Variant report

Variant	rs2181623
Chromosome Location	chr10:6391491-6391492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10752291	0.96[EUR][1000 genomes]
rs10796035	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10796038	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10796040	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10796045	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11258264	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12218210	0.81[ASN][1000 genomes]
rs1570527	0.93[EUR][1000 genomes]
rs2146900	0.93[EUR][1000 genomes]
rs2181622	0.88[AFR][1000 genomes]
rs2387397	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4558075	0.96[EUR][1000 genomes]
rs4589176	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4750316	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7090696	0.83[EUR][1000 genomes]
rs947474	0.89[EUR][1000 genomes];0.98[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6357200-6397400	Weak transcription	Pancreas	Pancrea
2	chr10:6388800-6391600	Enhancers	Fetal Brain Male	brain
3	chr10:6389000-6392600	Enhancers	Primary hematopoietic stem cells	blood
4	chr10:6390000-6392000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr10:6390000-6392200	Weak transcription	Psoas Muscle	Psoas
6	chr10:6390000-6393600	Weak transcription	Lung	lung
7	chr10:6390200-6391600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr10:6390200-6392200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr10:6390200-6396400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:6390600-6391800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:6390600-6392200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr10:6390600-6392400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:6390600-6393600	Weak transcription	A549	lung
14	chr10:6390600-6396600	Weak transcription	Aorta	Aorta
15	chr10:6390600-6397200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr10:6390800-6391800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr10:6390800-6392600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr10:6390800-6393000	Enhancers	Primary B cells from cord blood	blood
19	chr10:6390800-6393000	Enhancers	Primary B cells from peripheral blood	blood
20	chr10:6390800-6393200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr10:6391000-6391800	Weak transcription	Primary T cells from cord blood	blood
22	chr10:6391000-6392000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr10:6391000-6392200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr10:6391000-6393200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr10:6391000-6393400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr10:6391200-6392800	Enhancers	Dnd41	blood
27	chr10:6391200-6393200	Enhancers	GM12878-XiMat	blood
28	chr10:6391200-6396200	Weak transcription	Fetal Brain Female	brain
29	chr10:6391400-6392400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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