Variant report

Variant	rs6494054
Chromosome Location	chr15:59306780-59306781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59305653..59307267-chr15:59397091..59399037,2	K562	blood:
2	chr15:59304410..59307267-chr15:59395563..59399037,3	K562	blood:
3	chr15:59306289..59309099-chr15:59310666..59312444,2	K562	blood:

Variant related genes	Relation type
ENSG00000157456	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10431791	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10431792	0.89[ASN][1000 genomes]
rs10518996	0.84[ASW][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.84[MEX][hapmap];0.97[MKK][hapmap];0.85[TSI][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1074701	0.87[ASN][1000 genomes]
rs10851643	0.81[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs11071405	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11635820	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11852461	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11855536	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs12050865	0.85[ASN][1000 genomes]
rs12101733	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12437587	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12438111	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12438128	0.83[ASN][1000 genomes]
rs12438208	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs12438962	0.81[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap]
rs12440692	0.81[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs12442086	0.81[JPT][hapmap]
rs12900369	0.85[ASN][1000 genomes]
rs12902628	0.85[ASN][1000 genomes]
rs12906212	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs12907187	0.85[ASN][1000 genomes]
rs12913177	0.81[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs12915899	0.85[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap]
rs1345116	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1374155	0.91[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs1374156	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1446237	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs1446238	0.83[CHB][hapmap]
rs1446239	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.93[MKK][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1665049	0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs1665050	0.85[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.96[ASN][1000 genomes]
rs1665051	0.84[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.92[ASN][1000 genomes]
rs1693532	0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs16940998	0.83[GIH][hapmap]
rs17236369	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17236383	0.91[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs17302163	0.88[ASN][1000 genomes]
rs17302191	0.85[JPT][hapmap]
rs1867757	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1968606	0.85[ASN][1000 genomes]
rs1968607	0.85[ASN][1000 genomes]
rs1975534	0.82[ASN][1000 genomes]
rs2084161	0.81[CHB][hapmap];0.83[CHD][hapmap]
rs2121236	0.81[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2121237	0.85[ASN][1000 genomes]
rs2289895	0.81[CHD][hapmap];0.83[GIH][hapmap]
rs2414618	0.85[ASN][1000 genomes]
rs2414619	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28391430	0.85[ASN][1000 genomes]
rs28514475	0.85[ASN][1000 genomes]
rs28610479	0.85[ASN][1000 genomes]
rs2899640	0.82[JPT][hapmap]
rs34338282	0.84[ASN][1000 genomes]
rs34718679	0.99[ASN][1000 genomes]
rs34977427	0.88[ASN][1000 genomes]
rs35066133	0.86[ASN][1000 genomes]
rs35204615	0.85[ASN][1000 genomes]
rs35210199	0.84[ASN][1000 genomes]
rs35460138	0.84[ASN][1000 genomes]
rs35555888	0.85[ASN][1000 genomes]
rs35658945	0.84[ASN][1000 genomes]
rs4218	0.86[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap]
rs4531679	0.84[ASW][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.97[MKK][hapmap];0.86[TSI][hapmap];0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4774320	0.84[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.87[JPT][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap];0.82[ASN][1000 genomes]
rs4774321	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4775110	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.96[ASN][1000 genomes]
rs4775111	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58335303	0.92[ASN][1000 genomes]
rs58417366	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62002516	0.99[ASN][1000 genomes]
rs6494064	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6494065	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6494069	0.84[ASW][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.87[LWK][hapmap];0.84[MEX][hapmap];0.93[MKK][hapmap];0.85[TSI][hapmap];0.85[ASN][1000 genomes]
rs7165028	0.92[ASN][1000 genomes]
rs7168102	0.96[ASN][1000 genomes]
rs7173135	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7175215	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7175246	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175490	0.91[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7176281	0.92[ASN][1000 genomes]
rs7176576	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7178935	0.86[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.92[MKK][hapmap];0.88[ASN][1000 genomes]
rs73418863	0.81[ASN][1000 genomes]
rs73418864	0.85[ASN][1000 genomes]
rs8025246	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8026611	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8027536	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8028752	0.91[CHB][hapmap];0.90[CHD][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs8028764	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.99[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8029336	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8030246	0.91[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];0.87[JPT][hapmap]
rs8037569	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs8039514	0.82[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs8040456	0.81[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs8041221	0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8041704	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8042516	0.81[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs8042896	0.85[ASN][1000 genomes]
rs877269	0.82[JPT][hapmap]
rs9302206	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9788719	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6494054	FAM63B	cis	parietal	SCAN

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59280800-59308800	Weak transcription	Esophagus	oesophagus
2	chr15:59280800-59327800	Weak transcription	Small Intestine	intestine
3	chr15:59281200-59352600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:59281400-59323200	Weak transcription	Ovary	ovary
5	chr15:59281400-59347800	Weak transcription	Colonic Mucosa	Colon
6	chr15:59281600-59311000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:59281800-59352200	Weak transcription	Aorta	Aorta
8	chr15:59281800-59353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:59282000-59323000	Weak transcription	Fetal Lung	lung
10	chr15:59282000-59323200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr15:59282000-59323200	Weak transcription	Fetal Kidney	kidney
12	chr15:59282400-59308600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:59282400-59323200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr15:59282400-59323400	Weak transcription	NHLF	lung
15	chr15:59283800-59313400	Weak transcription	Right Atrium	heart
16	chr15:59283800-59329000	Weak transcription	Pancreas	Pancrea
17	chr15:59283800-59344800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:59283800-59359000	Weak transcription	Fetal Brain Male	brain
19	chr15:59284600-59308800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:59284600-59323000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr15:59284800-59308800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr15:59284800-59323000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:59285000-59308800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr15:59285000-59323000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:59285000-59328000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:59285200-59323000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:59285200-59323000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:59287200-59307800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:59287400-59319000	Weak transcription	Brain Germinal Matrix	brain
30	chr15:59288400-59351200	Weak transcription	Brain Hippocampus Middle	brain
31	chr15:59292200-59321600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr15:59293200-59309800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr15:59293400-59311600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr15:59293800-59317000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr15:59295200-59349200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr15:59295400-59308000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr15:59295600-59323000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr15:59295600-59335400	Weak transcription	Lung	lung
39	chr15:59295800-59308800	Weak transcription	Fetal Brain Female	brain
40	chr15:59295800-59323200	Weak transcription	Thymus	Thymus
41	chr15:59296200-59307000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr15:59296600-59308600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr15:59297600-59307000	Weak transcription	GM12878-XiMat	blood
44	chr15:59297600-59314200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr15:59297600-59314600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr15:59297800-59314600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr15:59297800-59323200	Weak transcription	HepG2	liver
48	chr15:59297800-59323200	Weak transcription	NH-A	brain
49	chr15:59298000-59317000	Weak transcription	Osteobl	bone
50	chr15:59298200-59309000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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