Variant report

Variant	rs2290376
Chromosome Location	chr2:173898719-173898720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173896303..173899464-chr2:173939472..173942045,3	MCF-7	breast:
2	chr2:173896984..173899063-chr2:173900402..173903376,3	MCF-7	breast:
3	chr2:173897143..173898817-chr2:173905886..173907454,2	K562	blood:
4	chr2:173889792..173891540-chr2:173896979..173899149,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction
ENSG00000091428	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12612593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12614386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12615974	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12618296	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12621472	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12621641	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13034647	1.00[AFR][1000 genomes]
rs16861180	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16861185	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16861187	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16861206	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34252442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35730673	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769218	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3769219	1.00[CHB][hapmap];0.90[GIH][hapmap];0.86[MEX][hapmap]
rs3769221	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3769223	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs41268707	1.00[AFR][1000 genomes]
rs4296399	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6735942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585995	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173868000-173902000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:173877200-173901600	Weak transcription	Gastric	stomach
3	chr2:173881200-173912800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:173888800-173905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:173888800-173906600	Weak transcription	Lung	lung
6	chr2:173891000-173908000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:173892600-173906800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:173892800-173901600	Weak transcription	Pancreas	Pancrea
9	chr2:173892800-173902400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:173893000-173900600	Weak transcription	Brain Angular Gyrus	brain
11	chr2:173893000-173908800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:173893000-173913200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:173893200-173901600	Weak transcription	Right Atrium	heart
14	chr2:173893200-173902400	Weak transcription	Aorta	Aorta
15	chr2:173893200-173902600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:173893200-173922000	Weak transcription	Brain Anterior Caudate	brain
17	chr2:173893800-173908200	Weak transcription	Right Ventricle	heart
18	chr2:173894000-173898800	Weak transcription	Psoas Muscle	Psoas
19	chr2:173894000-173901600	Weak transcription	Ovary	ovary
20	chr2:173894000-173902000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:173894000-173909200	Weak transcription	Fetal Stomach	stomach
22	chr2:173894400-173900600	Weak transcription	Fetal Intestine Small	intestine
23	chr2:173896400-173900600	Weak transcription	Fetal Heart	heart
24	chr2:173896800-173900600	Weak transcription	Liver	Liver
25	chr2:173896800-173901600	Weak transcription	Left Ventricle	heart
26	chr2:173897000-173908200	Weak transcription	HMEC	breast
27	chr2:173897200-173901600	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:173897200-173902000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:173897400-173899000	Enhancers	NHDF-Ad	bronchial
30	chr2:173897400-173902000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:173898200-173900000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:173898600-173899000	Enhancers	A549	lung
33	chr2:173898600-173899600	Enhancers	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links