Variant report

Variant	rs12416248
Chromosome Location	chr10:6391031-6391032
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:6389208-6391113	Raji	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000212743	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10796055	0.86[CHB][hapmap]
rs11258303	0.86[CHB][hapmap]
rs2181622	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs725206	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs744253	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs744254	0.90[CHB][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv894836	chr10:6246678-6435374	Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv430123	chr10:6309402-6448384	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv430125	chr10:6322167-6477267	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1053440	chr10:6354798-6669469	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv5676	chr10:6381200-6428950	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr10:6357200-6397400	Weak transcription	Pancreas	Pancrea
2	chr10:6388200-6391200	Flanking Active TSS	Dnd41	blood
3	chr10:6388800-6391600	Enhancers	Fetal Brain Male	brain
4	chr10:6389000-6391200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr10:6389000-6392600	Enhancers	Primary hematopoietic stem cells	blood
6	chr10:6389200-6391200	Enhancers	Fetal Brain Female	brain
7	chr10:6389400-6391200	Flanking Active TSS	GM12878-XiMat	blood
8	chr10:6389600-6391200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:6390000-6391200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr10:6390000-6392000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr10:6390000-6392200	Weak transcription	Psoas Muscle	Psoas
12	chr10:6390000-6393600	Weak transcription	Lung	lung
13	chr10:6390200-6391400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr10:6390200-6391600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr10:6390200-6392200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr10:6390200-6396400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:6390600-6391800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:6390600-6392200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr10:6390600-6392400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:6390600-6393600	Weak transcription	A549	lung
21	chr10:6390600-6396600	Weak transcription	Aorta	Aorta
22	chr10:6390600-6397200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr10:6390800-6391200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr10:6390800-6391200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr10:6390800-6391800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:6390800-6392600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr10:6390800-6393000	Enhancers	Primary B cells from cord blood	blood
28	chr10:6390800-6393000	Enhancers	Primary B cells from peripheral blood	blood
29	chr10:6390800-6393200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr10:6391000-6391800	Weak transcription	Primary T cells from cord blood	blood
31	chr10:6391000-6392000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr10:6391000-6392200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr10:6391000-6393200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr10:6391000-6393400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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