Variant report

Variant	rs497158
Chromosome Location	chr11:85492775-85492776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85491140..85492854-chr11:85498576..85500721,2	MCF-7	breast:
2	chr11:85484461..85487220-chr11:85491729..85494428,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11234410	0.92[ASN][1000 genomes]
rs1151152	0.90[ASN][1000 genomes]
rs11604141	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11604178	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12792050	0.90[ASN][1000 genomes]
rs1445513	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17817179	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs510948	0.87[ASN][1000 genomes]
rs520629	0.93[ASN][1000 genomes]
rs521764	0.93[ASN][1000 genomes]
rs537604	0.87[ASN][1000 genomes]
rs543995	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs565494	0.91[ASN][1000 genomes]
rs592712	0.83[ASN][1000 genomes]
rs609012	0.81[ASN][1000 genomes]
rs61907272	0.97[ASN][1000 genomes]
rs631104	0.87[ASN][1000 genomes]
rs639688	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs640620	0.82[AMR][1000 genomes]
rs644558	0.90[ASN][1000 genomes]
rs650036	0.81[ASN][1000 genomes]
rs650970	0.83[ASN][1000 genomes]
rs666176	0.83[ASN][1000 genomes]
rs667080	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs683903	0.85[EUR][1000 genomes];0.93[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	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
13	nsv1049630	chr11:85486866-85535123	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85483200-85492800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:85485600-85492800	Weak transcription	Ovary	ovary
3	chr11:85486400-85496200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:85488200-85493000	Enhancers	Fetal Intestine Large	intestine
5	chr11:85488600-85494800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:85489200-85492800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:85490800-85493000	Enhancers	Duodenum Mucosa	Duodenum
8	chr11:85490800-85493000	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr11:85490800-85493000	Enhancers	NHDF-Ad	bronchial
10	chr11:85490800-85493200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr11:85490800-85493400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr11:85491000-85492800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr11:85491000-85499600	Enhancers	Stomach Mucosa	stomach
14	chr11:85491200-85493400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:85491400-85493000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr11:85491400-85493200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr11:85491600-85492800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:85491600-85493400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:85491600-85499000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:85491800-85492800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr11:85491800-85493200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr11:85491800-85493400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr11:85491800-85493600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:85491800-85517800	Weak transcription	NHLF	lung
25	chr11:85492000-85492800	Weak transcription	Gastric	stomach
26	chr11:85492000-85496000	Weak transcription	A549	lung
27	chr11:85492000-85498000	Weak transcription	Colonic Mucosa	Colon
28	chr11:85492200-85492800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:85492200-85502800	Weak transcription	Small Intestine	intestine
30	chr11:85492400-85493000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr11:85492400-85493200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr11:85492400-85493400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr11:85492400-85494000	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr11:85492600-85492800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:85492600-85493000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:85492600-85493000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:85492600-85493000	Enhancers	Primary T cells from cord blood	blood
38	chr11:85492600-85493000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:85492600-85493000	Enhancers	HMEC	breast

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