Variant report

Variant	rs2785152
Chromosome Location	chr11:35070068-35070069
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1834459	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2553773	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2553777	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2553783	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2553827	0.82[EUR][1000 genomes]
rs2732540	0.82[EUR][1000 genomes]
rs2732544	0.82[EUR][1000 genomes]
rs2732549	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2732550	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2785198	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs387619	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs429503	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs627096	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs675970	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs693163	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs879487	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv430371	chr11:34975067-35111292	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv1826391	chr11:35000983-35098193	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv541000	chr11:35053717-35185471	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv541001	chr11:35053717-35224624	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv2757437	chr11:35067482-35238578	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35061000-35071800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:35061800-35072800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:35062600-35070200	Weak transcription	Stomach Mucosa	stomach
4	chr11:35062600-35070400	Weak transcription	Esophagus	oesophagus
5	chr11:35062800-35071800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:35062800-35073600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr11:35063000-35071600	Weak transcription	K562	blood
8	chr11:35064000-35077200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:35064400-35072000	Weak transcription	HSMMtube	muscle
10	chr11:35065000-35070400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:35065200-35071000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr11:35065200-35073200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr11:35065400-35072600	Enhancers	Primary B cells from peripheral blood	blood
14	chr11:35065600-35073200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:35066400-35070400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:35066400-35070400	Weak transcription	Adipose Nuclei	Adipose
17	chr11:35066800-35070400	Weak transcription	Spleen	Spleen
18	chr11:35067000-35071600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:35067200-35070400	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:35067200-35070400	Weak transcription	Pancreas	Pancrea
21	chr11:35067200-35071600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr11:35067400-35070800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr11:35067400-35071200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:35067400-35071800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:35067600-35070400	Weak transcription	Fetal Stomach	stomach
26	chr11:35067800-35070600	Weak transcription	Fetal Intestine Large	intestine
27	chr11:35067800-35070800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:35067800-35071600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr11:35067800-35071800	Enhancers	Primary T cells from cord blood	blood
30	chr11:35068400-35070400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr11:35068400-35070800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr11:35068600-35070400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:35068800-35070400	Weak transcription	Lung	lung
34	chr11:35068800-35071800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:35069000-35070400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:35069000-35071000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:35069200-35070200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr11:35069200-35071000	Weak transcription	Thymus	Thymus
39	chr11:35069400-35070400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:35069400-35070400	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:35069400-35070600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr11:35069400-35074000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr11:35069600-35070400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:35069600-35071000	Weak transcription	Dnd41	blood
45	chr11:35069600-35071800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:35069600-35074000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr11:35069800-35070400	Weak transcription	Fetal Thymus	thymus
48	chr11:35069800-35070600	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:35069800-35070600	Enhancers	Placenta	Placenta
50	chr11:35070000-35070200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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