Variant report

Variant	rs12080379
Chromosome Location	chr1:215765548-215765549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:215739185..215741225-chr1:215765523..215767047,2	K562	blood:
2	chr1:215758283..215760465-chr1:215763680..215766627,2	MCF-7	breast:
3	chr1:215764142..215765932-chr1:215773289..215774956,2	K562	blood:

Variant related genes	Relation type
ENSG00000136636	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12058673	1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs12077184	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12080437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2797393	0.81[YRI][hapmap]
rs56284908	0.85[EUR][1000 genomes]
rs6667509	0.90[CEU][hapmap];0.81[EUR][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	esv1796390	chr1:215561548-215799074	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215741800-215786200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:215741800-215809800	Weak transcription	Colonic Mucosa	Colon
3	chr1:215742000-215786400	Weak transcription	Thymus	Thymus
4	chr1:215742200-215767600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:215742200-215786400	Weak transcription	Primary T cells from cord blood	blood
6	chr1:215743000-215772400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:215743200-215785800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:215744200-215767400	Weak transcription	Fetal Brain Male	brain
9	chr1:215744400-215767600	Weak transcription	NHLF	lung
10	chr1:215746600-215768000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:215750000-215767600	Weak transcription	Right Ventricle	heart
12	chr1:215750000-215772800	Weak transcription	Psoas Muscle	Psoas
13	chr1:215750000-215778600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:215750000-215786200	Weak transcription	Small Intestine	intestine
15	chr1:215750000-215805000	Weak transcription	Lung	lung
16	chr1:215750200-215766200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:215750200-215785800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:215750200-215786200	Weak transcription	Pancreas	Pancrea
19	chr1:215750200-215790400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:215750200-215795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:215750200-215796000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:215750200-215804400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:215750200-215809200	Weak transcription	Gastric	stomach
24	chr1:215751800-215768600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:215752800-215781400	Weak transcription	Hela-S3	cervix
26	chr1:215753000-215767600	Weak transcription	HSMMtube	muscle
27	chr1:215753200-215792200	Weak transcription	Aorta	Aorta
28	chr1:215753400-215772600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:215753400-215778600	Weak transcription	Fetal Thymus	thymus
30	chr1:215754000-215767600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:215754000-215767600	Weak transcription	HSMM	muscle
32	chr1:215755400-215767600	Weak transcription	Brain Anterior Caudate	brain
33	chr1:215755400-215768800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:215755800-215767600	Weak transcription	Osteobl	bone
35	chr1:215755800-215776200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr1:215755800-215804800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr1:215756000-215770600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr1:215756200-215769200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:215757000-215769000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:215757000-215782600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:215757600-215765600	Weak transcription	Placenta	Placenta
42	chr1:215757600-215768200	Weak transcription	NHEK	skin
43	chr1:215757800-215765800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:215758000-215769000	Weak transcription	HMEC	breast
45	chr1:215758000-215773200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:215758200-215772400	Weak transcription	Primary B cells from cord blood	blood
47	chr1:215758200-215773000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:215758400-215770800	Weak transcription	GM12878-XiMat	blood
49	chr1:215758400-215772800	Weak transcription	Brain Germinal Matrix	brain
50	chr1:215758600-215773000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links