Variant report

Variant	rs4761804
Chromosome Location	chr12:51650918-51650919
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	chr12:51640213..51641815-chr12:51650624..51652609,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12322924	0.89[EUR][1000 genomes]
rs12424285	0.84[EUR][1000 genomes]
rs7136290	0.84[EUR][1000 genomes]
rs7316433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7316812	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7484634	0.93[EUR][1000 genomes]
rs7957667	0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51636200-51657000	Weak transcription	Small Intestine	intestine
2	chr12:51638400-51653000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:51638400-51662800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:51639800-51656800	Weak transcription	HSMMtube	muscle
5	chr12:51639800-51662800	Weak transcription	Fetal Stomach	stomach
6	chr12:51640000-51656400	Weak transcription	A549	lung
7	chr12:51640200-51656400	Weak transcription	Hela-S3	cervix
8	chr12:51640200-51662800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:51640200-51662800	Weak transcription	Pancreas	Pancrea
10	chr12:51640400-51651000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:51640400-51659000	Weak transcription	HMEC	breast
12	chr12:51640400-51661600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:51640600-51656600	Weak transcription	NHDF-Ad	bronchial
14	chr12:51640600-51661800	Weak transcription	NH-A	brain
15	chr12:51641000-51656600	Weak transcription	Osteobl	bone
16	chr12:51641600-51651000	Weak transcription	Fetal Intestine Large	intestine
17	chr12:51641600-51663000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:51641800-51656400	Weak transcription	Stomach Mucosa	stomach
19	chr12:51641800-51656400	Weak transcription	HUVEC	blood vessel
20	chr12:51642000-51651000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:51642000-51662800	Weak transcription	NHLF	lung
22	chr12:51642200-51661000	Weak transcription	Colonic Mucosa	Colon
23	chr12:51642200-51662800	Weak transcription	Gastric	stomach
24	chr12:51642200-51662800	Weak transcription	Right Ventricle	heart
25	chr12:51642200-51663000	Weak transcription	Lung	lung
26	chr12:51642400-51659400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:51642400-51662800	Weak transcription	Primary B cells from cord blood	blood
28	chr12:51642600-51651000	Weak transcription	Primary T cells from cord blood	blood
29	chr12:51642600-51658000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:51642600-51659200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr12:51642600-51659800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr12:51642600-51662600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr12:51642800-51658800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:51643000-51662600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr12:51643200-51656600	Weak transcription	Spleen	Spleen
36	chr12:51643200-51662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:51644600-51651000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:51644800-51655200	Weak transcription	K562	blood
39	chr12:51644800-51659200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:51645000-51656600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:51645000-51656600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:51645000-51658800	Weak transcription	Dnd41	blood
43	chr12:51645200-51661800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:51647000-51651000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:51647600-51656600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:51647600-51657000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:51647800-51659200	Weak transcription	Placenta	Placenta
48	chr12:51648000-51656600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:51648200-51652600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:51648400-51652200	Strong transcription	Fetal Intestine Small	intestine

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