Variant report

Variant	rs387619
Chromosome Location	chr11:35098193-35098194
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	chr11:35097231..35099674-chr11:35101240..35103980,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1116470	0.91[EUR][1000 genomes]
rs1116471	0.91[EUR][1000 genomes]
rs1425805	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1834459	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1834460	0.90[EUR][1000 genomes]
rs1895821	0.91[EUR][1000 genomes]
rs2098878	0.91[EUR][1000 genomes]
rs2467600	0.82[AMR][1000 genomes]
rs2553772	0.90[EUR][1000 genomes]
rs2553773	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2553777	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2553783	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2553826	0.91[EUR][1000 genomes]
rs2553827	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2732540	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2732544	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2732546	0.88[EUR][1000 genomes]
rs2732547	0.88[EUR][1000 genomes]
rs2732549	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2732550	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2732552	0.87[EUR][1000 genomes]
rs2785152	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2785193	0.91[EUR][1000 genomes]
rs2785194	0.91[EUR][1000 genomes]
rs2785197	0.91[EUR][1000 genomes]
rs2785198	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2785201	0.88[EUR][1000 genomes]
rs2785202	0.87[EUR][1000 genomes]
rs353590	0.88[JPT][hapmap];0.83[MEX][hapmap]
rs353595	0.83[AMR][1000 genomes]
rs353597	0.83[AMR][1000 genomes]
rs353604	0.88[JPT][hapmap];0.83[MEX][hapmap];0.84[AMR][1000 genomes]
rs353607	0.84[AMR][1000 genomes]
rs353608	0.84[AMR][1000 genomes]
rs429503	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs627096	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs675970	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs693163	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs879487	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
10	esv2752912	chr11:35074167-35238578	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv508623	chr11:35094933-35203363	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35088600-35099000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:35088800-35099200	Weak transcription	Stomach Mucosa	stomach
3	chr11:35091200-35099800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:35092200-35099000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:35094800-35098200	Weak transcription	Thymus	Thymus
6	chr11:35095600-35099200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:35095800-35098400	Weak transcription	HMEC	breast
8	chr11:35095800-35098400	Weak transcription	NHEK	skin
9	chr11:35095800-35099000	Weak transcription	Osteobl	bone
10	chr11:35095800-35099200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:35095800-35099200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:35095800-35099200	Weak transcription	NHDF-Ad	bronchial
13	chr11:35096400-35099200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:35096600-35099200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr11:35096800-35098600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr11:35096800-35099200	Enhancers	Primary T cells from cord blood	blood
17	chr11:35096800-35099200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:35097000-35099200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr11:35097400-35098200	Enhancers	Dnd41	blood
20	chr11:35097600-35098200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr11:35097600-35098200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr11:35097600-35098600	Enhancers	Adipose Nuclei	Adipose
23	chr11:35097600-35099000	Enhancers	GM12878-XiMat	blood
24	chr11:35097600-35099200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr11:35097600-35099200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:35097600-35099200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr11:35097600-35099600	Enhancers	Hela-S3	cervix
28	chr11:35097600-35101400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:35097600-35103800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr11:35097600-35106400	Enhancers	Primary B cells from peripheral blood	blood
31	chr11:35097800-35098400	Weak transcription	A549	lung
32	chr11:35097800-35098800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr11:35097800-35098800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr11:35097800-35099000	Enhancers	Primary B cells from cord blood	blood
35	chr11:35097800-35099200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:35097800-35099400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:35097800-35099400	Enhancers	K562	blood
38	chr11:35097800-35099600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:35097800-35101000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:35097800-35102400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr11:35097800-35106600	Enhancers	Fetal Thymus	thymus
42	chr11:35098000-35098400	Enhancers	NHLF	lung
43	chr11:35098000-35098600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:35098000-35098600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:35098000-35098800	Enhancers	Liver	Liver
46	chr11:35098000-35098800	Enhancers	Pancreas	Pancrea
47	chr11:35098000-35098800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:35098000-35098800	Enhancers	Small Intestine	intestine
49	chr11:35098000-35099200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:35098000-35099200	Enhancers	Muscle Satellite Cultured Cells	--

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