Variant report

Variant	rs62281674
Chromosome Location	chr3:99977422-99977423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:99973186..99975181-chr3:99976513..99979207,3	K562	blood:
2	chr3:99723727..99725718-chr3:99976911..99979235,2	K562	blood:
3	chr3:99971442..99977426-chr3:99977772..99982553,8	MCF-7	breast:
4	chr3:99974835..99977676-chr3:100052303..100055041,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114021	Chromatin interaction
ENSG00000036054	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12493320	1.00[ASN][1000 genomes]
rs17279479	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34748137	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4928120	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4928152	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1003924	chr3:99933762-100112690	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99964600-99978600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:99964800-99979000	Weak transcription	Aorta	Aorta
3	chr3:99965200-99978800	Weak transcription	NH-A	brain
4	chr3:99965600-99978800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:99966600-99979000	Weak transcription	Gastric	stomach
6	chr3:99968000-99978800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:99973000-99978800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:99973400-99978400	Weak transcription	Fetal Stomach	stomach
9	chr3:99973400-99978800	Weak transcription	Brain Substantia Nigra	brain
10	chr3:99973400-99978800	Weak transcription	Fetal Intestine Large	intestine
11	chr3:99973400-99979000	Weak transcription	Fetal Intestine Small	intestine
12	chr3:99973400-99979000	Weak transcription	Left Ventricle	heart
13	chr3:99973400-99979000	Weak transcription	HSMM	muscle
14	chr3:99973600-99978200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:99973600-99978800	Weak transcription	HSMMtube	muscle
16	chr3:99973800-99978800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:99974000-99978400	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:99975600-99978600	Weak transcription	Fetal Lung	lung
19	chr3:99976000-99977600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:99976400-99978800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:99976800-99978000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:99976800-99978400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:99976800-99978400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr3:99976800-99978600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:99976800-99978800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr3:99976800-99978800	Weak transcription	Right Atrium	heart
27	chr3:99976800-99979000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:99976800-99979000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:99976800-99979000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:99976800-99979000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr3:99976800-99979000	Weak transcription	Lung	lung
32	chr3:99976800-99979000	Weak transcription	Ovary	ovary
33	chr3:99976800-99979000	Weak transcription	Pancreas	Pancrea
34	chr3:99976800-99979000	Weak transcription	Small Intestine	intestine
35	chr3:99976800-99979000	Weak transcription	NHLF	lung
36	chr3:99976800-99979200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:99977000-99978000	Weak transcription	HepG2	liver
38	chr3:99977000-99978000	Weak transcription	K562	blood
39	chr3:99977000-99978400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr3:99977000-99978400	Weak transcription	Adipose Nuclei	Adipose
41	chr3:99977000-99978400	Weak transcription	Brain Angular Gyrus	brain
42	chr3:99977000-99978600	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:99977000-99979000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:99977000-99979000	Enhancers	NHDF-Ad	bronchial
45	chr3:99977200-99977600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:99977200-99978200	Weak transcription	Osteobl	bone
47	chr3:99977200-99978400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:99977200-99979000	Weak transcription	Esophagus	oesophagus

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