Variant report

Variant	rs12775595
Chromosome Location	chr10:6500079-6500080
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:21)

rs_ID	r²[population]
rs10508307	0.99[ASN][1000 genomes]
rs10508308	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11258612	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11258967	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12770464	0.89[EUR][1000 genomes]
rs12780187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155850	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17155855	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34316142	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3793724	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3793725	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3793726	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs646613	0.83[EUR][1000 genomes]
rs686333	0.87[EUR][1000 genomes]
rs688853	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7893745	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7898408	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7910745	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7911478	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7918923	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs961203	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	nsv1047309	chr10:6495583-6714060	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6465800-6501400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr10:6477400-6503600	Weak transcription	Gastric	stomach
3	chr10:6480200-6501000	Weak transcription	Ovary	ovary
4	chr10:6481200-6500200	Weak transcription	Fetal Intestine Small	intestine
5	chr10:6488200-6500200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr10:6488200-6502000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:6488400-6500200	Weak transcription	Esophagus	oesophagus
8	chr10:6488400-6506800	Weak transcription	K562	blood
9	chr10:6493400-6516200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr10:6493600-6501200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr10:6496000-6500200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:6496000-6502800	Strong transcription	Dnd41	blood
13	chr10:6496000-6508200	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr10:6496200-6500400	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr10:6496200-6500600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr10:6496200-6500800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr10:6496200-6501000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr10:6496200-6501600	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr10:6496200-6501600	Strong transcription	Fetal Muscle Leg	muscle
20	chr10:6496200-6502000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr10:6496200-6502800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr10:6496200-6506200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr10:6496200-6508200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr10:6496200-6509000	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr10:6496200-6511600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
26	chr10:6496200-6513000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr10:6496200-6514000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr10:6496200-6514200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr10:6496200-6514600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr10:6496400-6502000	Strong transcription	Brain Hippocampus Middle	brain
31	chr10:6496600-6506400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr10:6496600-6539200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr10:6496800-6503000	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr10:6497200-6500200	Weak transcription	Aorta	Aorta
35	chr10:6497400-6500200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr10:6497400-6501000	Weak transcription	NHEK	skin
37	chr10:6497600-6501600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr10:6497600-6513200	Strong transcription	Primary T cells from cord blood	blood
39	chr10:6497800-6502200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr10:6497800-6502800	Weak transcription	Fetal Kidney	kidney
41	chr10:6498400-6501600	Weak transcription	Psoas Muscle	Psoas
42	chr10:6498400-6537000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr10:6498600-6500200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:6498600-6500200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr10:6498600-6506000	Strong transcription	Primary hematopoietic stem cells	blood
46	chr10:6498600-6508800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr10:6498600-6510000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr10:6498600-6512000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr10:6498600-6518800	Weak transcription	Fetal Stomach	stomach
50	chr10:6498800-6500400	Weak transcription	Brain Substantia Nigra	brain

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