Variant report

Variant	rs8040732
Chromosome Location	chr15:34446589-34446590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr15:34446368-34447342	K562	blood:	n/a	n/a
2	KAP1	chr15:34446469-34447326	K562	blood:	n/a	n/a
3	TCF12	chr15:34446566-34447688	A549	lung:	n/a	n/a

Variant related genes	Relation type
KATNBL1	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10775222	0.80[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs10851950	0.92[ASN][1000 genomes]
rs10851952	0.85[CHB][hapmap];0.87[CHD][hapmap];0.82[MEX][hapmap]
rs11072998	0.94[ASN][1000 genomes]
rs11635964	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs11636442	0.80[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.96[ASN][1000 genomes]
rs11852537	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11854686	0.89[YRI][hapmap];0.85[ASN][1000 genomes]
rs11857205	0.85[ASN][1000 genomes]
rs11857684	0.95[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12437551	0.93[CHB][hapmap];0.87[CHD][hapmap];0.91[MEX][hapmap]
rs12591181	0.80[CEU][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12594077	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16958829	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16958835	0.85[CHB][hapmap];0.84[CHD][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs16958836	0.85[CHB][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs16958848	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1836977	0.88[ASN][1000 genomes]
rs1836978	0.91[ASN][1000 genomes]
rs1978810	0.95[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.85[ASN][1000 genomes]
rs2339368	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2339369	0.94[ASN][1000 genomes]
rs28538047	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28652966	0.80[ASN][1000 genomes]
rs28768700	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28813796	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4780226	0.92[ASN][1000 genomes]
rs56731918	0.82[ASN][1000 genomes]
rs56936283	0.83[ASN][1000 genomes]
rs57530092	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57699120	0.82[ASN][1000 genomes]
rs57715967	0.85[ASN][1000 genomes]
rs58875083	0.82[ASN][1000 genomes]
rs59611916	0.83[ASN][1000 genomes]
rs59635553	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60749797	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6495558	0.85[ASN][1000 genomes]
rs6495580	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7166360	0.83[ASN][1000 genomes]
rs7168761	0.81[CHD][hapmap]
rs7172480	0.83[ASN][1000 genomes]
rs7172633	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7173244	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7174442	0.94[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7174586	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7175168	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7178002	0.85[CHB][hapmap];0.88[CHD][hapmap];0.96[YRI][hapmap]
rs7178203	0.94[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7178988	0.95[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.82[ASN][1000 genomes]
rs7181687	0.83[ASW][hapmap];0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.82[ASN][1000 genomes]
rs7181902	0.83[ASW][hapmap];0.95[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.82[ASN][1000 genomes]
rs73376164	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73376168	0.83[ASN][1000 genomes]
rs73376178	0.85[ASN][1000 genomes]
rs73376181	0.85[ASN][1000 genomes]
rs73376192	0.85[ASN][1000 genomes]
rs73376193	0.85[ASN][1000 genomes]
rs73376196	0.85[ASN][1000 genomes]
rs73378126	0.82[ASN][1000 genomes]
rs73378128	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73378138	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73378141	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73378144	0.81[ASN][1000 genomes]
rs7497840	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7497951	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8025406	0.80[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.92[ASN][1000 genomes]
rs8025730	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026939	0.80[ASN][1000 genomes]
rs8027499	0.93[CHB][hapmap]
rs8027830	0.82[ASN][1000 genomes]
rs8028932	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8028950	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8031102	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8034315	0.82[ASN][1000 genomes]
rs8035493	0.80[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs8036468	0.93[CHB][hapmap];0.81[CHD][hapmap];0.82[MEX][hapmap]
rs8036791	0.82[ASN][1000 genomes]
rs8040861	0.96[ASN][1000 genomes]
rs8043216	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs9920654	0.92[ASN][1000 genomes]
rs9972505	0.82[ASW][hapmap];0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.92[TSI][hapmap];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035579	chr15:34363159-34501115	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8040732	NOP10	cis	cerebellum	SCAN
rs8040732	NOP10	cis	Thyroid	GTEx
rs8040732	C15orf29	cis	normal skin	skin_eQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34429800-34456800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr15:34430600-34446600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr15:34431200-34453200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:34431400-34446800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr15:34433000-34446600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:34433000-34446800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr15:34433200-34448200	Weak transcription	Gastric	stomach
8	chr15:34433400-34453200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:34434000-34453000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:34434400-34450200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr15:34434600-34446600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr15:34435800-34453000	Weak transcription	Stomach Mucosa	stomach
13	chr15:34437200-34446800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr15:34437200-34449600	Strong transcription	Stomach Smooth Muscle	stomach
15	chr15:34437600-34446800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:34438000-34446600	Weak transcription	Hela-S3	cervix
17	chr15:34438200-34447000	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:34438400-34447000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:34438400-34453000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:34439000-34454600	Weak transcription	Brain Angular Gyrus	brain
21	chr15:34439400-34446800	Weak transcription	HepG2	liver
22	chr15:34439800-34446800	Strong transcription	Fetal Muscle Leg	muscle
23	chr15:34440000-34448400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:34440800-34446800	Weak transcription	Colonic Mucosa	Colon
25	chr15:34441800-34447400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:34442600-34446800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:34442600-34447000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:34443000-34447000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:34443400-34446800	Weak transcription	Small Intestine	intestine
30	chr15:34443400-34449400	Weak transcription	Fetal Brain Male	brain
31	chr15:34443400-34450600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr15:34443400-34453000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:34443400-34453400	Weak transcription	Colon Smooth Muscle	Colon
34	chr15:34443400-34456400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr15:34443600-34446600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr15:34443600-34447000	Weak transcription	Brain Germinal Matrix	brain
37	chr15:34443800-34446800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr15:34444000-34455400	Weak transcription	Brain Anterior Caudate	brain
39	chr15:34444200-34446800	Weak transcription	Aorta	Aorta
40	chr15:34444400-34453200	Weak transcription	Spleen	Spleen
41	chr15:34444400-34456400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr15:34444600-34446800	Weak transcription	Ovary	ovary
43	chr15:34444600-34449600	ZNF genes & repeats	HMEC	breast
44	chr15:34444800-34446800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr15:34444800-34446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:34444800-34446800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:34444800-34446800	Weak transcription	Fetal Intestine Small	intestine
48	chr15:34444800-34446800	Weak transcription	Fetal Stomach	stomach
49	chr15:34444800-34447000	Weak transcription	Esophagus	oesophagus
50	chr15:34444800-34447000	Weak transcription	Pancreas	Pancrea

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