Variant report

Variant	rs4271909
Chromosome Location	chr3:143256536-143256537
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143256524..143258792-chr3:143259054..143261566,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11922063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12633124	0.92[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs1525861	0.92[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs16853772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57077045	0.91[ASN][1000 genomes]
rs58563413	0.91[ASN][1000 genomes]
rs72999736	0.94[ASN][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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143248400-143261000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr3:143248400-143263800	Weak transcription	Primary T cells from cord blood	blood
3	chr3:143248400-143276800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr3:143250200-143269600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr3:143252200-143269400	Weak transcription	Placenta	Placenta
6	chr3:143254800-143257600	Enhancers	Dnd41	blood
7	chr3:143254800-143258400	Enhancers	NHLF	lung
8	chr3:143255000-143256800	Enhancers	Fetal Muscle Leg	muscle
9	chr3:143255000-143256800	Enhancers	Fetal Thymus	thymus
10	chr3:143255000-143257000	Enhancers	Ovary	ovary
11	chr3:143255000-143258400	Enhancers	Colon Smooth Muscle	Colon
12	chr3:143255000-143258400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr3:143255000-143258400	Enhancers	Fetal Stomach	stomach
14	chr3:143255200-143257400	Weak transcription	Colonic Mucosa	Colon
15	chr3:143255200-143257600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr3:143255200-143257600	Weak transcription	Fetal Kidney	kidney
17	chr3:143255400-143257400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:143255400-143258000	Enhancers	HSMM	muscle
19	chr3:143255600-143256600	Enhancers	Fetal Muscle Trunk	muscle
20	chr3:143255600-143256800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:143255600-143257200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:143255600-143257400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:143255600-143257400	Enhancers	NHDF-Ad	bronchial
24	chr3:143255600-143258400	Enhancers	Adipose Nuclei	Adipose
25	chr3:143255600-143276800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr3:143255800-143267200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr3:143255800-143271800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:143256000-143256600	Enhancers	Stomach Smooth Muscle	stomach
29	chr3:143256000-143256800	Weak transcription	Fetal Lung	lung
30	chr3:143256000-143257000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:143256000-143257200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:143256000-143258200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr3:143256000-143258200	Enhancers	GM12878-XiMat	blood
34	chr3:143256000-143258400	Enhancers	Osteobl	bone
35	chr3:143256000-143305600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr3:143256200-143256800	Enhancers	Esophagus	oesophagus
37	chr3:143256200-143257200	Enhancers	Rectal Smooth Muscle	rectum
38	chr3:143256200-143268000	Weak transcription	Brain Substantia Nigra	brain
39	chr3:143256400-143257200	Weak transcription	HSMMtube	muscle
40	chr3:143256400-143257400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:143256400-143257400	Weak transcription	Small Intestine	intestine
42	chr3:143256400-143257400	Weak transcription	HMEC	breast
43	chr3:143256400-143258600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:143256400-143266800	Weak transcription	Brain Hippocampus Middle	brain
45	chr3:143256400-143270000	Weak transcription	Spleen	Spleen

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