Variant report

Variant	rs7515191
Chromosome Location	chr1:94367097-94367098
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94343732..94346422-chr1:94366022..94369432,3	MCF-7	breast:
2	chr1:94343372..94347640-chr1:94364498..94367458,3	K562	blood:
3	chr1:94342433..94344872-chr1:94364498..94367701,3	K562	blood:
4	chr1:94366538..94368489-chr1:94369960..94371845,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067334	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10874808	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874809	1.00[ASW][hapmap];0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165006	0.80[JPT][hapmap]
rs11165030	0.90[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.81[MKK][hapmap];0.84[TSI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11165031	0.82[JPT][hapmap]
rs12083303	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12122176	0.81[JPT][hapmap]
rs2064764	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391323	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391324	0.82[JPT][hapmap]
rs3170633	1.00[ASW][hapmap];0.84[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761912	1.00[ASW][hapmap];0.95[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827715	0.82[JPT][hapmap]
rs6667121	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6675820	0.86[ASN][1000 genomes]
rs6680315	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6687387	1.00[ASW][hapmap];0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689601	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs718875	0.82[JPT][hapmap]
rs7513671	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515813	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7517826	1.00[ASW][hapmap];0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533596	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549683	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs769211	0.82[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523355	chr1:94351328-94385591	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7515191	GCLM	Cis_1M	lymphoblastoid	RTeQTL
rs7515191	GCLM	cis	Thyroid	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94345000-94374200	Weak transcription	Gastric	stomach
2	chr1:94345000-94374200	Weak transcription	Spleen	Spleen
3	chr1:94345200-94374000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:94345200-94374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:94345400-94369400	Weak transcription	Colonic Mucosa	Colon
6	chr1:94345400-94373200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:94345400-94373200	Weak transcription	Brain Substantia Nigra	brain
8	chr1:94345400-94373800	Weak transcription	Fetal Stomach	stomach
9	chr1:94345400-94374000	Weak transcription	Right Ventricle	heart
10	chr1:94345600-94369400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:94345600-94369400	Weak transcription	Fetal Lung	lung
12	chr1:94345600-94369800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr1:94345600-94371600	Weak transcription	Fetal Kidney	kidney
14	chr1:94345600-94373000	Weak transcription	Fetal Brain Female	brain
15	chr1:94345600-94373200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:94345600-94373200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:94345600-94373200	Weak transcription	Fetal Brain Male	brain
18	chr1:94345600-94373400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:94345600-94373400	Weak transcription	Psoas Muscle	Psoas
20	chr1:94345600-94373400	Weak transcription	Stomach Mucosa	stomach
21	chr1:94345600-94373600	Weak transcription	Brain Germinal Matrix	brain
22	chr1:94345800-94369200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:94345800-94371200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:94347400-94374200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:94347600-94367600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:94350400-94367200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:94350600-94369400	Strong transcription	HMEC	breast
28	chr1:94351200-94367400	Strong transcription	Liver	Liver
29	chr1:94352800-94370400	Weak transcription	Lung	lung
30	chr1:94352800-94373000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:94353000-94367400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:94353600-94367200	Strong transcription	Osteobl	bone
33	chr1:94353600-94368200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:94353800-94367200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:94354200-94370400	Weak transcription	Small Intestine	intestine
36	chr1:94354200-94372600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:94354600-94373400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:94356600-94369400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:94356600-94372600	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:94357200-94373800	Weak transcription	Thymus	Thymus
41	chr1:94357400-94374000	Weak transcription	Aorta	Aorta
42	chr1:94357600-94369400	Weak transcription	Primary T cells from cord blood	blood
43	chr1:94357600-94374200	Weak transcription	Pancreas	Pancrea
44	chr1:94357800-94373200	Weak transcription	Esophagus	oesophagus
45	chr1:94357800-94374000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:94359800-94370000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:94359800-94373800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:94359800-94374000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:94360400-94368600	Strong transcription	HUVEC	blood vessel
50	chr1:94360400-94373200	Weak transcription	H1 Cell Line	embryonic stem cell

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