Variant report

Variant	rs12475234
Chromosome Location	chr2:74062219-74062220
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	chr2:74061339..74063071-chr2:74345981..74348669,2	K562	blood:
2	chr2:74054830..74059575-chr2:74061588..74066831,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257800	Chromatin interaction
ENSG00000124356	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12476993	1.00[AFR][1000 genomes]
rs1806776	1.00[AFR][1000 genomes]
rs34737250	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS 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	36 gene(s)	inside rSNPs	diseases
3	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74057000-74063400	Weak transcription	Right Atrium	heart
2	chr2:74057000-74069400	Weak transcription	Colonic Mucosa	Colon
3	chr2:74057000-74076200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:74057000-74093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:74057400-74063400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:74057600-74071400	Weak transcription	Fetal Kidney	kidney
7	chr2:74057800-74063600	Weak transcription	Fetal Brain Female	brain
8	chr2:74058000-74062400	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr2:74058000-74062400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:74058000-74064200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:74058000-74064200	Strong transcription	Fetal Intestine Large	intestine
12	chr2:74058000-74064200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr2:74058000-74064200	Strong transcription	Placenta	Placenta
14	chr2:74058000-74064400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:74058000-74065400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:74058000-74069600	Strong transcription	Primary T cells from cord blood	blood
17	chr2:74058000-74070000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:74058000-74071200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:74058200-74064000	Strong transcription	Duodenum Mucosa	Duodenum
20	chr2:74058200-74064000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:74058200-74064600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:74058200-74067600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:74058400-74063200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr2:74058400-74064400	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:74058400-74065200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:74058600-74062800	Strong transcription	Primary B cells from cord blood	blood
27	chr2:74058600-74064200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:74058600-74071400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:74058800-74063400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:74058800-74065000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:74058800-74067400	Strong transcription	Liver	Liver
32	chr2:74059000-74065600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:74059400-74063200	Strong transcription	Fetal Stomach	stomach
34	chr2:74059400-74063800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr2:74059400-74064000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:74059400-74064200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:74059400-74064200	Strong transcription	Fetal Intestine Small	intestine
38	chr2:74059600-74063000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:74059600-74064000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:74059600-74064000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:74059600-74064200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:74059600-74064200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:74059800-74064200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:74060000-74063400	Weak transcription	Gastric	stomach
45	chr2:74060000-74063800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr2:74060000-74071400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:74060000-74072000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:74060200-74063000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:74060200-74063000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:74060200-74063000	Strong transcription	HepG2	liver

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