Variant report

Variant	esv1826272
Chromosome Location	chr11:5375383-5383341
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	EP300	chr11:5383298-5383498	K562	blood:	n/a	n/a
2	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
3	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
4	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
5	POLR2A	chr11:5375723-5376010	HCT-116	colon:	n/a	n/a
6	POLR2A	chr11:5382541-5382549	K562	blood:	n/a	n/a
7	POLR2A	chr11:5376315-5376370	Gliobla	brain:	n/a	n/a
8	POLR2A	chr11:5379158-5379322	K562	blood:	n/a	n/a
9	POLR2A	chr11:5378510-5378730	K562	blood:	n/a	n/a
10	RCOR1	chr11:5383274-5383676	K562	blood:	n/a	n/a
11	TBL1XR1	chr11:5383337-5383522	K562	blood:	n/a	n/a
12	TBL1XR1	chr11:5375622-5375623	GM12878	blood:	n/a	n/a

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

Variant related genes	Relation type
ENSG00000230087	TF binding region
ENSG00000236248	TF binding region
ENSG00000223247	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000223609	chromatin interactions
ENSG00000188069	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000260629	chromatin interactions
ENSG00000204950	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000229988	chromatin interactions
ENSG00000222414	chromatin interactions

Extended variants
information (count: 538 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:538 , 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	rs4910760	chr11:5375383-5375384	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs199797201	chr11:5375396-5375397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200748586	chr11:5375398-5375399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370514488	chr11:5375399-5375400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369449933	chr11:5375400-5375401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111619048	chr11:5375429-5375430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374754765	chr11:5375439-5375440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150429648	chr11:5375464-5375465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112562131	chr11:5375465-5375466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117980808	chr11:5375468-5375469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569478218	chr11:5375469-5375470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145289763	chr11:5375485-5375486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371791032	chr11:5375491-5375492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4910761	chr11:5375509-5375510	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs551801804	chr11:5375518-5375519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs207471632	chr11:5375529-5375530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548103737	chr11:5375533-5375534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185751635	chr11:5375635-5375636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536699441	chr11:5375642-5375643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571193324	chr11:5375672-5375673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142337100	chr11:5375684-5375685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72334686	chr11:5375703-5375704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371926580	chr11:5375705-5375706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570095154	chr11:5375743-5375744	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs146422243	chr11:5375757-5375758	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs2647597	chr11:5375761-5375762	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11604556	chr11:5375763-5375764	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190165676	chr11:5375792-5375793	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs2736565	chr11:5375819-5375820	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574346389	chr11:5375841-5375842	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs555891419	chr11:5375869-5375870	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs112513849	chr11:5375889-5375890	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs35198500	chr11:5375904-5375905	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs138900977	chr11:5375967-5375968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545935953	chr11:5375969-5375970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565463811	chr11:5375990-5375991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181859558	chr11:5376019-5376020	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111689261	chr11:5376027-5376028	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377131551	chr11:5376030-5376031	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2736564	chr11:5376038-5376039	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2736563	chr11:5376042-5376043	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs76021557	chr11:5376043-5376044	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577954783	chr11:5376077-5376078	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376369681	chr11:5376085-5376086	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79334526	chr11:5376118-5376119	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569740193	chr11:5376119-5376120	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530877116	chr11:5376121-5376122	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142910962	chr11:5376125-5376126	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115435447	chr11:5376131-5376132	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534863487	chr11:5376134-5376135	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:18 , 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	chr11:5370200-5376000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:5373000-5376800	Strong transcription	K562	blood
4	chr11:5376000-5376800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:5376800-5382600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:5376800-5382600	Weak transcription	K562	blood
7	chr11:5382600-5383200	Strong transcription	K562	blood
8	chr11:5382600-5383600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:5382600-5384000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:5382800-5384000	Enhancers	Hela-S3	cervix
11	chr11:5382800-5384200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:5382800-5385600	Enhancers	NHDF-Ad	bronchial
13	chr11:5383000-5386600	Enhancers	NH-A	brain
14	chr11:5383000-5387400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:5383200-5383400	Enhancers	Osteobl	bone
16	chr11:5383200-5383800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:5383200-5383800	Enhancers	NHLF	lung
18	chr11:5383200-5388400	Genic enhancers	K562	blood

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