Variant report

Variant	rs2180976
Chromosome Location	chr1:93271332-93271333
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	chr1:93256428..93259014-chr1:93269209..93271869,2	K562	blood:

Variant related genes	Relation type
ENSG00000067208	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10782945	0.86[ASN][1000 genomes]
rs10874738	0.83[AMR][1000 genomes]
rs10874744	0.86[ASN][1000 genomes]
rs11164807	0.83[AMR][1000 genomes]
rs12021539	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1337107	0.83[AMR][1000 genomes]
rs1535372	0.82[EUR][1000 genomes]
rs4847301	0.83[AMR][1000 genomes]
rs4847306	0.83[AMR][1000 genomes]
rs6604013	0.81[AMR][1000 genomes]
rs6604014	0.83[AMR][1000 genomes]
rs7549341	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7551324	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv947289	chr1:93251307-93276080	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93268800-93272200	Enhancers	Placenta	Placenta
2	chr1:93269600-93271400	ZNF genes & repeats	Fetal Intestine Small	intestine
3	chr1:93269800-93271400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:93269800-93271400	Enhancers	Stomach Mucosa	stomach
5	chr1:93269800-93271800	Enhancers	Hela-S3	cervix
6	chr1:93269800-93271800	Enhancers	K562	blood
7	chr1:93269800-93271800	Enhancers	NHEK	skin
8	chr1:93269800-93272200	Enhancers	Osteobl	bone
9	chr1:93269800-93272400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:93270000-93271400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:93270000-93272200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:93270200-93271400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:93270600-93271800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:93270600-93272000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:93270800-93271400	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:93270800-93273800	Weak transcription	HSMM	muscle
17	chr1:93271000-93273600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:93271000-93273600	Weak transcription	NHLF	lung
19	chr1:93271000-93276000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:93271200-93271600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:93271200-93271600	Weak transcription	NHDF-Ad	bronchial
22	chr1:93271200-93273000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:93271200-93273400	Weak transcription	HMEC	breast
24	chr1:93271200-93273600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:93271200-93273600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:93271200-93273600	Weak transcription	HUVEC	blood vessel

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