Variant report

Variant	rs11761312
Chromosome Location	chr7:128338844-128338845
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128311065..128312727-chr7:128337751..128339462,2	K562	blood:
2	chr7:128171099..128172769-chr7:128337309..128338976,2	K562	blood:
3	chr7:128335938..128338927-chr7:128468938..128472224,3	K562	blood:
4	chr7:128332579..128336216-chr7:128338226..128341696,3	K562	blood:
5	chr7:128049553..128051541-chr7:128337995..128340649,2	K562	blood:

Variant related genes	Relation type
ENSG00000205085	Chromatin interaction
ENSG00000242588	Chromatin interaction
ENSG00000128591	Chromatin interaction
ENSG00000273270	Chromatin interaction
ENSG00000239722	Chromatin interaction
ENSG00000106348	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10224862	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10233059	0.83[AMR][1000 genomes]
rs10241185	0.89[AMR][1000 genomes]
rs10242806	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253131	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10259359	0.85[AMR][1000 genomes]
rs10270431	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10270985	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10274878	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10276810	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10954205	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11766319	0.82[AMR][1000 genomes]
rs11768485	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12333625	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12535238	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536288	0.89[ASN][1000 genomes]
rs12706858	1.00[ASN][1000 genomes]
rs13224613	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13233377	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235219	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13237593	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246302	0.82[AMR][1000 genomes]
rs28521711	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs339070	1.00[ASN][1000 genomes]
rs339071	1.00[ASN][1000 genomes]
rs339074	1.00[ASN][1000 genomes]
rs339079	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339093	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34120723	0.89[AMR][1000 genomes]
rs34490491	0.81[EUR][1000 genomes]
rs34751214	0.81[EUR][1000 genomes]
rs34887739	0.82[AMR][1000 genomes]
rs35247963	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35336068	0.93[AFR][1000 genomes]
rs35825132	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35871589	0.82[EUR][1000 genomes]
rs3816421	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4289745	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55953818	0.83[AMR][1000 genomes]
rs60029447	0.83[AMR][1000 genomes]
rs6467181	0.85[AMR][1000 genomes]
rs6467201	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6467205	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6943737	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946179	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954329	0.96[AFR][1000 genomes]
rs6960296	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6961754	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6967393	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6971819	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6972787	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976879	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977126	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546786	0.83[AMR][1000 genomes]
rs71548762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777625	0.82[AMR][1000 genomes]
rs7778731	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7787764	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7790478	1.00[ASN][1000 genomes]
rs7804472	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7810047	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811083	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7811484	0.81[AFR][1000 genomes]
rs9690934	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9692416	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9768808	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9769753	0.83[AMR][1000 genomes];0.80[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	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv966738	chr7:128325654-128339129	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11761312	RP11-274B21.10	cis	Thyroid	GTEx
rs11761312	CICP14	cis	Muscle Skeletal	GTEx
rs11761312	CICP14	cis	lung	GTEx
rs11761312	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs11761312	RP11-274B21.10	cis	Esophagus Mucosa	GTEx
rs11761312	CICP14	cis	Esophagus Mucosa	GTEx
rs11761312	CICP14	cis	Thyroid	GTEx
rs11761312	CICP14	cis	Nerve Tibial	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128338000-128339000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:128338000-128339600	Weak transcription	Pancreas	Pancrea
3	chr7:128338000-128341000	Weak transcription	HMEC	breast
4	chr7:128338000-128346000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:128338400-128339400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:128338400-128339600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:128338600-128339000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:128338600-128339400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:128338600-128339400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:128338600-128339600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:128338600-128339600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:128338600-128349000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:128338800-128339000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:128338800-128339600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:128338800-128339800	Enhancers	H1 Cell Line	embryonic stem cell

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