Variant report

Variant	rs951586
Chromosome Location	chr11:71783665-71783666
allele	A/G
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	TBP	chr11:71783427-71783683	Hela-S3	cervix:	n/a	n/a
2	NFIC	chr11:71783197-71783790	ECC-1	luminal epithelium:	n/a	n/a
3	SIN3AK20	chr11:71783309-71783715	SK-N-SH	brain:	n/a	n/a
4	MAX	chr11:71783225-71783817	SK-N-SH	brain:	n/a	n/a
5	JUND	chr11:71783097-71783853	HCT-116	colon:	n/a	n/a
6	TCF7L2	chr11:71783311-71783721	MCF-7	breast:	n/a	chr11:71783528-71783542 chr11:71783531-71783540
7	FOS	chr11:71783355-71783668	MCF10A-Er-Src	breast:	n/a	n/a
8	SP1	chr11:71783198-71783928	HCT-116	colon:	n/a	n/a
9	TEAD4	chr11:71783254-71783836	SK-N-SH	brain:	n/a	n/a
10	FOS	chr11:71783317-71783695	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:71783214-71783681	HUVEC	blood vessel:	n/a	n/a
12	FOS	chr11:71783333-71783742	MCF10A-Er-Src	breast:	n/a	n/a
13	MYC	chr11:71783514-71783703	HUVEC	blood vessel:	n/a	n/a
14	JUND	chr11:71783230-71783882	HCT-116	colon:	n/a	n/a
15	TCF12	chr11:71783015-71783882	SK-N-SH	brain:	n/a	n/a
16	TCF7L2	chr11:71783204-71783829	Hela-S3	cervix:	n/a	chr11:71783528-71783542 chr11:71783531-71783540
17	SP1	chr11:71783104-71783991	HCT-116	colon:	n/a	n/a
18	POLR2A	chr11:71782972-71783831	HUVEC	blood vessel:	n/a	n/a
19	MAX	chr11:71783224-71783852	ECC-1	luminal epithelium:	n/a	n/a
20	MYC	chr11:71783250-71783709	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr11:71783384-71783678	MCF10A-Er-Src	breast:	n/a	n/a
22	CBX3	chr11:71783110-71783893	HCT-116	colon:	n/a	n/a
23	TCF7L2	chr11:71783352-71783704	HCT-116	colon:	n/a	chr11:71783528-71783542 chr11:71783531-71783540
24	FOS	chr11:71783100-71783721	HUVEC	blood vessel:	n/a	n/a
25	CEBPB	chr11:71783105-71783915	HCT-116	colon:	n/a	n/a
26	JUN	chr11:71783122-71783676	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr11:71783260-71783703	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr11:71783229-71783667	HUVEC	blood vessel:	n/a	n/a
29	CEBPB	chr11:71783209-71783804	IMR90	lung:	n/a	n/a
30	FOSL1	chr11:71783129-71783869	HCT-116	colon:	n/a	n/a
31	GATA2	chr11:71783257-71783722	HUVEC	blood vessel:	n/a	n/a
32	FOS	chr11:71783350-71783682	MCF10A-Er-Src	breast:	n/a	n/a
33	FOSL2	chr11:71783210-71783844	SK-N-SH	brain:	n/a	n/a
34	TCF7L2	chr11:71783201-71783778	PANC-1	pancreas:	n/a	chr11:71783528-71783542 chr11:71783531-71783540
35	MAX	chr11:71783040-71783892	HCT-116	colon:	n/a	n/a
36	CEBPB	chr11:71783308-71783739	Hela-S3	cervix:	n/a	n/a
37	SIN3AK20	chr11:71783085-71783814	HCT-116	colon:	n/a	n/a
38	TCF12	chr11:71783134-71783791	SK-N-SH	brain:	n/a	n/a
39	SMC3	chr11:71783210-71783670	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:71783125-71783833	HUVEC	blood vessel:	n/a	n/a
41	MYC	chr11:71783418-71783742	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr11:71783217-71783753	HCT-116	colon:	n/a	n/a
43	NFIC	chr11:71783180-71783914	SK-N-SH	brain:	n/a	n/a
44	MAX	chr11:71783290-71783743	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
2	chr11:71749103..71754368-chr11:71778297..71785639,14	MCF-7	breast:
3	chr11:71781171..71786362-chr11:71787519..71793039,9	K562	blood:
4	chr11:71765074..71767512-chr11:71783461..71785130,2	MCF-7	breast:
5	chr11:71780985..71784804-chr11:71822969..71825529,4	K562	blood:
6	chr11:71783566..71785134-chr11:71785385..71786915,2	K562	blood:

Variant related genes	Relation type
NUMA1	TF binding region
MIR3165	TF binding region
ENSG00000110200	Chromatin interaction
ENSG00000212089	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000206783	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28395796	1.00[AMR][1000 genomes]
rs5743664	1.00[AMR][1000 genomes]
rs5743669	1.00[AMR][1000 genomes]
rs5743670	1.00[AMR][1000 genomes]
rs5743676	1.00[AMR][1000 genomes]
rs5743678	1.00[AMR][1000 genomes]
rs61749192	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71754200-71789600	Weak transcription	Fetal Brain Female	brain
2	chr11:71767400-71786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:71771600-71789800	Weak transcription	Fetal Brain Male	brain
4	chr11:71778400-71789800	Weak transcription	Brain Germinal Matrix	brain
5	chr11:71779200-71784600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:71779200-71786200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:71779400-71784400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:71779400-71790200	Weak transcription	Thymus	Thymus
9	chr11:71780200-71784800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:71780200-71785000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr11:71780400-71784600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:71780600-71784400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:71780600-71790800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:71781000-71784400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:71781000-71784600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:71781000-71784600	Enhancers	NHDF-Ad	bronchial
17	chr11:71781000-71790400	Weak transcription	Primary T cells from cord blood	blood
18	chr11:71781200-71783800	Enhancers	HepG2	liver
19	chr11:71781200-71789600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:71781400-71783800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:71781400-71783800	Enhancers	NHLF	lung
22	chr11:71781600-71784000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:71781600-71784000	Enhancers	A549	lung
24	chr11:71781600-71789400	Weak transcription	Liver	Liver
25	chr11:71781600-71789600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:71781800-71789800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:71781800-71791000	Weak transcription	Aorta	Aorta
28	chr11:71782000-71783800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr11:71782000-71784000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr11:71782000-71786200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr11:71782000-71786200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:71782000-71789800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:71782000-71789800	Weak transcription	Stomach Mucosa	stomach
34	chr11:71782000-71790200	Weak transcription	Ovary	ovary
35	chr11:71782200-71786200	Weak transcription	K562	blood
36	chr11:71782400-71784000	Enhancers	HSMMtube	muscle
37	chr11:71782800-71783800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:71782800-71783800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr11:71782800-71783800	Enhancers	Small Intestine	intestine
40	chr11:71782800-71784000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:71782800-71784000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:71782800-71784000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr11:71782800-71784400	Enhancers	Fetal Lung	lung
44	chr11:71783000-71783800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr11:71783000-71783800	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr11:71783000-71783800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr11:71783000-71783800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:71783000-71783800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:71783000-71783800	Enhancers	Adipose Nuclei	Adipose
50	chr11:71783000-71783800	Enhancers	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links