Variant report

Variant	rs62109386
Chromosome Location	chr2:20069860-20069861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20066730..20071387-chr2:20098933..20103374,5	MCF-7	breast:
2	chr2:20066412..20068865-chr2:20069307..20071942,2	MCF-7	breast:
3	chr2:20068233..20072834-chr2:20097586..20102817,5	K562	blood:

Variant related genes	Relation type
ENSG00000183891	Chromatin interaction
ENSG00000271991	Chromatin interaction
ENSG00000228784	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10181645	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10196738	0.89[ASN][1000 genomes]
rs12992920	0.90[ASN][1000 genomes]
rs13028785	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1437865	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3731669	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4035116	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6531201	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6746710	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873711	chr2:19950864-20073860	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv873712	chr2:19955245-20131079	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv873713	chr2:19955245-20144372	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv455819	chr2:19987440-20095690	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv581155	chr2:19987440-20095690	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv873714	chr2:20019616-20113088	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv873715	chr2:20059323-20144372	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20063600-20070600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:20068800-20075600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:20068800-20086200	Weak transcription	Spleen	Spleen
4	chr2:20068800-20097200	Weak transcription	Aorta	Aorta
5	chr2:20069000-20098200	Weak transcription	Right Atrium	heart
6	chr2:20069200-20070200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:20069200-20072800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:20069200-20077600	Weak transcription	Fetal Lung	lung
9	chr2:20069400-20070000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr2:20069400-20070000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:20069400-20070000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:20069400-20070000	Enhancers	Fetal Intestine Large	intestine
13	chr2:20069400-20070000	Genic enhancers	Fetal Intestine Small	intestine
14	chr2:20069400-20070000	Enhancers	Fetal Muscle Trunk	muscle
15	chr2:20069400-20070400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr2:20069400-20070800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:20069400-20070800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:20069400-20071200	Weak transcription	Fetal Stomach	stomach
19	chr2:20069400-20072800	Weak transcription	Primary B cells from cord blood	blood
20	chr2:20069400-20075600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:20069400-20075800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:20069400-20076000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:20069400-20076200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:20069400-20078600	Weak transcription	Placenta	Placenta
25	chr2:20069600-20070200	Enhancers	Fetal Thymus	thymus
26	chr2:20069600-20070400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:20069600-20071400	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:20069600-20071600	Weak transcription	Thymus	Thymus
29	chr2:20069600-20072200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:20069600-20076000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:20069600-20079000	Weak transcription	NHDF-Ad	bronchial
32	chr2:20069600-20079800	Weak transcription	Lung	lung
33	chr2:20069600-20087800	Weak transcription	Gastric	stomach
34	chr2:20069800-20070000	Enhancers	Esophagus	oesophagus
35	chr2:20069800-20070600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr2:20069800-20071400	Weak transcription	Primary T cells from cord blood	blood
37	chr2:20069800-20072000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:20069800-20072800	Weak transcription	GM12878-XiMat	blood
39	chr2:20069800-20075000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr2:20069800-20079200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:20069800-20097200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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