Variant report

Variant	rs10501597
Chromosome Location	chr11:85481691-85481692
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	chr11:85475609..85477419-chr11:85479383..85481786,2	K562	blood:
2	chr11:85479990..85482394-chr11:85489064..85491141,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10898409	0.85[ASN][1000 genomes]
rs11234386	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11234387	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11234388	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11234389	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11234390	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11234391	1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11234392	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11234393	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11234395	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11234397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11234404	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11234408	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11234409	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11234413	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11234415	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11234416	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11234418	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11607789	0.85[CHB][hapmap]
rs12286030	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12286043	0.86[ASN][1000 genomes]
rs12286206	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12365370	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17148355	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17148514	0.85[CHB][hapmap]
rs17208525	1.00[CHB][hapmap]
rs17208602	1.00[CHB][hapmap]
rs17208616	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs17209127	1.00[CEU][hapmap]
rs17810701	1.00[CHB][hapmap]
rs17810766	1.00[CHB][hapmap]
rs17810802	1.00[CHB][hapmap]
rs17810855	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs17811120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2044393	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2276018	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2304342	1.00[CHB][hapmap]
rs2304343	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3891432	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs494119	1.00[CHB][hapmap]
rs616309	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs645798	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs678376	0.85[CHB][hapmap]
rs73518846	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv832222	chr11:85405712-85603981	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv898050	chr11:85406915-85499290	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv555639	chr11:85436352-85495269	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1047147	chr11:85459235-85594800	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv541114	chr11:85459235-85594800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	esv2762927	chr11:85468051-85559618	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv1052737	chr11:85477084-85554914	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv541115	chr11:85477084-85554914	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85460600-85483800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:85469400-85485400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:85471800-85482600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:85471800-85483200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:85472000-85485400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr11:85472600-85484600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:85474000-85487400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:85475600-85488200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:85476000-85482400	Weak transcription	HSMM	muscle
10	chr11:85478200-85486200	Weak transcription	Small Intestine	intestine
11	chr11:85478600-85483400	Weak transcription	NHLF	lung
12	chr11:85478600-85486200	Weak transcription	Colonic Mucosa	Colon
13	chr11:85478800-85484000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:85479200-85483400	Weak transcription	NHDF-Ad	bronchial
15	chr11:85479200-85484000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:85479200-85485400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:85479400-85482400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:85479400-85483600	Weak transcription	Stomach Mucosa	stomach
19	chr11:85479400-85483800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:85479400-85484000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:85479800-85485200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:85480000-85484400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:85480200-85483400	Weak transcription	Fetal Kidney	kidney
24	chr11:85480200-85491800	Weak transcription	Gastric	stomach
25	chr11:85480600-85482000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:85481000-85483000	Weak transcription	Fetal Stomach	stomach
27	chr11:85481200-85482000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr11:85481200-85484000	Weak transcription	Aorta	Aorta
29	chr11:85481200-85484200	Weak transcription	Primary T cells from cord blood	blood
30	chr11:85481200-85484200	Weak transcription	Fetal Intestine Small	intestine
31	chr11:85481600-85482400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:85481600-85484200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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