Variant report

Variant	rs8030246
Chromosome Location	chr15:59341646-59341647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10431762	0.90[ASN][1000 genomes]
rs10431791	0.82[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs10518996	0.81[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap]
rs1074702	0.89[ASN][1000 genomes]
rs10851642	0.90[ASN][1000 genomes]
rs10851643	0.86[CEU][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.86[AMR][1000 genomes]
rs11071405	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11635820	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs11852461	0.86[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11855536	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12050865	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12101733	0.87[ASN][1000 genomes]
rs12438111	0.86[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs12438128	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12438208	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12438962	0.81[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12440692	0.80[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap]
rs12441973	0.97[ASN][1000 genomes]
rs12442086	0.86[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs12442134	0.88[ASN][1000 genomes]
rs12442301	0.90[ASN][1000 genomes]
rs12906212	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12907548	0.85[LWK][hapmap]
rs12907957	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12910987	0.87[ASN][1000 genomes]
rs12912429	0.90[ASN][1000 genomes]
rs12913177	0.83[CHD][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap]
rs12915899	0.86[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.87[ASN][1000 genomes]
rs12917373	0.85[ASN][1000 genomes]
rs1345116	0.86[CHB][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1374155	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.96[MEX][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1374156	0.85[ASN][1000 genomes]
rs1446237	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1446238	0.88[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1446239	0.86[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs1665049	0.81[CHB][hapmap];0.92[CHD][hapmap]
rs1665050	0.91[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap]
rs1665051	0.87[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs1693532	0.81[CHB][hapmap]
rs16940987	0.83[YRI][hapmap]
rs16940998	0.90[CEU][hapmap];0.81[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16941014	0.87[ASN][1000 genomes]
rs17236369	0.90[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs17236383	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17236453	0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs17302142	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17302191	0.89[CEU][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes]
rs1867757	0.82[JPT][hapmap]
rs1968606	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1968607	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1971181	0.90[ASN][1000 genomes]
rs1975534	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2084161	0.90[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap]
rs2121236	0.86[JPT][hapmap]
rs2289895	0.81[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs2414618	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2899640	0.86[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs34407560	0.90[ASN][1000 genomes]
rs34718679	0.91[AMR][1000 genomes]
rs34859729	0.88[ASN][1000 genomes]
rs35210199	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35658945	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35769647	0.90[ASN][1000 genomes]
rs36125140	0.92[ASN][1000 genomes]
rs3794501	0.83[ASN][1000 genomes]
rs4218	0.83[MEX][hapmap]
rs4531679	0.86[CHD][hapmap];0.83[JPT][hapmap]
rs4774320	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4774321	0.87[CHB][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4775110	0.86[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4775111	0.87[CHB][hapmap];0.87[JPT][hapmap];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4775114	0.95[ASN][1000 genomes]
rs4775115	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57361749	0.87[ASN][1000 genomes]
rs57557135	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58087223	0.90[ASN][1000 genomes]
rs58335303	0.80[ASN][1000 genomes]
rs58417366	0.87[ASN][1000 genomes]
rs59282449	0.85[ASN][1000 genomes]
rs59514650	0.87[ASN][1000 genomes]
rs59540276	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60262196	0.90[ASN][1000 genomes]
rs60741546	0.90[ASN][1000 genomes]
rs61022867	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62002543	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs62002544	0.90[ASN][1000 genomes]
rs6494054	0.91[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];0.87[JPT][hapmap]
rs6494064	0.91[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs6494065	0.82[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs6494069	0.83[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap]
rs71480503	0.87[ASN][1000 genomes]
rs7165028	0.80[ASN][1000 genomes]
rs7168102	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7169181	0.82[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs7173135	0.95[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes]
rs7175215	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7175246	0.86[AMR][1000 genomes]
rs7175490	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7176281	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7176576	0.85[AMR][1000 genomes]
rs7178935	0.86[CHD][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap]
rs8026611	0.85[ASN][1000 genomes]
rs8027536	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8028752	0.80[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8028764	0.91[CHB][hapmap];0.90[CHD][hapmap];0.87[JPT][hapmap]
rs8029336	0.86[AMR][1000 genomes]
rs8030323	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8031390	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8037569	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs8039514	0.82[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap]
rs8040456	0.83[JPT][hapmap]
rs8041221	0.86[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs8041704	0.86[ASN][1000 genomes]
rs8042516	0.83[CHD][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap]
rs877269	0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs9302206	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs9788719	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv904271	chr15:59249584-59393011	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv520679	chr15:59268410-59376531	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv520872	chr15:59268410-59395184	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv510663	chr15:59310676-59370041	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
8	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats 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 miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv984077	chr15:59337976-59344085	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8030246	FAM63B	cis	parietal	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59281200-59352600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:59281400-59347800	Weak transcription	Colonic Mucosa	Colon
3	chr15:59281800-59352200	Weak transcription	Aorta	Aorta
4	chr15:59281800-59353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:59283800-59344800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr15:59283800-59359000	Weak transcription	Fetal Brain Male	brain
7	chr15:59288400-59351200	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:59295200-59349200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr15:59305400-59354400	Weak transcription	Gastric	stomach
10	chr15:59306000-59353400	Weak transcription	Fetal Heart	heart
11	chr15:59308400-59358000	Weak transcription	Spleen	Spleen
12	chr15:59309200-59359000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:59323600-59359000	Weak transcription	Esophagus	oesophagus
14	chr15:59323800-59343000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr15:59323800-59347600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr15:59323800-59348400	Weak transcription	Brain Anterior Caudate	brain
17	chr15:59324000-59344600	Weak transcription	HMEC	breast
18	chr15:59324000-59345200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:59324000-59347800	Weak transcription	NHLF	lung
20	chr15:59324000-59350600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr15:59324000-59350600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:59324000-59351000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:59325000-59354800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:59325200-59344400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:59325200-59345000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:59325200-59345800	Weak transcription	NHDF-Ad	bronchial
27	chr15:59325400-59344800	Weak transcription	NH-A	brain
28	chr15:59325400-59347800	Weak transcription	HSMMtube	muscle
29	chr15:59325400-59350000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:59325400-59352000	Weak transcription	Fetal Lung	lung
31	chr15:59325800-59344800	Weak transcription	Osteobl	bone
32	chr15:59325800-59345200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr15:59325800-59345800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:59325800-59348800	Weak transcription	Fetal Kidney	kidney
35	chr15:59325800-59350600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr15:59326000-59345000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr15:59326000-59345400	Weak transcription	Adipose Nuclei	Adipose
38	chr15:59326400-59349400	Weak transcription	Colon Smooth Muscle	Colon
39	chr15:59326400-59365200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr15:59326600-59344200	Weak transcription	K562	blood
41	chr15:59327000-59345200	Weak transcription	HSMM	muscle
42	chr15:59327600-59347800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr15:59327800-59344800	Weak transcription	Dnd41	blood
44	chr15:59328000-59344200	Weak transcription	Liver	Liver
45	chr15:59328400-59348000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:59328800-59344200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr15:59328800-59350600	Weak transcription	Brain Germinal Matrix	brain
48	chr15:59329000-59350800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr15:59329200-59349000	Weak transcription	NHEK	skin
50	chr15:59329200-59352200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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