Variant report

Variant	rs67452583
Chromosome Location	chr3:136044493-136044494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136043746..136046467-chr3:136047031..136048993,2	K562	blood:
2	chr3:135969229..135971622-chr3:136043754..136046522,2	K562	blood:

Variant related genes	Relation type
ENSG00000114054	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10513002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13067714	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16843879	0.90[EUR][1000 genomes]
rs16843978	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17199880	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17199978	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17265675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17266364	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3913715	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4125861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56057807	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56095774	0.81[EUR][1000 genomes]
rs56264828	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56336182	0.90[EUR][1000 genomes]
rs60270684	0.87[AMR][1000 genomes]
rs66494666	0.87[AMR][1000 genomes]
rs66637842	1.00[ASN][1000 genomes]
rs67230667	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67281610	0.87[AMR][1000 genomes]
rs67303976	0.87[AMR][1000 genomes]
rs67389407	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67525027	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67677899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67692166	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6769582	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773604	1.00[ASN][1000 genomes]
rs67963055	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67971203	0.85[EUR][1000 genomes]
rs6808143	0.89[EUR][1000 genomes]
rs72985474	0.82[AFR][1000 genomes]
rs73224201	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7625592	0.85[EUR][1000 genomes]
rs7650075	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7652176	0.93[EUR][1000 genomes];1.00[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	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv948461	chr3:135969755-136349636	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv4025	chr3:136017458-136065622	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv877519	chr3:136035737-136279390	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135981200-136052000	Weak transcription	NH-A	brain
2	chr3:135999800-136061200	Weak transcription	Hela-S3	cervix
3	chr3:136016800-136045600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:136018200-136051400	Weak transcription	A549	lung
5	chr3:136020200-136045200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:136020400-136045200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:136020400-136045200	Weak transcription	Colonic Mucosa	Colon
8	chr3:136020600-136045000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:136020600-136045200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:136020800-136045000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:136021000-136045400	Weak transcription	Gastric	stomach
12	chr3:136021000-136045600	Weak transcription	Osteobl	bone
13	chr3:136032800-136055400	Weak transcription	HUVEC	blood vessel
14	chr3:136037000-136045200	Weak transcription	Brain Angular Gyrus	brain
15	chr3:136037200-136045200	Weak transcription	Fetal Stomach	stomach
16	chr3:136037600-136045200	Weak transcription	K562	blood
17	chr3:136037600-136045400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:136039000-136072400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:136039200-136062400	Weak transcription	Fetal Heart	heart
20	chr3:136040200-136045000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:136040200-136046800	Weak transcription	NHEK	skin
22	chr3:136040200-136051200	Weak transcription	NHDF-Ad	bronchial
23	chr3:136040400-136045200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:136040400-136046400	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:136040400-136062800	Weak transcription	Stomach Mucosa	stomach
26	chr3:136040600-136045000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:136040600-136045200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:136040600-136045200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:136040600-136045200	Weak transcription	Aorta	Aorta
30	chr3:136040600-136045200	Weak transcription	Esophagus	oesophagus
31	chr3:136040600-136045200	Weak transcription	Lung	lung
32	chr3:136040600-136045200	Weak transcription	Ovary	ovary
33	chr3:136040600-136045200	Weak transcription	Pancreas	Pancrea
34	chr3:136040600-136045200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr3:136040600-136045200	Weak transcription	Spleen	Spleen
36	chr3:136040600-136045400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:136040600-136045800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:136040600-136047800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:136040600-136061400	Weak transcription	Small Intestine	intestine
40	chr3:136040800-136045200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr3:136040800-136045400	Weak transcription	Thymus	Thymus
42	chr3:136040800-136045800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:136041000-136045400	Weak transcription	Right Ventricle	heart
44	chr3:136041000-136052800	Weak transcription	Fetal Kidney	kidney
45	chr3:136041200-136045000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr3:136041200-136045400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr3:136041600-136045200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:136041800-136045000	Weak transcription	Brain Hippocampus Middle	brain
49	chr3:136042000-136045600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr3:136042000-136048800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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