Variant report

Variant	rs12756676
Chromosome Location	chr1:211807422-211807423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211807063..211809288-chr1:211816053..211818328,2	K562	blood:
2	chr1:211751483..211753774-chr1:211805908..211807801,3	MCF-7	breast:
3	chr1:211805499..211810389-chr1:211816053..211819078,4	K562	blood:
4	chr1:211794683..211796296-chr1:211806280..211809015,2	MCF-7	breast:
5	chr1:211805954..211807830-chr1:211810555..211812059,2	K562	blood:

Variant related genes	Relation type
ENSG00000228792	Chromatin interaction
ENSG00000170385	Chromatin interaction

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

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

rs_ID	r²[population]
rs10157989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158618	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158723	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158740	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577181	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590554	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239534	0.95[ASN][1000 genomes]
rs12711504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711505	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711506	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12730869	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749444	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12751564	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12755496	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17017855	1.00[ASN][1000 genomes]
rs34028707	0.95[ASN][1000 genomes]
rs4345851	0.81[ASN][1000 genomes]
rs4399227	0.81[ASN][1000 genomes]
rs4562684	0.81[ASN][1000 genomes]
rs4951414	0.85[ASN][1000 genomes]
rs4951417	0.90[ASN][1000 genomes]
rs4951420	0.86[ASN][1000 genomes]
rs6540692	0.81[ASN][1000 genomes]
rs7529914	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765202	0.81[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	nsv1010919	chr1:211804252-211823073	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211803400-211807600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:211803400-211807600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:211803800-211807600	Enhancers	Fetal Thymus	thymus
4	chr1:211804200-211807600	Enhancers	Left Ventricle	heart
5	chr1:211804200-211813400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:211804200-211816600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:211804400-211809400	Enhancers	Hela-S3	cervix
8	chr1:211805400-211808200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:211805400-211808200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:211805600-211807800	Enhancers	HMEC	breast
11	chr1:211805800-211807600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:211805800-211807600	Enhancers	Pancreas	Pancrea
13	chr1:211805800-211807600	Enhancers	HSMMtube	muscle
14	chr1:211805800-211808200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:211806200-211807600	Enhancers	Liver	Liver
16	chr1:211806400-211807800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:211806800-211809200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:211806800-211809600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:211806800-211809600	Weak transcription	Fetal Intestine Small	intestine
20	chr1:211806800-211811600	Weak transcription	Fetal Intestine Large	intestine
21	chr1:211806800-211813000	Weak transcription	Stomach Mucosa	stomach
22	chr1:211807000-211809600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:211807000-211810600	Weak transcription	Placenta	Placenta
24	chr1:211807000-211811600	Weak transcription	Esophagus	oesophagus
25	chr1:211807000-211812000	Weak transcription	Adipose Nuclei	Adipose
26	chr1:211807000-211816200	Weak transcription	Colonic Mucosa	Colon
27	chr1:211807000-211816200	Weak transcription	Ovary	ovary
28	chr1:211807200-211807800	Enhancers	K562	blood
29	chr1:211807200-211808000	Enhancers	HepG2	liver
30	chr1:211807200-211809400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:211807200-211809400	Weak transcription	HSMM	muscle
32	chr1:211807200-211809600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:211807200-211809800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:211807200-211812000	Weak transcription	NHLF	lung
35	chr1:211807200-211816600	Weak transcription	Right Ventricle	heart
36	chr1:211807200-211817200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:211807400-211808600	Weak transcription	Osteobl	bone
38	chr1:211807400-211809400	Weak transcription	A549	lung
39	chr1:211807400-211810000	Weak transcription	Spleen	Spleen
40	chr1:211807400-211812200	Weak transcription	NH-A	brain
41	chr1:211807400-211816800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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