Variant report

Variant	rs215377
Chromosome Location	chr12:47752171-47752172
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11183911	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11183912	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12371209	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1642941	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs215348	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs215350	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs215351	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs215352	0.81[AMR][1000 genomes]
rs215354	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs215358	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs215360	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs215362	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs215363	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs215366	0.81[EUR][1000 genomes]
rs215368	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs215370	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs215371	0.86[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs215376	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs215382	0.81[EUR][1000 genomes]
rs215385	0.86[CEU][hapmap]
rs215395	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61927895	0.85[EUR][1000 genomes]
rs61927896	0.85[EUR][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:30 , 50 per page) page: 1

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

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