Variant report

Variant	esv1832580
Chromosome Location	chr11:5376038-5383707
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	BHLHE40	chr11:5383352-5383583	K562	blood:	n/a	n/a
2	EP300	chr11:5383298-5383498	K562	blood:	n/a	n/a
3	EP300	chr11:5383370-5383809	Hela-S3	cervix:	n/a	n/a
4	GATA2	chr11:5383292-5384109	HUVEC	blood vessel:	n/a	chr11:5383785-5383792 chr11:5383479-5383486 chr11:5383785-5383795 chr11:5383717-5383738 chr11:5383783-5383792 chr11:5383780-5383796 chr11:5383785-5383792 chr11:5383782-5383796 chr11:5383778-5383799 chr11:5383785-5383792 chr11:5383783-5383793 chr11:5383479-5383489
5	GATA3	chr11:5383289-5383955	SK-N-SH	brain:	n/a	chr11:5383785-5383792 chr11:5383479-5383486 chr11:5383785-5383795 chr11:5383717-5383738 chr11:5383783-5383792 chr11:5383780-5383796 chr11:5383785-5383792 chr11:5383778-5383799 chr11:5383785-5383792 chr11:5383783-5383793 chr11:5383479-5383489
6	GATA3	chr11:5383278-5384003	SK-N-SH	brain:	n/a	chr11:5383785-5383792 chr11:5383479-5383486 chr11:5383785-5383795 chr11:5383717-5383738 chr11:5383783-5383792 chr11:5383780-5383796 chr11:5383785-5383792 chr11:5383778-5383799 chr11:5383785-5383792 chr11:5383783-5383793 chr11:5383479-5383489
7	POLR2A	chr11:5382541-5382549	K562	blood:	n/a	n/a
8	POLR2A	chr11:5383391-5383426	K562	blood:	n/a	n/a
9	POLR2A	chr11:5378510-5378730	K562	blood:	n/a	n/a
10	POLR2A	chr11:5379158-5379322	K562	blood:	n/a	n/a
11	POLR2A	chr11:5376315-5376370	Gliobla	brain:	n/a	n/a
12	PRDM1	chr11:5383345-5383590	Hela-S3	cervix:	n/a	chr11:5383479-5383494 chr11:5383434-5383449
13	RCOR1	chr11:5383274-5383676	K562	blood:	n/a	n/a
14	TBL1XR1	chr11:5383337-5383522	K562	blood:	n/a	n/a
15	USF2	chr11:5383414-5383603	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5382283..5382803-chr11:62608620..62609139,4	MCF-7	breast:
2	chr11:5381283..5382803-chr17:41463769..41467201,6	K562	blood:
3	chr11:5381283..5382783-chr17:41380573..41383525,2	MCF-7	breast:
4	chr11:5382283..5383283-chr3:73160073..73160610,2	Hela-S3	cervix:
5	chr1:212997378..212997898-chr11:5382283..5382803,2	HCT-116	colon:
6	chr11:5381283..5382803-chr3:73159944..73161618,3	MCF-7	breast:
7	chr11:5381283..5382783-chr17:41380312..41381821,2	MCF-7	breast:
8	chr11:5381283..5382803-chr5:133457468..133458988,2	K562	blood:
9	11:5250847-5268367..11:5380014-5384338	H1-hESC	embryonic stem cell:	embryo
10	chr10:103124107..103125128-chr11:5382283..5382803,4	HCT-116	colon:
11	chr11:5382283..5382803-chr3:73159935..73160621,4	MCF-7	breast:
12	chr11:5382283..5382803-chr18:21285383..21285903,2	Hela-S3	cervix:
13	chr11:5382283..5383303-chr11:62608619..62609221,10	Hela-S3	cervix:
14	chr11:5382283..5382803-chr2:16124613..16125133,2	MCF-7	breast:
15	chr11:5381303..5382803-chr11:62607635..62609203,2	MCF-7	breast:
16	chr11:5381283..5382803-chr3:73158604..73161608,4	K562	blood:
17	chr10:103124128..103124630-chr11:5382283..5382783,2	MCF-7	breast:
18	chr11:5381283..5382783-chr17:41464201..41465702,2	MCF-7	breast:
19	chr11:5381283..5382803-chr17:41463815..41467678,7	K562	blood:
20	chr11:5382283..5382803-chr11:62608622..62609624,4	MCF-7	breast:
21	chr11:5381283..5382803-chr11:62607627..62609148,3	K562	blood:
22	11:4789513-4794705..11:5380014-5384338	H1-hESC	embryonic stem cell:	embryo
23	chr11:5382283..5382803-chr11:62608619..62609221,11	HCT-116	colon:
24	chr11:5381283..5382803-chr11:61276233..61277753,2	K562	blood:
25	chr11:5382303..5383283-chr3:73159952..73160632,4	NB4	blood:
26	chr11:5381283..5382803-chr3:73159067..73161609,3	K562	blood:
27	chr11:5381283..5382803-chr17:41380385..41382126,2	K562	blood:
28	chr11:5382803..5384303-chr11:62607722..62610627,2	K562	blood:
29	chr11:5382283..5383303-chr3:73159935..73160633,6	HCT-116	colon:
30	chr11:5381283..5382803-chr17:41464203..41466198,2	MCF-7	breast:
31	chr11:5381283..5382803-chr17:41398716..41402368,7	K562	blood:

