Variant report

Variant	rs7951653
Chromosome Location	chr11:10541701-10541702
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10534893..10539429-chr11:10540096..10542426,4	K562	blood:
2	chr11:10541656..10544963-chr11:10560896..10564071,4	K562	blood:
3	chr11:10540505..10542590-chr11:10544048..10545735,2	K562	blood:
4	chr11:10540875..10544152-chr11:10546119..10548762,4	K562	blood:

Variant related genes	Relation type
ENSG00000110315	Chromatin interaction
ENSG00000177112	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10219205	0.85[CEU][hapmap]
rs10437597	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10500726	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1065052	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1074375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1074377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840431	0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs10840435	0.88[ASN][1000 genomes]
rs10840436	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10840438	0.85[CEU][hapmap]
rs12277871	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12279850	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1531479	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs16907989	0.86[CEU][hapmap]
rs1870951	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1993817	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993818	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054392	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2071018	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs34466373	0.98[ASN][1000 genomes]
rs3741037	0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs3741038	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3741039	0.93[ASN][1000 genomes]
rs3741041	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3781863	0.88[ASN][1000 genomes]
rs4910146	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4910153	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6484344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7941294	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1044011	chr11:10529353-10564450	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv819964	chr11:10537254-10545535	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7951653	MRVI1	cis	normal skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10501600-10550600	Weak transcription	Small Intestine	intestine
2	chr11:10502600-10560800	Weak transcription	Fetal Brain Male	brain
3	chr11:10507800-10544800	Weak transcription	Fetal Kidney	kidney
4	chr11:10512800-10548600	Weak transcription	Right Ventricle	heart
5	chr11:10516000-10544000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:10520000-10543400	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:10522400-10546200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:10522400-10560800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:10524600-10544800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:10525800-10555600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr11:10526400-10548800	Weak transcription	Spleen	Spleen
12	chr11:10526400-10549000	Weak transcription	Ovary	ovary
13	chr11:10526400-10551800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:10526400-10561600	Weak transcription	Colonic Mucosa	Colon
15	chr11:10526800-10548800	Weak transcription	Psoas Muscle	Psoas
16	chr11:10527600-10542400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:10528000-10542600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:10528400-10548800	Weak transcription	K562	blood
19	chr11:10528400-10550600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:10528400-10555800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr11:10533200-10542800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr11:10533200-10549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:10533200-10552000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:10533200-10561600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:10533200-10561600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:10533400-10561400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:10533600-10543400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:10533600-10543800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:10533800-10543800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:10533800-10557400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr11:10535600-10556200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:10536400-10546000	Weak transcription	A549	lung
33	chr11:10536400-10555600	Strong transcription	Primary B cells from cord blood	blood
34	chr11:10536600-10543400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:10536600-10548600	Weak transcription	NH-A	brain
36	chr11:10536800-10544000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:10537000-10543400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr11:10537000-10543400	Weak transcription	HUVEC	blood vessel
39	chr11:10537600-10548800	Weak transcription	Brain Germinal Matrix	brain
40	chr11:10538200-10544400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:10538200-10561600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:10538400-10550600	Weak transcription	Pancreas	Pancrea
43	chr11:10538400-10561600	Weak transcription	Esophagus	oesophagus
44	chr11:10538400-10561600	Weak transcription	Lung	lung
45	chr11:10539200-10544000	Weak transcription	HepG2	liver
46	chr11:10539200-10548600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:10539400-10555800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr11:10539600-10543800	Strong transcription	Fetal Thymus	thymus
49	chr11:10539600-10545000	Strong transcription	HSMM	muscle
50	chr11:10539600-10547800	Strong transcription	Osteobl	bone

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