Variant report

Variant	rs215383
Chromosome Location	chr12:47758032-47758033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11183910	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183911	0.86[AMR][1000 genomes]
rs11183912	0.86[AMR][1000 genomes]
rs11183915	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183918	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183921	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183922	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183923	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183924	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11183927	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12371209	0.86[AMR][1000 genomes]
rs1642941	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs215343	0.93[CEU][hapmap];0.92[ASN][1000 genomes]
rs215348	0.81[CEU][hapmap]
rs215352	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215353	1.00[ASN][1000 genomes]
rs215360	0.81[CEU][hapmap]
rs215362	0.81[CEU][hapmap]
rs215363	0.93[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215366	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215368	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215370	0.91[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215376	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215382	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215385	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215387	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs215390	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215393	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215394	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215395	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs215396	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61927860	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61927894	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61929787	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47755400-47758200	Enhancers	Primary hematopoietic stem cells	blood
2	chr12:47755400-47758600	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:47755400-47758600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:47755400-47759600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:47755400-47761600	Weak transcription	Spleen	Spleen
6	chr12:47755600-47758600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:47755600-47760000	Weak transcription	Adipose Nuclei	Adipose
8	chr12:47755600-47760800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:47755600-47762200	Weak transcription	Thymus	Thymus
10	chr12:47755800-47759000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:47755800-47763000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:47756200-47771000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:47756400-47758600	Enhancers	Dnd41	blood
14	chr12:47756400-47759400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:47756600-47758600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:47756600-47759400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:47756600-47759400	Weak transcription	K562	blood
18	chr12:47756600-47759800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:47756600-47760000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:47756600-47761200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:47756800-47760200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr12:47756800-47762200	Weak transcription	Fetal Thymus	thymus
23	chr12:47756800-47763200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:47756800-47763200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr12:47757400-47758400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr12:47757400-47758600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr12:47757800-47758400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr12:47757800-47759000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr12:47758000-47758200	Enhancers	Fetal Kidney	kidney
30	chr12:47758000-47758200	Enhancers	A549	lung
31	chr12:47758000-47759200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:47758000-47759400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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