Variant report

Variant	rs11985382
Chromosome Location	chr8:99496484-99496485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99488977..99492664-chr8:99493319..99496807,5	MCF-7	breast:
2	chr8:99493136..99495767-chr8:99496191..99498729,2	MCF-7	breast:
3	chr1:149223550..149224400-chr8:99495957..99496812,7	MCF-7	breast:
4	chr8:99489060..99491357-chr8:99493782..99497773,3	K562	blood:

Variant related genes	Relation type
ENSG00000206737	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10086870	0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10096329	0.81[JPT][hapmap]
rs10098835	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10099978	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10100346	0.91[CEU][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap]
rs10100378	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10100546	1.00[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10100577	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10101919	0.86[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10111264	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10441501	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955174	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10955175	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10955176	0.81[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10955177	0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10955178	0.82[JPT][hapmap];0.88[AMR][1000 genomes]
rs10955179	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10955180	0.82[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10955181	0.82[ASW][hapmap];0.82[CHB][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.85[LWK][hapmap];0.83[MEX][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes]
rs10955184	1.00[CEU][hapmap];0.82[CHB][hapmap];0.80[JPT][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10955185	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11781352	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11994001	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12056323	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12541026	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];0.82[LWK][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12542022	1.00[CEU][hapmap];0.83[GIH][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12542931	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12544768	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12547922	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12548477	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12549563	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12550198	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12677171	0.90[EUR][1000 genomes]
rs13257475	0.81[JPT][hapmap]
rs13268777	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13270534	1.00[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];0.83[TSI][hapmap];0.88[YRI][hapmap];0.94[ASN][1000 genomes]
rs16892236	1.00[CEU][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16896996	0.87[ASN][1000 genomes]
rs16897061	0.96[CEU][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs16897076	0.82[JPT][hapmap]
rs1893884	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2001728	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34580087	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3802198	0.82[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.85[LWK][hapmap];0.83[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4130753	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4236853	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4301421	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4332102	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.84[LWK][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4348458	0.83[EUR][1000 genomes]
rs4370499	0.96[CEU][hapmap];0.83[GIH][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4388428	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4407850	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4618666	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4734406	0.81[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4734407	0.82[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.81[LWK][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735564	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4995528	0.81[CEU][hapmap];0.83[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62532757	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6651181	1.00[ASW][hapmap];0.82[CHB][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6985600	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6991043	0.82[JPT][hapmap]
rs7007360	0.81[CEU][hapmap];0.83[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7011763	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7015739	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7815227	0.81[CEU][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7845395	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7845750	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9642951	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11985382	NACAP1	cis	parietal	SCAN
rs11985382	OSR2	cis	cerebellum	SCAN
rs11985382	PABPC1	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99461800-99525000	Weak transcription	Psoas Muscle	Psoas
2	chr8:99479600-99504600	Weak transcription	NHEK	skin
3	chr8:99479800-99502800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:99486600-99536000	Weak transcription	Placenta	Placenta
5	chr8:99490400-99547600	Weak transcription	Ovary	ovary
6	chr8:99490800-99499400	Weak transcription	Small Intestine	intestine
7	chr8:99491200-99497800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:99491200-99498600	Weak transcription	Fetal Lung	lung
9	chr8:99491400-99504800	Weak transcription	HSMMtube	muscle
10	chr8:99491600-99500000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:99492200-99498600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:99492400-99498800	Weak transcription	NHDF-Ad	bronchial
13	chr8:99492400-99499400	Weak transcription	A549	lung
14	chr8:99492600-99505600	Weak transcription	HSMM	muscle
15	chr8:99494600-99496800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:99495400-99499200	Weak transcription	Osteobl	bone
17	chr8:99496000-99499200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:99496200-99498800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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