Variant report

Variant	rs11761624
Chromosome Location	chr7:100110324-100110325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100109320..100110996-chr7:100111395..100113903,2	K562	blood:
2	chr7:100108459..100110759-chr7:100131246..100132938,2	K562	blood:
3	chr7:100030256..100031765-chr7:100109016..100111307,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1000215	1.00[CHD][hapmap]
rs10085549	1.00[CHD][hapmap]
rs1073	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11559117	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11760536	1.00[CHD][hapmap]
rs11761253	1.00[CHD][hapmap]
rs11761725	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11761784	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11763511	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11764818	1.00[ASN][1000 genomes]
rs11765869	1.00[CHD][hapmap]
rs11766202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766752	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11769057	1.00[CHD][hapmap]
rs11769700	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11769886	1.00[CHD][hapmap]
rs11772580	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773661	1.00[ASN][1000 genomes]
rs1962269	1.00[ASN][1000 genomes]
rs2406253	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2406255	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs28490152	1.00[CHD][hapmap]
rs28578163	1.00[CHD][hapmap]
rs28629346	1.00[ASN][1000 genomes]
rs2897358	1.00[ASN][1000 genomes]
rs34989573	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs35111986	1.00[CHD][hapmap]
rs3900792	1.00[CHD][hapmap]
rs4074838	0.83[CHD][hapmap];1.00[ASN][1000 genomes]
rs4385401	1.00[ASN][1000 genomes]
rs4463351	1.00[ASN][1000 genomes]
rs4469386	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4472444	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs4989959	1.00[ASN][1000 genomes]
rs60257855	1.00[ASN][1000 genomes]
rs60478351	1.00[ASN][1000 genomes]
rs60644673	1.00[ASN][1000 genomes]
rs60844404	1.00[ASN][1000 genomes]
rs66648318	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66958101	1.00[ASN][1000 genomes]
rs67040465	0.86[ASN][1000 genomes]
rs67196635	1.00[ASN][1000 genomes]
rs67239991	1.00[ASN][1000 genomes]
rs67483801	1.00[ASN][1000 genomes]
rs67885733	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945952	1.00[CHD][hapmap]
rs6948685	1.00[CHD][hapmap]
rs6948699	1.00[ASN][1000 genomes]
rs6953107	1.00[ASN][1000 genomes]
rs6955362	0.83[CHD][hapmap];1.00[ASN][1000 genomes]
rs6955367	1.00[CHD][hapmap]
rs6962151	1.00[ASN][1000 genomes]
rs6965458	1.00[CHD][hapmap]
rs6972167	0.86[ASN][1000 genomes]
rs6974286	1.00[ASN][1000 genomes]
rs6975514	1.00[ASN][1000 genomes]
rs6975729	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6978739	1.00[ASN][1000 genomes]
rs6979335	1.00[ASN][1000 genomes]
rs705866	1.00[CHD][hapmap]
rs73405353	1.00[ASN][1000 genomes]
rs7778181	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7783159	1.00[CHD][hapmap]
rs7783550	1.00[CHD][hapmap]
rs7787620	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7787825	1.00[ASN][1000 genomes]
rs7794485	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7800667	1.00[ASN][1000 genomes]
rs7809801	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7811142	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
5	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
6	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
7	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
8	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv527050	chr7:100056166-100125975	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
11	nsv888783	chr7:100073292-100136241	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv518760	chr7:100110324-100119643	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv522427	chr7:100110324-100119643	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs11761624	GNB2	cis	parietal	SCAN
rs11761624	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs11761624	PILRB	cis	parietal	SCAN
rs11761624	PILRA	cis	parietal	SCAN
rs11761624	PVRIG	Cis_1M	lymphoblastoid	RTeQTL
rs11761624	GATS	cis	parietal	SCAN
rs11761624	ZCWPW1	cis	parietal	SCAN
rs11761624	PILRA	cis	Skin Sun Exposed Lower leg	GTEx
rs11761624	ZCWPW1	cis	cerebellum	SCAN
rs11761624	PILRB	cis	cerebellum	SCAN
rs11761624	PILRB	cis	lung	GTEx
rs11761624	C7orf61	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100091800-100136200	Weak transcription	Right Atrium	heart
2	chr7:100104400-100112800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:100107200-100111800	Weak transcription	NHDF-Ad	bronchial
4	chr7:100107200-100112200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:100107200-100112400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:100107200-100112400	Weak transcription	Adipose Nuclei	Adipose
7	chr7:100107200-100112600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:100107200-100112800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:100107200-100112800	Weak transcription	Fetal Lung	lung
10	chr7:100107400-100111800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:100107400-100111800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:100107400-100112600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:100107400-100112600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:100107400-100112600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:100107400-100112600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:100107400-100112600	Weak transcription	Fetal Stomach	stomach
17	chr7:100107400-100112600	Weak transcription	HMEC	breast
18	chr7:100107400-100112600	Weak transcription	NHEK	skin
19	chr7:100107400-100112800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:100107400-100113200	Weak transcription	Placenta	Placenta
21	chr7:100107600-100112600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:100108800-100112400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:100108800-100112600	Weak transcription	HepG2	liver
24	chr7:100109400-100114200	Enhancers	K562	blood

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