Variant report

Variant	rs71307941
Chromosome Location	chr3:143257547-143257548
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	chr3:143256524..143258792-chr3:143259054..143261566,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13061398	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13064748	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13068070	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13069703	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13071089	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13076949	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13085205	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13090915	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1405017	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1525858	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1525862	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1525863	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16853857	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17640925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1983467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2289451	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35417581	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35593863	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4839601	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4839602	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4839642	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71307942	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs746055	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7642430	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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:43 , 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	chr3:143255000-143258400	Enhancers	Colon Smooth Muscle	Colon
9	chr3:143255000-143258400	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr3:143255000-143258400	Enhancers	Fetal Stomach	stomach
11	chr3:143255200-143257600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr3:143255200-143257600	Weak transcription	Fetal Kidney	kidney
13	chr3:143255400-143258000	Enhancers	HSMM	muscle
14	chr3:143255600-143258400	Enhancers	Adipose Nuclei	Adipose
15	chr3:143255600-143276800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr3:143255800-143267200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr3:143255800-143271800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr3:143256000-143258200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr3:143256000-143258200	Enhancers	GM12878-XiMat	blood
20	chr3:143256000-143258400	Enhancers	Osteobl	bone
21	chr3:143256000-143305600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:143256200-143268000	Weak transcription	Brain Substantia Nigra	brain
23	chr3:143256400-143258600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:143256400-143266800	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:143256400-143270000	Weak transcription	Spleen	Spleen
26	chr3:143256600-143264400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr3:143256600-143275000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr3:143256800-143258400	Enhancers	Fetal Lung	lung
29	chr3:143256800-143269400	Weak transcription	Fetal Muscle Leg	muscle
30	chr3:143256800-143269800	Weak transcription	Esophagus	oesophagus
31	chr3:143256800-143277000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:143257000-143258200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:143257200-143257600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:143257200-143258200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:143257200-143258400	Enhancers	HSMMtube	muscle
36	chr3:143257200-143277800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr3:143257400-143257600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:143257400-143257600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:143257400-143257600	Enhancers	Colonic Mucosa	Colon
40	chr3:143257400-143257600	Enhancers	Ovary	ovary
41	chr3:143257400-143257600	Enhancers	Small Intestine	intestine
42	chr3:143257400-143257600	Enhancers	HMEC	breast
43	chr3:143257400-143258000	Flanking Active TSS	NHDF-Ad	bronchial

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