Variant report

Variant	rs10956431
Chromosome Location	chr8:91058391-91058392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10092098	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10104321	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1011682	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1011683	0.87[EUR][1000 genomes]
rs10216992	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10755930	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11778638	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11784904	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12547667	0.82[EUR][1000 genomes]
rs12549107	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12679577	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13264478	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13265193	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1800645	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1805792	0.80[EUR][1000 genomes]
rs1805794	0.80[EUR][1000 genomes]
rs1805795	0.80[EUR][1000 genomes]
rs1805803	0.80[EUR][1000 genomes]
rs1805804	0.81[EUR][1000 genomes]
rs1805808	0.86[EUR][1000 genomes]
rs1805865	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805870	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805876	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1805877	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2072656	0.87[EUR][1000 genomes]
rs2074593	0.88[EUR][1000 genomes]
rs2074596	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2091887	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2091888	0.83[ASN][1000 genomes]
rs2097825	0.86[EUR][1000 genomes]
rs2107465	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2267543	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2339025	0.80[EUR][1000 genomes]
rs3026276	0.81[EUR][1000 genomes]
rs34394839	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4960982	0.82[ASN][1000 genomes]
rs4961166	0.86[EUR][1000 genomes]
rs4961167	0.88[EUR][1000 genomes]
rs61427172	0.81[EUR][1000 genomes]
rs6470668	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6470671	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6470713	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6988013	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6993054	0.87[EUR][1000 genomes]
rs6994202	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7011299	0.88[EUR][1000 genomes]
rs7012846	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71528733	0.81[EUR][1000 genomes]
rs71528739	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72671845	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs741778	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7459577	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7460025	0.83[ASN][1000 genomes]
rs7461859	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7463278	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7463645	0.80[EUR][1000 genomes]
rs7463923	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7815279	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7816839	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7821408	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7822272	0.87[EUR][1000 genomes]
rs7822950	0.88[EUR][1000 genomes]
rs7832009	0.80[EUR][1000 genomes]
rs926092	0.86[EUR][1000 genomes]
rs9297784	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9649958	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9650096	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9792335	0.80[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	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
2	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10956431	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91015600-91066200	Weak transcription	Hela-S3	cervix
2	chr8:91018600-91065400	Weak transcription	HMEC	breast
3	chr8:91027600-91066800	Weak transcription	NHEK	skin
4	chr8:91029400-91066000	Weak transcription	HUVEC	blood vessel
5	chr8:91032000-91064000	Weak transcription	Fetal Brain Male	brain
6	chr8:91032000-91064800	Weak transcription	NHLF	lung
7	chr8:91033800-91064400	Weak transcription	NH-A	brain
8	chr8:91040200-91059200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:91041400-91058800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr8:91046800-91059200	Strong transcription	Adipose Nuclei	Adipose
11	chr8:91047200-91058800	Strong transcription	Primary B cells from cord blood	blood
12	chr8:91048200-91058600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr8:91048200-91058600	Strong transcription	Stomach Smooth Muscle	stomach
14	chr8:91048200-91058800	Strong transcription	Duodenum Mucosa	Duodenum
15	chr8:91048200-91059000	Strong transcription	Primary T cells from cord blood	blood
16	chr8:91048200-91059000	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:91048200-91059000	Strong transcription	Liver	Liver
18	chr8:91048600-91058600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:91048600-91058800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:91048600-91059000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:91049000-91058600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:91049200-91058400	Strong transcription	Placenta	Placenta
23	chr8:91049600-91066800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:91049800-91067200	Weak transcription	Osteobl	bone
25	chr8:91050200-91065000	Weak transcription	Small Intestine	intestine
26	chr8:91050200-91066800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:91051600-91059000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:91052000-91060200	Weak transcription	K562	blood
29	chr8:91052400-91061200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:91052400-91067200	Weak transcription	Brain Substantia Nigra	brain
31	chr8:91052400-91069200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:91052600-91067000	Weak transcription	Brain Angular Gyrus	brain
33	chr8:91053000-91065000	Weak transcription	Psoas Muscle	Psoas
34	chr8:91053200-91058600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:91053400-91059000	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:91053600-91059000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:91053800-91058400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr8:91053800-91058600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr8:91053800-91058600	Strong transcription	Fetal Thymus	thymus
40	chr8:91054400-91058600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:91054400-91058600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:91054400-91059000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr8:91054600-91058600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr8:91054600-91058600	Strong transcription	Fetal Intestine Large	intestine
45	chr8:91054600-91059000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:91054600-91059000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr8:91054800-91058600	Strong transcription	Colon Smooth Muscle	Colon
48	chr8:91055000-91059000	Strong transcription	Left Ventricle	heart
49	chr8:91055000-91059200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:91055400-91058600	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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