Variant related genes	Relation type
ENSG00000236248	TF binding region
ENSG00000133316	chromatin interactions
ENSG00000260629	chromatin interactions
ENSG00000222414	chromatin interactions
ENSG00000229988	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000204950	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000188069	chromatin interactions
ENSG00000223609	chromatin interactions

Extended variants
information (count: 524 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2736564	chr11:5376038-5376039	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2736563	chr11:5376042-5376043	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs76021557	chr11:5376043-5376044	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577954783	chr11:5376077-5376078	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376369681	chr11:5376085-5376086	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79334526	chr11:5376118-5376119	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569740193	chr11:5376119-5376120	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530877116	chr11:5376121-5376122	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142910962	chr11:5376125-5376126	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115435447	chr11:5376131-5376132	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534863487	chr11:5376134-5376135	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540673926	chr11:5376136-5376137	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552982526	chr11:5376142-5376143	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114487162	chr11:5376171-5376172	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535388418	chr11:5376172-5376173	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146973291	chr11:5376206-5376207	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184599232	chr11:5376222-5376223	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2647598	chr11:5376276-5376277	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2647599	chr11:5376340-5376341	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188570465	chr11:5376342-5376343	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148035554	chr11:5376363-5376364	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543155505	chr11:5376374-5376375	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141759858	chr11:5376392-5376393	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181292379	chr11:5376394-5376395	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76625142	chr11:5376412-5376413	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563324021	chr11:5376440-5376441	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530838930	chr11:5376441-5376442	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2736562	chr11:5376443-5376444	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs2647600	chr11:5376450-5376451	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2736561	chr11:5376468-5376469	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528585178	chr11:5376477-5376478	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185272412	chr11:5376506-5376507	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74491145	chr11:5376510-5376511	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538509599	chr11:5376519-5376520	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550923274	chr11:5376529-5376530	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556925860	chr11:5376565-5376566	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189358152	chr11:5376571-5376572	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575172643	chr11:5376578-5376579	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572931378	chr11:5376584-5376585	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150534507	chr11:5376665-5376666	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553500642	chr11:5376685-5376686	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574965754	chr11:5376701-5376702	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542484237	chr11:5376705-5376706	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563683182	chr11:5376718-5376719	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575222840	chr11:5376724-5376725	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34589268	chr11:5376762-5376763	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs398114991	chr11:5376763-5376764	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201772731	chr11:5376764-5376765	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182295100	chr11:5376766-5376767	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138550899	chr11:5376778-5376779	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5365600-5382600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:5373000-5376800	Strong transcription	K562	blood
3	chr11:5376000-5376800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:5376800-5382600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:5376800-5382600	Weak transcription	K562	blood
6	chr11:5382600-5383200	Strong transcription	K562	blood
7	chr11:5382600-5383600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:5382600-5384000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:5382800-5384000	Enhancers	Hela-S3	cervix
10	chr11:5382800-5384200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:5382800-5385600	Enhancers	NHDF-Ad	bronchial
12	chr11:5383000-5386600	Enhancers	NH-A	brain
13	chr11:5383000-5387400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:5383200-5383400	Enhancers	Osteobl	bone
15	chr11:5383200-5383800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:5383200-5383800	Enhancers	NHLF	lung
17	chr11:5383200-5388400	Genic enhancers	K562	blood
18	chr11:5383400-5383600	Enhancers	HUVEC	blood vessel
19	chr11:5383400-5383800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:5383400-5384200	Weak transcription	Osteobl	bone

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