Variant report

Variant	rs7130826
Chromosome Location	chr11:17037793-17037794
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17037168..17039319-chr11:17083342..17085313,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10832725	0.88[AMR][1000 genomes]
rs10832727	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11024113	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11024116	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11024130	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11024131	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11024186	0.83[LWK][hapmap]
rs12288579	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12293395	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12794156	0.81[EUR][1000 genomes]
rs34902253	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4237716	0.86[JPT][hapmap]
rs4255517	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4456241	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4468326	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4517490	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4757470	0.86[JPT][hapmap]
rs4757473	0.86[JPT][hapmap]
rs56030184	0.84[EUR][1000 genomes]
rs6486345	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6486346	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6486347	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6486348	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71047522	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7106954	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7117166	0.81[AMR][1000 genomes]
rs7924495	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7929927	0.95[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7934571	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7934608	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7934694	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7935162	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7935420	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7935677	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7937770	0.94[ASN][1000 genomes]
rs7937880	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7949405	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7950225	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7952426	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv825771	chr11:17027229-17048360	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
4	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7130826	BTBD10	cis	parietal	SCAN
rs7130826	NUCB2	Cis_1M	lymphoblastoid	RTeQTL
rs7130826	PDE3B	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17036400-17038200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr11:17036600-17041000	Weak transcription	HSMMtube	muscle
3	chr11:17036800-17041000	Weak transcription	HSMM	muscle
4	chr11:17037000-17037800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr11:17037000-17037800	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr11:17037000-17037800	Bivalent Enhancer	Placenta	Placenta
7	chr11:17037000-17042400	Weak transcription	Liver	Liver
8	chr11:17037000-17050200	Weak transcription	Adipose Nuclei	Adipose
9	chr11:17037200-17037800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr11:17037200-17037800	Enhancers	Duodenum Mucosa	Duodenum
11	chr11:17037200-17037800	Enhancers	Fetal Intestine Small	intestine
12	chr11:17037200-17037800	Enhancers	Pancreas	Pancrea
13	chr11:17037200-17037800	Enhancers	HepG2	liver
14	chr11:17037200-17042800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:17037200-17043000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:17037200-17050400	Weak transcription	Brain Anterior Caudate	brain
17	chr11:17037200-17056000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:17037400-17037800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:17037400-17037800	Enhancers	Stomach Mucosa	stomach
20	chr11:17037400-17044400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:17037600-17037800	Enhancers	Fetal Intestine Large	intestine
22	chr11:17037600-17037800	Enhancers	Fetal Kidney	kidney
23	chr11:17037600-17037800	Bivalent Enhancer	Fetal Lung	lung
24	chr11:17037600-17037800	Enhancers	Fetal Stomach	stomach
25	chr11:17037600-17038000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:17037600-17038000	Enhancers	A549	lung
27	chr11:17037600-17040400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:17037600-17042600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:17037600-17042800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:17037600-17046400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:17037600-17048400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:17037600-17049400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr11:17037600-17058400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:17037600-17058600	Weak transcription	Gastric	stomach

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