Variant report

Variant	rs10112330
Chromosome Location	chr8:59550571-59550572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59549409..59552023-chr8:59554891..59556606,2	K562	blood:
2	chr8:59544532..59547117-chr8:59548377..59551376,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10087843	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10088541	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10090212	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10090837	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10091952	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10113323	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10113830	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10957063	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11774998	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985566	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11994921	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12171670	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1352496	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1387222	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16923637	0.87[ASN][1000 genomes]
rs17206746	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17272151	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2130072	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2326129	0.83[EUR][1000 genomes]
rs28429099	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28489122	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28755983	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28886919	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4266636	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4598239	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60567264	0.88[ASN][1000 genomes]
rs6471732	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6998210	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7006937	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7011066	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72647451	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7825739	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7833791	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59507400-59561200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:59509000-59560400	Weak transcription	Brain Substantia Nigra	brain
4	chr8:59510200-59554800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:59510400-59551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:59510400-59570200	Weak transcription	Colonic Mucosa	Colon
7	chr8:59513000-59561200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:59520600-59554600	Weak transcription	HMEC	breast
9	chr8:59522000-59570200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:59524200-59554400	Weak transcription	NHEK	skin
11	chr8:59529400-59554600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr8:59533800-59553000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:59535800-59552400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:59535800-59561000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:59535800-59561000	Weak transcription	Small Intestine	intestine
16	chr8:59536200-59564000	Weak transcription	Fetal Brain Male	brain
17	chr8:59539600-59550800	Weak transcription	A549	lung
18	chr8:59540600-59555600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:59541200-59553000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:59541400-59554600	Strong transcription	Fetal Thymus	thymus
21	chr8:59541400-59555200	Strong transcription	Dnd41	blood
22	chr8:59541600-59559400	Weak transcription	HepG2	liver
23	chr8:59541800-59552400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:59542000-59551800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:59542000-59553400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr8:59542400-59555400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:59542600-59554200	Weak transcription	NHLF	lung
28	chr8:59542800-59554400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:59542800-59560800	Weak transcription	Fetal Brain Female	brain
30	chr8:59543000-59550600	Weak transcription	Fetal Heart	heart
31	chr8:59543000-59555800	Weak transcription	Psoas Muscle	Psoas
32	chr8:59543200-59554200	Weak transcription	NH-A	brain
33	chr8:59543200-59555800	Weak transcription	Ovary	ovary
34	chr8:59543200-59555800	Weak transcription	Pancreas	Pancrea
35	chr8:59543200-59559600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:59543200-59559600	Weak transcription	Lung	lung
37	chr8:59543200-59564000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:59543200-59570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:59543200-59570200	Weak transcription	Fetal Kidney	kidney
40	chr8:59543400-59550600	Weak transcription	Fetal Lung	lung
41	chr8:59543400-59551200	Weak transcription	Osteobl	bone
42	chr8:59543400-59555400	Weak transcription	HSMMtube	muscle
43	chr8:59543400-59557800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:59543400-59564000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:59543400-59564200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:59543400-59564200	Weak transcription	Right Ventricle	heart
47	chr8:59543400-59570000	Weak transcription	Brain Angular Gyrus	brain
48	chr8:59543600-59550600	Weak transcription	Liver	Liver
49	chr8:59543600-59550600	Weak transcription	Placenta	Placenta
50	chr8:59543600-59551000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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