Variant report

Variant	rs62191404
Chromosome Location	chr2:182336080-182336081
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10203703	1.00[EUR][1000 genomes]
rs10209150	1.00[EUR][1000 genomes]
rs62191395	1.00[EUR][1000 genomes]
rs62191396	1.00[EUR][1000 genomes]
rs62191398	1.00[EUR][1000 genomes]
rs62191400	1.00[EUR][1000 genomes]
rs62191401	1.00[EUR][1000 genomes]
rs62191402	1.00[EUR][1000 genomes]
rs62191403	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:182324400-182410400	Weak transcription	NHLF	lung
2	chr2:182324600-182336400	Weak transcription	Small Intestine	intestine
3	chr2:182324600-182337600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:182324600-182340400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:182324600-182360400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:182326200-182337800	Weak transcription	Spleen	Spleen
7	chr2:182328000-182346400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:182328200-182337800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:182330000-182390200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:182331000-182347200	Weak transcription	NH-A	brain
11	chr2:182331400-182344800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:182331400-182363400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:182331400-182382200	Weak transcription	HMEC	breast
14	chr2:182331800-182339800	Weak transcription	HSMM	muscle
15	chr2:182332200-182349200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:182332200-182353000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:182333000-182337600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:182333000-182340400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:182333400-182336400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:182333400-182336400	Weak transcription	HSMMtube	muscle
21	chr2:182333400-182338000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:182333600-182338200	Weak transcription	NHDF-Ad	bronchial
23	chr2:182334600-182339800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr2:182334600-182381400	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:182334800-182336400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr2:182335000-182336600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:182335000-182336600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:182335000-182336800	Genic enhancers	Primary T cells fromperipheralblood	blood
29	chr2:182335000-182336800	Genic enhancers	Thymus	Thymus
30	chr2:182335000-182337600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr2:182335000-182338200	Genic enhancers	Primary T cells from cord blood	blood
32	chr2:182335000-182338200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr2:182335000-182338200	Genic enhancers	Fetal Thymus	thymus
34	chr2:182335000-182338400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:182335000-182338600	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr2:182335000-182338600	Genic enhancers	Primary hematopoietic stem cells	blood
37	chr2:182335000-182339000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr2:182335000-182339400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:182335000-182366800	Weak transcription	Fetal Stomach	stomach
40	chr2:182335000-182405800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr2:182335200-182356200	Weak transcription	Gastric	stomach
42	chr2:182335400-182338600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:182335400-182340000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr2:182335600-182336400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:182335600-182336400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:182335600-182336400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:182335600-182339200	Genic enhancers	Dnd41	blood
48	chr2:182336000-182336200	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr2:182336000-182336200	Flanking Active TSS	GM12878-XiMat	blood
50	chr2:182336000-182336600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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