Variant report

Variant	esv1820728
Chromosome Location	chr7:5054220-5080909
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	BATF	chr7:5060863-5061106	GM12878	blood:	n/a	chr7:5061058-5061069
3	BATF	chr7:5060882-5061162	GM12878	blood:	n/a	chr7:5061058-5061069
4	CBX3	chr7:5060893-5061123	K562	blood:	n/a	n/a
5	CBX3	chr7:5060833-5061140	K562	blood:	n/a	n/a
6	CEBPB	chr7:5059795-5060049	IMR90	lung:	n/a	chr7:5059895-5059906
7	CEBPB	chr7:5059771-5060024	H1-hESC	embryonic stem cell:	n/a	chr7:5059895-5059906
8	CEBPB	chr7:5059741-5060058	Hela-S3	cervix:	n/a	chr7:5059895-5059906
9	CEBPB	chr7:5059680-5060036	MCF-7	breast:	n/a	chr7:5059895-5059906
10	CEBPB	chr7:5059714-5060075	HepG2	liver:	n/a	chr7:5059895-5059906
11	CEBPB	chr7:5059865-5060037	K562	blood:	n/a	chr7:5059895-5059906
12	CEBPB	chr7:5059725-5060064	A549	lung:	n/a	chr7:5059895-5059906
13	CTCF	chr7:5069974-5070001	GM13977	blood:	n/a	n/a
14	CTCF	chr7:5072616-5072657	GM13976	blood:	n/a	n/a
15	CTCF	chr7:5080745-5080802	Lung_OC	lung:	n/a	n/a
16	CTCF	chr7:5076000-5076087	GM13976	blood:	n/a	n/a
17	CTCF	chr7:5079856-5079889	LNCaP	prostate:	n/a	n/a
18	CTCF	chr7:5067515-5067554	GM10248	blood:	n/a	n/a
19	CTCF	chr7:5061622-5061677	GM13976	blood:	n/a	n/a
20	CTCF	chr7:5071184-5071239	Spleen_OC	spleen:	n/a	n/a
21	CTCF	chr7:5055660-5055810	GM12864	blood:	n/a	n/a
22	CTCF	chr7:5059800-5059950	HepG2	liver:	n/a	n/a
23	EBF1	chr7:5056621-5056916	GM12878	blood:	n/a	n/a
24	EBF1	chr7:5080704-5080898	GM12878	blood:	n/a	n/a
25	EBF1	chr7:5056659-5056840	GM12878	blood:	n/a	n/a
26	GATA2	chr7:5060791-5060893	SH-SY5Y	brain:	n/a	n/a
27	KAP1	chr7:5060828-5061036	K562	blood:	n/a	n/a
28	MAFF	chr7:5057786-5058012	HepG2	liver:	n/a	n/a
29	MAFK	chr7:5057797-5058032	HepG2	liver:	n/a	chr7:5057911-5057922 chr7:5057911-5057922 chr7:5057910-5057924 chr7:5057912-5057923 chr7:5057911-5057927 chr7:5057912-5057923 chr7:5057911-5057926
30	MAFK	chr7:5057885-5057972	K562	blood:	n/a	chr7:5057911-5057922 chr7:5057911-5057922 chr7:5057910-5057924 chr7:5057912-5057923 chr7:5057911-5057927 chr7:5057912-5057923 chr7:5057911-5057926
31	MAFK	chr7:5057776-5058089	HepG2	liver:	n/a	chr7:5057911-5057922 chr7:5057911-5057922 chr7:5057910-5057924 chr7:5057912-5057923 chr7:5057911-5057927 chr7:5057912-5057923 chr7:5057911-5057926
32	MYC	chr7:5070345-5070489	GM12878	blood:	n/a	n/a
33	PAX5	chr7:5080686-5081041	GM12878	blood:	n/a	n/a
34	PAX5	chr7:5080675-5080953	GM12878	blood:	n/a	n/a
35	PAX5	chr7:5077711-5077916	GM12878	blood:	n/a	n/a
36	PAX5	chr7:5056670-5056823	GM12878	blood:	n/a	n/a
37	POLR2A	chr7:5070518-5071774	K562	blood:	n/a	n/a
38	POLR2A	chr7:5078064-5078189	K562	blood:	n/a	n/a
39	POLR2A	chr7:5063374-5063380	MCF-7	breast:	n/a	n/a
40	POLR2A	chr7:5072393-5072822	GM12878	blood:	n/a	n/a
41	POLR2A	chr7:5077635-5077922	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:5070877-5071067	HepG2	liver:	n/a	n/a
43	POLR2A	chr7:5079077-5079118	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr7:5055625-5055662	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr7:5074852-5075036	K562	blood:	n/a	n/a
46	POLR2A	chr7:5071181-5071369	GM12878	blood:	n/a	n/a
47	POLR2A	chr7:5063386-5063397	MCF-7	breast:	n/a	n/a
48	POU2F2	chr7:5077695-5078046	GM12878	blood:	n/a	n/a
49	POU2F2	chr7:5072450-5072755	GM12878	blood:	n/a	n/a
50	REST	chr7:5071634-5071912	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5060704-5060754	AG10803	skin:	n/a
2	chr7:5060704-5060754	NT2-D1	testis:	n/a
3	chr7:5060704-5060754	PFSK-1	brain:	n/a
4	chr7:5060704-5060754	AoSMC	blood vessel:	n/a
5	chr7:5060704-5060754	HCPEpiC	choroid plexus:	n/a
6	chr7:5060704-5060754	BJ	skin:	n/a
7	chr7:5060704-5060754	HIPEpiC	eye:	n/a
8	chr7:5060704-5060754	NH-A	brain:	n/a
9	chr7:5060704-5060754	U87	brain:	n/a
10	chr7:5060704-5060754	HEK293	kidney:	embryo
11	chr7:5060704-5060754	BE2_C	brain:	n/a
12	chr7:5060704-5060754	T-47D	breast:	n/a
13	chr7:5060704-5060754	GM12892	blood:	n/a
14	chr7:5060704-5060754	HCM	heart:	n/a
15	chr7:5060704-5060754	Hela-S3	cervix:	n/a
16	chr7:5060704-5060754	NHDF-neo	bronchial:	n/a
17	chr7:5060704-5060754	HMEC	breast:	n/a
18	chr7:5060704-5060754	HRE	kidney:	n/a
19	chr7:5060704-5060754	HCF	heart:	n/a
20	chr7:5060704-5060754	CMK	blood:	n/a
21	chr7:5060704-5060754	AG09319	gingival:	n/a
22	chr7:5060704-5060754	Caco-2	colon:	n/a
23	chr7:5060704-5060754	GM12891	blood:	n/a
24	chr7:5060704-5060754	AG04450	lung:	fetal
25	chr7:5060704-5060754	PANC-1	pancreas:	n/a
26	chr7:5060704-5060754	RPTEC	kidney:	n/a
27	chr7:5060704-5060754	HRCEpiC	kidney:	n/a
