	n/a
27	REST	chr7:5071674-5071756	K562	blood:	n/a	n/a
28	REST	chr7:5071598-5071908	H1-hESC	embryonic stem cell:	n/a	n/a
29	SPI1	chr7:5080656-5081032	GM12891	blood:	n/a	chr7:5080847-5080854
30	SPI1	chr7:5080759-5080900	GM12878	blood:	n/a	chr7:5080847-5080854
31	SPI1	chr7:5080640-5081011	GM12878	blood:	n/a	chr7:5080847-5080854
32	SRF	chr7:5080800-5080946	GM12878	blood:	n/a	n/a
33	TCF12	chr7:5080755-5080971	GM12878	blood:	n/a	n/a
34	TCF12	chr7:5080739-5080969	GM12878	blood:	n/a	n/a
35	TCF3	chr7:5080659-5080929	GM12878	blood:	n/a	n/a
36	ZNF263	chr7:5076034-5076450	K562	blood:	n/a	chr7:5076281-5076302
37	ZNF263	chr7:5075943-5076577	HEK293-T-REx	kidney:	n/a	chr7:5076281-5076302 chr7:5076511-5076520

Variant related genes	Relation type
RBAK	TF binding region
RBAK-RBAKDN	TF binding region

Extended variants
information (count: 739 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:739 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539536080	chr7:5068918-5068919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113641495	chr7:5068941-5068942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569518714	chr7:5068974-5068975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144284966	chr7:5068989-5068990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185491661	chr7:5068990-5068991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573923677	chr7:5068993-5068994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6463228	chr7:5069097-5069098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs34593819	chr7:5069188-5069189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4397302	chr7:5069190-5069191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs555179282	chr7:5069223-5069224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189418233	chr7:5069239-5069240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112067823	chr7:5069269-5069270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576680065	chr7:5069298-5069299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180972266	chr7:5069348-5069349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575801355	chr7:5069374-5069375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185841854	chr7:5069433-5069434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139108576	chr7:5069443-5069444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527969343	chr7:5069459-5069460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561447526	chr7:5069511-5069512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190952415	chr7:5069515-5069516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528818223	chr7:5069517-5069518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182033807	chr7:5069571-5069572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565530911	chr7:5069618-5069619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367587076	chr7:5069625-5069626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537857919	chr7:5069638-5069639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142129019	chr7:5069659-5069660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186404379	chr7:5069666-5069667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372081582	chr7:5069683-5069684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551072162	chr7:5069774-5069775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574441618	chr7:5069780-5069781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541714312	chr7:5069809-5069810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536744865	chr7:5069812-5069813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376710908	chr7:5069856-5069857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548792674	chr7:5069868-5069869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139358203	chr7:5069900-5069901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190816903	chr7:5069926-5069927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559951687	chr7:5069927-5069928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144154664	chr7:5069934-5069935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182863912	chr7:5069946-5069947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538992464	chr7:5069973-5069974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571890164	chr7:5070003-5070004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545649406	chr7:5070029-5070030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575838261	chr7:5070041-5070042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34607827	chr7:5070056-5070057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565393208	chr7:5070066-5070067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561549258	chr7:5070080-5070081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187202754	chr7:5070088-5070089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540925153	chr7:5070095-5070096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6957165	chr7:5070104-5070105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs191032030	chr7:5070106-5070107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5038800-5085000	Weak transcription	Spleen	Spleen
2	chr7:5039000-5076200	Weak transcription	Brain Anterior Caudate	brain
3	chr7:5039000-5078400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:5039400-5085000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:5049400-5072200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:5050600-5071800	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:5051200-5072400	Weak transcription	Fetal Kidney	kidney
8	chr7:5051200-5085200	Weak transcription	Aorta	Aorta
9	chr7:5051400-5069200	Weak transcription	Liver	Liver
10	chr7:5051800-5085000	Weak transcription	Brain Germinal Matrix	brain
11	chr7:5052000-5085000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:5059800-5075800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:5060000-5080800	Weak transcription	Primary T cells from cord blood	blood
14	chr7:5060200-5069000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:5060200-5076000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:5060200-5085000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:5060600-5073600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:5060800-5069200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:5060800-5078200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:5060800-5080800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:5060800-5083000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:5062600-5085000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:5063600-5079000	Weak transcription	Pancreas	Pancrea
24	chr7:5064600-5074800	Weak transcription	Fetal Stomach	stomach
25	chr7:5067800-5077200	Weak transcription	Gastric	stomach
26	chr7:5068000-5069000	Weak transcription	Thymus	Thymus
27	chr7:5068000-5070000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:5068000-5077400	Weak transcription	Lung	lung
29	chr7:5068000-5085000	Weak transcription	Ovary	ovary
30	chr7:5068600-5085000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:5071400-5071600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:5071600-5080600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:5073200-5085000	Weak transcription	Brain Angular Gyrus	brain
34	chr7:5073600-5073800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:5074800-5077400	Strong transcription	Fetal Stomach	stomach
36	chr7:5075800-5076400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr7:5076000-5077600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:5076400-5080800	Weak transcription	Thymus	Thymus
39	chr7:5076400-5085000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:5077400-5077800	Strong transcription	Lung	lung
41	chr7:5077400-5085000	Weak transcription	Fetal Stomach	stomach
42	chr7:5077600-5085000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:5077800-5085200	Weak transcription	Lung	lung
44	chr7:5080000-5080200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr7:5080200-5081000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:5080600-5081200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr7:5080600-5081400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:5080600-5081800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr7:5080600-5081800	Enhancers	Fetal Thymus	thymus
50	chr7:5080800-5081200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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