Variant report

Variant	rs34502475
Chromosome Location	chr11:17030940-17030941
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17000031..17001967-chr11:17030020..17032761,3	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10734250	0.92[EUR][1000 genomes]
rs10741719	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741720	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741721	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741722	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10766370	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10766371	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10766372	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832713	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10832715	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10832716	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832717	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832718	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832719	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10832720	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832721	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024111	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12288625	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365483	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418132	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12808675	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1468489	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34437677	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34819854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35115039	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4351794	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4562807	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756881	0.82[EUR][1000 genomes]
rs4756882	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4756883	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757467	0.82[EUR][1000 genomes]
rs4757479	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4757482	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4757483	0.92[EUR][1000 genomes]
rs4757484	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4757485	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757486	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757487	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757488	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757489	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757490	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757491	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757492	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757493	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881311	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486332	0.87[EUR][1000 genomes]
rs6486335	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6486336	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486337	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486339	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486340	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6486341	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486342	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486343	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486344	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7101679	0.87[EUR][1000 genomes]
rs7117262	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484746	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7481059	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7926143	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7928955	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7929923	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7930890	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7931025	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7933984	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937479	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7940499	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7947297	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947897	0.84[EUR][1000 genomes]
rs992698	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17004800-17034200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:17006400-17034000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:17009400-17032600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:17009800-17032600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:17009800-17032600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:17013400-17033800	Weak transcription	Brain Substantia Nigra	brain
7	chr11:17016400-17034600	Weak transcription	Aorta	Aorta
8	chr11:17018800-17032000	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:17019000-17032600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:17019400-17034800	Weak transcription	Lung	lung
11	chr11:17019800-17034600	Weak transcription	Right Ventricle	heart
12	chr11:17021000-17034000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:17021000-17034200	Weak transcription	Colonic Mucosa	Colon
14	chr11:17021200-17034600	Weak transcription	Right Atrium	heart
15	chr11:17022000-17034600	Weak transcription	Brain Angular Gyrus	brain
16	chr11:17023200-17032600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:17023200-17033600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:17025600-17032600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:17026800-17032200	Strong transcription	Fetal Intestine Small	intestine
20	chr11:17027800-17032800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:17028600-17032600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:17028800-17032600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:17028800-17033400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:17029600-17031400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:17029600-17031400	Strong transcription	Fetal Intestine Large	intestine
26	chr11:17029800-17031000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:17029800-17033400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr11:17030000-17032600	Weak transcription	Brain Anterior Caudate	brain
29	chr11:17030200-17032800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:17030200-17033000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:17030400-17032200	Weak transcription	A549	lung
32	chr11:17030400-17033600	Weak transcription	Esophagus	oesophagus
33	chr11:17030800-17031000	Enhancers	Fetal Kidney	kidney
34	chr11:17030800-17031400	Weak transcription	Fetal Stomach	stomach
35	chr11:17030800-17032000	Weak transcription	Stomach Mucosa	stomach
36	chr11:17030800-17032400	Weak transcription	Pancreas	Pancrea
37	chr11:17030800-17032400	Weak transcription	HepG2	liver
38	chr11:17030800-17032600	Weak transcription	Liver	Liver
39	chr11:17030800-17032600	Weak transcription	Gastric	stomach
40	chr11:17030800-17034600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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