Variant report

Variant	rs11188631
Chromosome Location	chr10:97911795-97911796
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	POLR2A	chr10:97911746-97911837	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:97889731..97891560-chr10:97911556..97915285,3	K562	blood:
2	chr10:97802573..97805014-chr10:97910795..97914340,3	K562	blood:
3	chr10:97910420..97912683-chr10:97924000..97927291,3	K562	blood:
4	chr10:97906115..97908290-chr10:97911726..97914595,2	K562	blood:

Variant related genes	Relation type
ZNF518A	TF binding region
ENSG00000226688	Chromatin interaction
ENSG00000107443	Chromatin interaction
ENSG00000177853	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10491070	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10509695	1.00[JPT][hapmap]
rs10509700	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10509701	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10509703	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs10882718	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10882723	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882728	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs11188575	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11188596	1.00[CHB][hapmap]
rs11188604	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11188606	0.88[ASN][1000 genomes]
rs11188613	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs11188618	0.94[ASN][1000 genomes]
rs11188622	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188626	0.83[ASN][1000 genomes]
rs11188627	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs11188632	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188635	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11188656	1.00[CHB][hapmap]
rs11591374	1.00[YRI][hapmap]
rs11593049	1.00[CHB][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11595809	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11596126	1.00[YRI][hapmap]
rs11597197	0.94[ASN][1000 genomes]
rs11598546	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11598837	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11599170	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11599662	1.00[YRI][hapmap]
rs12354644	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12359842	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs12411569	1.00[JPT][hapmap]
rs12761705	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12768772	1.00[YRI][hapmap]
rs12771933	1.00[YRI][hapmap]
rs12778345	1.00[YRI][hapmap]
rs17383738	0.89[YRI][hapmap]
rs2039616	1.00[CHB][hapmap]
rs2125060	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3961944	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4344425	1.00[JPT][hapmap]
rs60450792	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7081169	0.90[YRI][hapmap]
rs7096164	1.00[YRI][hapmap]
rs713070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7896077	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916068	0.95[YRI][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11188631	ZNF518	cis	lesional skin	skin_eQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97890600-97912800	Weak transcription	Esophagus	oesophagus
2	chr10:97890800-97912800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:97890800-97917200	Weak transcription	Small Intestine	intestine
4	chr10:97890800-97922400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:97891000-97913400	Weak transcription	Brain Germinal Matrix	brain
6	chr10:97891000-97914000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:97891000-97927000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr10:97891400-97916400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr10:97891400-97918200	Weak transcription	NHLF	lung
10	chr10:97891600-97913400	Weak transcription	Fetal Heart	heart
11	chr10:97891800-97921400	Weak transcription	Stomach Mucosa	stomach
12	chr10:97892000-97912200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr10:97892400-97924800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:97892800-97924200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:97895200-97917600	Weak transcription	NH-A	brain
16	chr10:97895800-97911800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr10:97897400-97911800	Weak transcription	NHEK	skin
18	chr10:97897800-97916600	Weak transcription	HMEC	breast
19	chr10:97900400-97916400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr10:97902600-97912800	Weak transcription	Osteobl	bone
21	chr10:97903000-97912600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr10:97903200-97923000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr10:97903600-97920200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr10:97903800-97916200	Weak transcription	HUVEC	blood vessel
25	chr10:97904000-97911800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr10:97904000-97918800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:97904200-97912200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr10:97904600-97912200	Weak transcription	Fetal Brain Female	brain
29	chr10:97906000-97914400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr10:97908600-97913400	Weak transcription	Hela-S3	cervix
31	chr10:97909000-97918800	Strong transcription	HepG2	liver
32	chr10:97909400-97914800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:97910000-97917800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr10:97910600-97914200	Strong transcription	Fetal Intestine Small	intestine
35	chr10:97910600-97917000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:97910600-97918200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr10:97910600-97918400	Strong transcription	Liver	Liver
38	chr10:97910600-97918600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr10:97910600-97918600	Strong transcription	Left Ventricle	heart
40	chr10:97910600-97919200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr10:97910600-97919800	Strong transcription	Dnd41	blood
42	chr10:97910800-97912400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr10:97910800-97912600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr10:97910800-97914800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr10:97910800-97915000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr10:97910800-97917200	Strong transcription	Primary T cells from cord blood	blood
47	chr10:97910800-97918600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:97910800-97918800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr10:97910800-97918800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr10:97910800-97919200	Strong transcription	Fetal Intestine Large	intestine

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