Variant report

Variant	rs12471434
Chromosome Location	chr2:182365708-182365709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2305586	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4667308	0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182324400-182410400	Weak transcription	NHLF	lung
2	chr2:182330000-182390200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:182331400-182382200	Weak transcription	HMEC	breast
4	chr2:182334600-182381400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:182335000-182366800	Weak transcription	Fetal Stomach	stomach
6	chr2:182335000-182405800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:182336800-182382800	Weak transcription	Small Intestine	intestine
8	chr2:182338200-182378400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr2:182338200-182383400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:182338200-182399400	Weak transcription	Colonic Mucosa	Colon
11	chr2:182338200-182406800	Strong transcription	Fetal Thymus	thymus
12	chr2:182338200-182406800	Weak transcription	Spleen	Spleen
13	chr2:182338400-182382200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:182338600-182405600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:182339000-182381000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:182339200-182380600	Strong transcription	Dnd41	blood
17	chr2:182339400-182405600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:182344400-182367200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:182346000-182378600	Weak transcription	Lung	lung
20	chr2:182347200-182399800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:182348200-182377400	Weak transcription	NH-A	brain
22	chr2:182349600-182405800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:182350400-182384600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:182353800-182404200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:182355200-182383000	Strong transcription	GM12878-XiMat	blood
26	chr2:182356000-182406800	Strong transcription	Primary B cells from cord blood	blood
27	chr2:182356200-182379600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:182356400-182367400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:182357000-182377800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:182357200-182366800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:182357600-182370800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:182358200-182405800	Strong transcription	Primary hematopoietic stem cells	blood
33	chr2:182359600-182391800	Weak transcription	Adipose Nuclei	Adipose
34	chr2:182361000-182376600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:182361800-182398000	Weak transcription	Fetal Intestine Small	intestine
36	chr2:182362200-182375000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:182362400-182380400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:182362800-182366600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
39	chr2:182363000-182366600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:182363200-182367000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:182363400-182366000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:182363400-182366400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:182363400-182366400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr2:182363400-182366400	Strong transcription	NHDF-Ad	bronchial
45	chr2:182363400-182366600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:182363400-182367200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:182363400-182367400	Strong transcription	HSMMtube	muscle
48	chr2:182363400-182368200	Strong transcription	Thymus	Thymus
49	chr2:182363400-182370600	Strong transcription	Primary T cells from cord blood	blood
50	chr2:182363600-182366800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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