Variant report

Variant	rs215378
Chromosome Location	chr12:47753999-47754000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000247774	Chromatin interaction
ENSG00000179715	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs215365	0.81[ASN][1000 genomes]
rs215367	0.81[ASN][1000 genomes]
rs215369	0.81[ASN][1000 genomes]
rs215379	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs215380	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs215381	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs215384	0.95[CHB][hapmap];0.81[JPT][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs215386	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs215397	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58616	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47750200-47754000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr12:47750400-47754000	Weak transcription	K562	blood
3	chr12:47750400-47754400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:47750600-47754600	Weak transcription	Spleen	Spleen
5	chr12:47751200-47754600	Weak transcription	Placenta	Placenta
6	chr12:47752800-47754000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:47752800-47754200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr12:47753000-47754000	Enhancers	Primary T cells from cord blood	blood
9	chr12:47753000-47754200	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:47753000-47754200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:47753000-47754400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:47753000-47754400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:47753400-47754000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:47753400-47754200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:47753400-47754400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:47753400-47754400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr12:47753400-47754400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:47753400-47754400	Enhancers	Thymus	Thymus
19	chr12:47753400-47754400	Enhancers	Dnd41	blood
20	chr12:47753400-47754600	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:47753600-47754200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:47753600-47754400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr12:47753600-47754400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr12:47753600-47754600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr12:47753600-47755600	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr12:47753600-47756800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr12:47753800-47754000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:47753800-47754000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr12:47753800-47754200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr12:47753800-47754400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr12:47753800-47754400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:47753800-47754600	Enhancers	HUVEC	blood vessel
33	chr12:47753800-47755600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr12:47753800-47756800	Enhancers	Fetal Thymus	thymus

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