Variant report

Variant	rs215376
Chromosome Location	chr12:47750875-47750876
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11183910	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183915	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183918	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183921	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183922	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183923	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183924	0.92[ASN][1000 genomes]
rs11183927	0.92[ASN][1000 genomes]
rs215343	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs215348	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs215350	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs215351	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs215352	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215353	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215354	0.83[AMR][1000 genomes]
rs215358	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs215360	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs215362	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs215363	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215366	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215368	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215370	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215371	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs215377	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs215382	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215383	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215385	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215387	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs215390	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215393	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215394	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215396	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61927860	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61927894	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61929787	0.82[AMR][1000 genomes];0.86[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47744600-47753800	Weak transcription	Fetal Thymus	thymus
2	chr12:47748000-47752000	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:47748800-47751600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr12:47749000-47751000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:47749200-47751000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:47749200-47751200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:47749200-47751200	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:47749200-47752400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:47749200-47752400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:47749600-47751000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:47749600-47751200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr12:47750000-47751000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr12:47750000-47751000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:47750200-47751000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:47750200-47751800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:47750200-47754000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:47750400-47751800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:47750400-47752200	Enhancers	Primary B cells from cord blood	blood
19	chr12:47750400-47754000	Weak transcription	K562	blood
20	chr12:47750400-47754400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:47750600-47753000	Weak transcription	Primary T cells from cord blood	blood
22	chr12:47750600-47753000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:47750600-47753000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:47750600-47753800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:47750600-47754600	Weak transcription	Spleen	Spleen
26	chr12:47750800-47751200	Enhancers	Placenta	Placenta
27	chr12:47750800-47752600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr12:47750800-47753400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:47750800-47753600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr12:47750800-47753600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:47750800-47753600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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