28	chr7:5060704-5060754	PrEC	prostate:	n/a
29	chr7:5060704-5060754	HEEpiC	esophagus:	n/a
30	chr7:5060704-5060754	MCF-7	breast:	n/a
31	chr7:5060704-5060754	ovcar-3	ovarian:	n/a
32	chr7:5060704-5060754	MCF10A-Er-Src	breast:	n/a
33	chr7:5060704-5060754	HPAEpiC	pulmonary alveolar:	n/a
34	chr7:5060704-5060754	A549	lung:	n/a
35	chr7:5060704-5060754	SAEC	small airway:	n/a
36	chr7:5060704-5060754	K562	blood:	n/a
37	chr7:5060704-5060754	HRPEpiC	eye:	n/a
38	chr7:5060704-5060754	NHBE	bronchial:	n/a
39	chr7:5060704-5060754	Jurkat	blood:	n/a
40	chr7:5060704-5060754	AG04449	skin:	fetal
41	chr7:5060704-5060754	NB4	blood:	n/a
42	chr7:5060704-5060754	ProgFib	skin:	n/a
43	chr7:5060704-5060754	HepG2	liver:	n/a
44	chr7:5060704-5060754	SK-N-SH_RA	brain:	n/a
45	chr7:5060704-5060754	GM12878	blood:	n/a
46	chr7:5060704-5060754	GM06990	blood:	n/a
47	chr7:5060704-5060754	LNCaP	prostate:	n/a
48	chr7:5060704-5060754	Hepatocyte	liver:	n/a
49	chr7:5060704-5060754	HNPCEpiC	eye:	n/a
50	chr7:5060704-5060754	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5036476..5038927-chr7:5061168..5063261,2	MCF-7	breast:

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

Extended variants
information (count: 1362 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1362 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576667995	chr7:5054220-5054221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532544716	chr7:5054221-5054222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567612076	chr7:5054271-5054272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189950109	chr7:5054278-5054279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112951575	chr7:5054294-5054295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9886313	chr7:5054320-5054321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs147356111	chr7:5054324-5054325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139077640	chr7:5054329-5054330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576127925	chr7:5054388-5054389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543016907	chr7:5054454-5054455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28449930	chr7:5054468-5054469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573608298	chr7:5054501-5054502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530082077	chr7:5054518-5054519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548572788	chr7:5054570-5054571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12670409	chr7:5054597-5054598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs534449764	chr7:5054627-5054628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545743942	chr7:5054652-5054653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559327778	chr7:5054684-5054685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561441250	chr7:5054721-5054722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61116960	chr7:5054728-5054729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs371312686	chr7:5054732-5054733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544932667	chr7:5054743-5054744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573276944	chr7:5054751-5054752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563216807	chr7:5054759-5054760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61296609	chr7:5054778-5054779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549059116	chr7:5054787-5054788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376462485	chr7:5054790-5054791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182253796	chr7:5054813-5054814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186562012	chr7:5054884-5054885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190938369	chr7:5054919-5054920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184037339	chr7:5055026-5055027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539205357	chr7:5055077-5055078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7794361	chr7:5055100-5055101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs569532384	chr7:5055124-5055125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56169938	chr7:5055185-5055186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146629960	chr7:5055199-5055200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7793449	chr7:5055200-5055201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs111603861	chr7:5055228-5055229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112413103	