Variant report

Variant	rs10113830
Chromosome Location	chr8:59547804-59547805
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59541868..59543623-chr8:59545903..59548145,2	K562	blood:
2	chr8:59546806..59548980-chr8:59553502..59556348,2	K562	blood:
3	chr8:59546806..59548891-chr8:59553502..59555993,2	K562	blood:
4	chr8:59547052..59548571-chr8:59569489..59571850,2	K562	blood:

Variant related genes	Relation type
ENSG00000035681	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10087843	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10088541	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10090212	0.98[ASN][1000 genomes]
rs10090837	0.98[ASN][1000 genomes]
rs10091952	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10107530	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10111180	0.90[EUR][1000 genomes]
rs10112330	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10113323	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10113667	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10957063	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11774558	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11774998	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11782455	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11785141	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11985566	0.99[ASN][1000 genomes]
rs11994921	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12171670	0.98[ASN][1000 genomes]
rs12674724	0.89[EUR][1000 genomes]
rs12679938	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1352496	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1387222	0.98[ASN][1000 genomes]
rs16923594	0.89[EUR][1000 genomes]
rs16923637	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17206746	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17272151	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1976162	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2130072	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2279460	0.81[EUR][1000 genomes]
rs2279462	0.80[EUR][1000 genomes]
rs28429099	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28489122	0.99[ASN][1000 genomes]
rs28711402	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28755983	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28886919	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3816846	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4266636	0.97[ASN][1000 genomes]
rs4598239	0.97[ASN][1000 genomes]
rs56249776	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60567264	0.88[ASN][1000 genomes]
rs6471732	0.98[ASN][1000 genomes]
rs6998210	0.98[ASN][1000 genomes]
rs7006937	0.97[ASN][1000 genomes]
rs7011066	0.97[ASN][1000 genomes]
rs72647437	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72647443	0.85[AMR][1000 genomes]
rs72647451	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7825739	0.86[ASN][1000 genomes]
rs7833791	0.81[AMR][1000 genomes];1.00[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:120 , 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	chr8:59498600-59548400	Weak transcription	Stomach Mucosa	stomach
3	chr8:59507400-59561200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:59509000-59560400	Weak transcription	Brain Substantia Nigra	brain
5	chr8:59510200-59554800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:59510400-59551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:59510400-59570200	Weak transcription	Colonic Mucosa	Colon
8	chr8:59513000-59561200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:59520600-59554600	Weak transcription	HMEC	breast
10	chr8:59522000-59570200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:59524200-59554400	Weak transcription	NHEK	skin
12	chr8:59529400-59554600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:59533800-59553000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:59535800-59552400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr8:59535800-59561000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:59535800-59561000	Weak transcription	Small Intestine	intestine
17	chr8:59536200-59564000	Weak transcription	Fetal Brain Male	brain
18	chr8:59539600-59550800	Weak transcription	A549	lung
19	chr8:59540600-59555600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:59541200-59553000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:59541400-59554600	Strong transcription	Fetal Thymus	thymus
22	chr8:59541400-59555200	Strong transcription	Dnd41	blood
23	chr8:59541600-59559400	Weak transcription	HepG2	liver
24	chr8:59541800-59552400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:59542000-59551800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:59542000-59553400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr8:59542200-59548200	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:59542400-59555400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:59542600-59554200	Weak transcription	NHLF	lung
30	chr8:59542800-59554400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:59542800-59560800	Weak transcription	Fetal Brain Female	brain
32	chr8:59543000-59550600	Weak transcription	Fetal Heart	heart
33	chr8:59543000-59555800	Weak transcription	Psoas Muscle	Psoas
34	chr8:59543200-59548200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:59543200-59554200	Weak transcription	NH-A	brain
36	chr8:59543200-59555800	Weak transcription	Ovary	ovary
37	chr8:59543200-59555800	Weak transcription	Pancreas	Pancrea
38	chr8:59543200-59559600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:59543200-59559600	Weak transcription	Lung	lung
40	chr8:59543200-59564000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:59543200-59570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:59543200-59570200	Weak transcription	Fetal Kidney	kidney
43	chr8:59543400-59549000	Weak transcription	Colon Smooth Muscle	Colon
44	chr8:59543400-59550600	Weak transcription	Fetal Lung	lung
45	chr8:59543400-59551200	Weak transcription	Osteobl	bone
46	chr8:59543400-59555400	Weak transcription	HSMMtube	muscle
47	chr8:59543400-59557800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:59543400-59564000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:59543400-59564200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:59543400-59564200	Weak transcription	Right Ventricle	heart

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