Variant report

Variant	rs331458
Chromosome Location	chr11:36521806-36521807
allele	C/T
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	FOS	chr11:36521616-36522611	HUVEC	blood vessel:	n/a	chr11:36522208-36522219
2	TCF12	chr11:36521650-36522555	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr11:36521780-36522415	SK-N-SH	brain:	n/a	n/a
4	ATF2	chr11:36521776-36522363	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:36521713-36522072	GM12892	blood:	n/a	n/a
6	GATA3	chr11:36521710-36522583	SK-N-SH	brain:	n/a	chr11:36522427-36522434
7	JUND	chr11:36521791-36522452	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr11:36521674-36522373	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr11:36521766-36522433	U87	brain:	n/a	n/a
10	POLR2A	chr11:36521713-36522206	HUVEC	blood vessel:	n/a	n/a
11	TCF12	chr11:36521787-36522567	SK-N-SH	brain:	n/a	n/a
12	MAX	chr11:36521751-36522420	SK-N-SH	brain:	n/a	n/a
13	FOSL2	chr11:36521761-36522550	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr11:36521804-36522111	Gliobla	brain:	n/a	n/a
15	JUND	chr11:36521731-36522517	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr11:36521632-36522417	HUVEC	blood vessel:	n/a	n/a
17	MEF2A	chr11:36521773-36522449	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:36520913..36523596-chr11:36531535..36533082,2	K562	blood:
2	chr11:36520918..36523181-chr11:36525815..36527986,2	K562	blood:
3	chr11:36519978..36521868-chr11:36530889..36533233,2	MCF-7	breast:

Variant related genes	Relation type
TRAF6	TF binding region
ENSG00000166349	Chromatin interaction
ENSG00000175104	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1515062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2173394	1.00[EUR][1000 genomes]
rs230485	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2458930	0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2673017	1.00[EUR][1000 genomes]
rs2673018	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331430	0.84[AFR][1000 genomes]
rs331431	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331449	1.00[AMR][1000 genomes]
rs331451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331461	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331475	1.00[AMR][1000 genomes]
rs34340782	1.00[EUR][1000 genomes]
rs34574486	1.00[EUR][1000 genomes]
rs34608958	1.00[EUR][1000 genomes]
rs496289	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs505296	0.86[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs510479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs520074	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60287310	1.00[EUR][1000 genomes]
rs61475582	1.00[EUR][1000 genomes]
rs6484862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs692743	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs693068	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7109588	1.00[EUR][1000 genomes]
rs7125448	1.00[AMR][1000 genomes];1.00[EUR][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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36490000-36530400	Weak transcription	Esophagus	oesophagus
2	chr11:36500800-36522400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:36502200-36523400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:36504400-36524000	Weak transcription	Stomach Mucosa	stomach
5	chr11:36504800-36522800	Strong transcription	Liver	Liver
6	chr11:36504800-36523000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr11:36505400-36523200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:36506600-36523200	Strong transcription	Placenta	Placenta
9	chr11:36507400-36524800	Weak transcription	Psoas Muscle	Psoas
10	chr11:36508800-36530400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:36510000-36523200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:36510000-36525600	Strong transcription	Fetal Thymus	thymus
13	chr11:36510200-36523400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr11:36510400-36523000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr11:36510400-36523000	Strong transcription	Adipose Nuclei	Adipose
16	chr11:36510400-36523800	Strong transcription	Primary B cells from cord blood	blood
17	chr11:36510600-36524600	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:36510600-36525400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr11:36510800-36523200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:36511000-36526000	Strong transcription	Dnd41	blood
21	chr11:36511800-36523400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:36512200-36530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:36512400-36523400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:36512400-36525000	Weak transcription	Spleen	Spleen
25	chr11:36512400-36529800	Weak transcription	Colonic Mucosa	Colon
26	chr11:36513800-36524200	Weak transcription	Pancreas	Pancrea
27	chr11:36513800-36529800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:36513800-36530000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:36513800-36530400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:36513800-36530400	Weak transcription	Lung	lung
31	chr11:36514000-36522000	Weak transcription	Right Ventricle	heart
32	chr11:36514000-36529600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:36514000-36530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:36514000-36530800	Weak transcription	Small Intestine	intestine
35	chr11:36515400-36523200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:36516000-36523000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:36516600-36522400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:36516800-36522200	Strong transcription	K562	blood
39	chr11:36516800-36524000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:36517400-36523800	Strong transcription	Primary T cells from cord blood	blood
41	chr11:36518000-36522800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:36518000-36523600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr11:36518000-36530400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:36518400-36523400	Strong transcription	Fetal Lung	lung
45	chr11:36518600-36523200	Strong transcription	Thymus	Thymus
46	chr11:36519000-36529800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:36519600-36522800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:36519800-36522400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:36520000-36525600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr11:36520200-36522200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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