Variant report

Variant	rs543995
Chromosome Location	chr11:85485127-85485128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85471983..85474269-chr11:85484169..85487158,2	MCF-7	breast:
2	chr11:85484461..85487220-chr11:85491729..85494428,2	MCF-7	breast:
3	chr11:85484288..85486316-chr11:85486416..85488624,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11234410	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1151152	0.98[ASN][1000 genomes]
rs11604141	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11604178	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12792050	0.98[ASN][1000 genomes]
rs1445513	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17817179	0.89[ASN][1000 genomes]
rs493673	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs497158	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs510948	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs520629	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs521764	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs537604	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs558377	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs565494	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs578324	0.82[ASN][1000 genomes]
rs583122	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs592380	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs592712	0.87[ASN][1000 genomes]
rs609012	0.86[ASN][1000 genomes]
rs613973	0.82[ASN][1000 genomes]
rs61907272	0.91[ASN][1000 genomes]
rs631104	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs639688	0.86[ASN][1000 genomes]
rs644558	0.98[ASN][1000 genomes]
rs650036	0.86[ASN][1000 genomes]
rs650970	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs653559	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs666176	0.86[ASN][1000 genomes]
rs667080	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs681044	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs683903	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs688741	0.81[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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85469400-85485400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr11:85472000-85485400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr11:85474000-85487400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:85475600-85488200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:85478200-85486200	Weak transcription	Small Intestine	intestine
6	chr11:85478600-85486200	Weak transcription	Colonic Mucosa	Colon
7	chr11:85479200-85485400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:85479800-85485200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:85480200-85491800	Weak transcription	Gastric	stomach
10	chr11:85482000-85485400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr11:85482400-85486000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:85482800-85485200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:85483200-85485600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:85483200-85492800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:85483400-85486000	Enhancers	NHDF-Ad	bronchial
16	chr11:85483400-85486200	Enhancers	Fetal Kidney	kidney
17	chr11:85483400-85486200	Enhancers	NHLF	lung
18	chr11:85483600-85485800	Enhancers	Fetal Lung	lung
19	chr11:85483600-85486000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:85483800-85486400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr11:85484000-85485200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr11:85484200-85486400	Enhancers	Primary T cells from cord blood	blood
23	chr11:85484200-85486800	Enhancers	Fetal Intestine Large	intestine
24	chr11:85484200-85488000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:85484200-85488200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:85484400-85485400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:85484400-85485400	Weak transcription	Aorta	Aorta
28	chr11:85484400-85485400	Weak transcription	Fetal Muscle Leg	muscle
29	chr11:85484400-85486400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr11:85484400-85486400	Enhancers	HSMM	muscle
31	chr11:85484400-85486400	Enhancers	HSMMtube	muscle
32	chr11:85484400-85488000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr11:85484400-85488000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:85484400-85488000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr11:85484400-85488200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:85484600-85485200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:85484600-85486400	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr11:85484600-85487200	Enhancers	Stomach Mucosa	stomach
39	chr11:85484600-85488000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:85484600-85488000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:85484600-85488200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:85484600-85488200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:85484600-85488200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:85484600-85490800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr11:85484800-85485200	Weak transcription	Fetal Intestine Small	intestine
46	chr11:85484800-85485200	Weak transcription	NH-A	brain
47	chr11:85485000-85485400	Weak transcription	Ovary	ovary
48	chr11:85485000-85485600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:85485000-85486600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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