Variant report

Variant	rs215380
Chromosome Location	chr12:47756291-47756292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46776942..46778519-chr12:47754254..47756489,2	K562	blood:
2	chr12:47747878..47750575-chr12:47752854..47757674,4	MCF-7	breast:
3	chr12:47753767..47756781-chr12:47759547..47762468,3	K562	blood:
4	chr12:47753699..47756781-chr12:47760392..47762468,4	K562	blood:
5	chr12:47608234..47610845-chr12:47753711..47756598,2	K562	blood:

Variant related genes	Relation type
ENSG00000257261	Chromatin interaction
ENSG00000247774	Chromatin interaction
ENSG00000179715	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2040643	0.80[EUR][1000 genomes]
rs215365	0.81[ASN][1000 genomes]
rs215367	0.81[ASN][1000 genomes]
rs215369	0.81[ASN][1000 genomes]
rs215378	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs215379	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs215381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215384	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215386	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs215397	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58616	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[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	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 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	chr12:47753600-47756800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr12:47753800-47756800	Enhancers	Fetal Thymus	thymus
3	chr12:47754000-47756400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:47754400-47756400	Enhancers	A549	lung
5	chr12:47754400-47756600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:47755000-47756400	Enhancers	HUVEC	blood vessel
7	chr12:47755200-47756400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:47755200-47756800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr12:47755400-47756400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:47755400-47756400	Enhancers	NHEK	skin
11	chr12:47755400-47756600	Enhancers	Fetal Intestine Large	intestine
12	chr12:47755400-47757400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:47755400-47758000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:47755400-47758200	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:47755400-47758600	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:47755400-47758600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:47755400-47759600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:47755400-47761600	Weak transcription	Spleen	Spleen
19	chr12:47755600-47756600	Enhancers	K562	blood
20	chr12:47755600-47758000	Enhancers	Primary B cells from cord blood	blood
21	chr12:47755600-47758600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:47755600-47760000	Weak transcription	Adipose Nuclei	Adipose
23	chr12:47755600-47760800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr12:47755600-47762200	Weak transcription	Thymus	Thymus
25	chr12:47755800-47759000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr12:47755800-47763000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:47756000-47756400	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr12:47756000-47756400	Flanking Active TSS	Dnd41	blood
29	chr12:47756000-47756600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:47756000-47756600	Enhancers	Small Intestine	intestine
31	chr12:47756000-47756800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr12:47756200-47756400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:47756200-47756400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr12:47756200-47756400	Enhancers	Fetal Kidney	kidney
35	chr12:47756200-47756600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:47756200-47756600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:47756200-47756600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:47756200-47756600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr12:47756200-47756600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:47756200-47771000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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