chr7:5055244-5055245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544762636	chr7:5055245-5055246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563243068	chr7:5055258-5055259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374770467	chr7:5055271-5055272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575191963	chr7:5055291-5055292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533313705	chr7:5055302-5055303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61545738	chr7:5055308-5055309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs561159321	chr7:5055364-5055365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182852307	chr7:5055380-5055381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34823543	chr7:5055413-5055414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565342957	chr7:5055504-5055505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150431792	chr7:5055515-5055516	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:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5029800-5059400	Weak transcription	NHDF-Ad	bronchial
2	chr7:5036600-5064200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr7:5037000-5054400	Weak transcription	Small Intestine	intestine
4	chr7:5037000-5058600	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:5037200-5059400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:5037600-5062000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:5037600-5064800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:5038000-5061400	Weak transcription	HSMMtube	muscle
9	chr7:5038200-5066000	Weak transcription	Brain Substantia Nigra	brain
10	chr7:5038800-5067600	Weak transcription	Gastric	stomach
11	chr7:5038800-5085000	Weak transcription	Spleen	Spleen
12	chr7:5039000-5058600	Weak transcription	Brain Angular Gyrus	brain
13	chr7:5039000-5076200	Weak transcription	Brain Anterior Caudate	brain
14	chr7:5039000-5078400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:5039200-5060400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:5039400-5059200	Weak transcription	Thymus	Thymus
17	chr7:5039400-5085000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:5040200-5059600	Weak transcription	Adipose Nuclei	Adipose
19	chr7:5041800-5066200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:5043000-5058600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:5045000-5063400	Weak transcription	Pancreas	Pancrea
22	chr7:5045400-5065200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:5045800-5059000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:5045800-5059400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:5045800-5059800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:5047600-5063600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr7:5048200-5059000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:5049000-5056800	Weak transcription	Primary B cells from cord blood	blood
29	chr7:5049000-5061400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:5049200-5059000	Weak transcription	Ovary	ovary
31	chr7:5049400-5060600	Weak transcription	A549	lung
32	chr7:5049400-5061400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:5049400-5072200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:5049600-5059000	Weak transcription	Dnd41	blood
35	chr7:5049800-5057800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr7:5049800-5064000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:5050200-5065400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:5050600-5066800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:5050600-5071800	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:5051000-5059000	Weak transcription	Primary T cells from cord blood	blood
41	chr7:5051000-5059000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:5051000-5059800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:5051000-5059800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:5051000-5062400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:5051000-5067000	Weak transcription	Fetal Lung	lung
46	chr7:5051200-5057000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:5051200-5057000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:5051200-5058400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:5051200-5058800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr7:5051200-5059000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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