Variant report

Variant	rs6690848
Chromosome Location	chr1:171872658-171872659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1015008	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1022541	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1040517	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10737337	0.82[ASN][1000 genomes]
rs10737338	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10753202	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10753203	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10753204	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10753205	0.83[ASN][1000 genomes]
rs1076700	0.83[ASN][1000 genomes]
rs10798695	0.83[ASN][1000 genomes]
rs10798701	0.83[ASN][1000 genomes]
rs10798702	0.83[ASN][1000 genomes]
rs10798705	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10798706	0.84[CHB][hapmap];0.89[CHD][hapmap];0.80[ASN][1000 genomes]
rs10798716	0.83[ASN][1000 genomes]
rs10798722	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10798725	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10798726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10913908	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1118173	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs12021814	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12024869	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12025243	0.91[CEU][hapmap];0.91[GIH][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs12029015	0.86[EUR][1000 genomes]
rs12040254	0.91[CEU][hapmap];0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12047542	0.87[EUR][1000 genomes]
rs12405583	0.83[ASN][1000 genomes]
rs12747663	0.87[EUR][1000 genomes]
rs1535301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1972340	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980488	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2145383	0.91[CEU][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs2206543	0.84[CHB][hapmap];0.89[CHD][hapmap];0.83[ASN][1000 genomes]
rs2235696	0.83[ASN][1000 genomes]
rs2421915	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs2421947	0.84[CHB][hapmap];0.89[CHD][hapmap];0.83[ASN][1000 genomes]
rs2901600	0.84[CHB][hapmap];0.89[CHD][hapmap];0.83[ASN][1000 genomes]
rs34906981	0.94[EUR][1000 genomes]
rs4500358	0.83[ASN][1000 genomes]
rs4596936	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4916235	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4916400	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4916401	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4916402	0.83[ASN][1000 genomes]
rs4916403	0.83[ASN][1000 genomes]
rs4916404	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4916411	0.94[EUR][1000 genomes]
rs6425454	0.83[ASN][1000 genomes]
rs6425455	0.83[ASN][1000 genomes]
rs6425456	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6425468	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425484	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6425518	0.87[EUR][1000 genomes]
rs6657315	0.83[ASN][1000 genomes]
rs6660011	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6665335	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6673646	0.83[CHD][hapmap]
rs6679341	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6683945	0.84[CHB][hapmap];0.89[CHD][hapmap];0.83[ASN][1000 genomes]
rs6685974	0.83[ASN][1000 genomes]
rs6686260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689231	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs6701033	0.86[CHD][hapmap]
rs6702944	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs71523161	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742509	0.83[ASN][1000 genomes]
rs742510	0.84[CHB][hapmap];0.89[CHD][hapmap];0.83[ASN][1000 genomes]
rs7514627	0.83[ASN][1000 genomes]
rs7517331	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7526653	0.87[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7554700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7554935	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs926545	0.84[CHB][hapmap];0.89[CHD][hapmap];0.83[ASN][1000 genomes]
rs926546	0.82[ASN][1000 genomes]
rs965051	0.84[CHB][hapmap];0.83[ASN][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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6690848	KIFAP3	cis	parietal	SCAN
rs6690848	NME7	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171862200-171882600	Weak transcription	Aorta	Aorta
2	chr1:171868600-171880800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:171868800-171878000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:171868800-171884000	Weak transcription	Fetal Lung	lung
5	chr1:171868800-171885000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:171869200-171876600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:171869400-171879400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:171870000-171878000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:171871200-171879000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:171871600-171878000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:171872000-171873800	Weak transcription	Brain Anterior Caudate	brain
12	chr1:171872000-171874200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:171872200-171873000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:171872200-171873200	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:171872200-171873800	Weak transcription	Brain Angular Gyrus	brain
16	chr1:171872200-171876600	Weak transcription	Right Atrium	heart
17	chr1:171872200-171883000	Weak transcription	Lung	lung
18	chr1:171872400-171873000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:171872400-171874000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:171872600-171878000	Weak transcription	Brain Substantia Nigra	brain
21	chr1:171872600-171879400	Weak transcription	NHEK	skin
22	chr1:171872600-171879600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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