Variant report

Variant	rs2133465
Chromosome Location	chr4:129379348-129379349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129379169..129381936-chr4:129382179..129384098,2	MCF-7	breast:
2	chr4:129378615..129381365-chr4:129381368..129383406,2	K562	blood:
3	chr4:129379341..129381342-chr4:129730925..129733925,3	K562	blood:

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12499030	0.82[ASN][1000 genomes]
rs12511843	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs12648490	0.82[ASN][1000 genomes]
rs17013269	0.82[ASN][1000 genomes]
rs17337491	1.00[ASW][hapmap]
rs2062456	1.00[ASW][hapmap]
rs4305531	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.93[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4306967	0.82[CHB][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4362840	1.00[ASW][hapmap]
rs4975221	1.00[ASW][hapmap]
rs56212199	0.82[ASN][1000 genomes]
rs59296747	0.82[ASN][1000 genomes]
rs59363695	0.82[ASN][1000 genomes]
rs6534679	1.00[ASW][hapmap]
rs6840580	1.00[ASW][hapmap]
rs72677867	0.82[ASN][1000 genomes]
rs72677873	0.82[ASN][1000 genomes]
rs72677874	0.82[ASN][1000 genomes]
rs72677876	0.82[ASN][1000 genomes]
rs72677877	0.82[ASN][1000 genomes]
rs72677891	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72677893	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72677894	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72677896	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72677900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7441245	1.00[ASW][hapmap]
rs7691529	0.82[ASN][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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129374000-129379400	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr4:129375600-129381400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:129376000-129385000	Weak transcription	Brain Angular Gyrus	brain
4	chr4:129376600-129380200	Weak transcription	Hela-S3	cervix
5	chr4:129376600-129382200	Weak transcription	Fetal Intestine Small	intestine
6	chr4:129376600-129389600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:129376600-129393200	Weak transcription	Placenta	Placenta
8	chr4:129376600-129406200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:129376600-129435000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:129376800-129382000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:129377000-129380600	Enhancers	Fetal Brain Female	brain
12	chr4:129377000-129382000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:129377000-129382200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:129377000-129382200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:129377000-129382400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:129377000-129388800	Weak transcription	Right Atrium	heart
17	chr4:129377000-129389000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:129377000-129397000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:129377200-129381600	Weak transcription	HUVEC	blood vessel
20	chr4:129377600-129394400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:129377800-129381200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:129377800-129382400	Weak transcription	Ovary	ovary
23	chr4:129378000-129382400	Weak transcription	Brain Substantia Nigra	brain
24	chr4:129378200-129381600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:129378400-129382400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:129378400-129382400	Weak transcription	HSMMtube	muscle
27	chr4:129378400-129388200	Weak transcription	Aorta	Aorta
28	chr4:129378600-129379600	Enhancers	Psoas Muscle	Psoas
29	chr4:129378600-129381200	Enhancers	Fetal Brain Male	brain
30	chr4:129378800-129380000	Weak transcription	A549	lung
31	chr4:129378800-129381800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:129378800-129382000	Weak transcription	NHDF-Ad	bronchial
33	chr4:129378800-129382000	Weak transcription	Osteobl	bone
34	chr4:129378800-129382200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:129378800-129382200	Weak transcription	NHLF	lung
36	chr4:129378800-129382400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:129378800-129389400	Weak transcription	Brain Anterior Caudate	brain
38	chr4:129379000-129382000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:129379200-129379400	Enhancers	Left Ventricle	heart
40	chr4:129379200-129379400	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links