Variant report

Variant	rs8040745
Chromosome Location	chr15:74818132-74818133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74814820..74820281-chr15:74822115..74824937,6	MCF-7	breast:
2	chr15:74817985..74820137-chr15:74821769..74824391,2	MCF-7	breast:
3	chr15:74818058..74820598-chr15:74821407..74823908,2	K562	blood:
4	chr15:74797904..74799554-chr15:74816745..74819430,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1030889	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs10459601	0.87[GIH][hapmap]
rs10459648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10851871	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs10851873	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs11072490	0.82[ASN][1000 genomes]
rs11072492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11072493	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072494	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11072495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11072496	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11072497	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11072498	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11072499	0.87[GIH][hapmap]
rs11629749	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11629946	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11854461	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs11857558	0.83[ASW][hapmap];0.87[TSI][hapmap]
rs12437519	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12439113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12441932	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12442013	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12442097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12592512	0.81[EUR][1000 genomes]
rs12594447	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16969247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16969393	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs16969612	0.81[ASN][1000 genomes]
rs1821847	0.82[ASN][1000 genomes]
rs1821848	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1866113	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap]
rs2068982	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2198843	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs2289187	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs2289188	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2415241	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2415242	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2415245	0.81[AMR][1000 genomes]
rs2899826	0.86[CHD][hapmap];0.87[GIH][hapmap];0.83[MEX][hapmap]
rs3985310	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs4073149	0.87[CHD][hapmap];0.87[GIH][hapmap];0.83[MEX][hapmap]
rs4128436	0.93[YRI][hapmap]
rs4261483	0.82[ASN][1000 genomes]
rs4646421	0.83[TSI][hapmap]
rs4886601	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4887150	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs4887151	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4887152	0.89[CEU][hapmap]
rs4887154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4887155	0.82[ASN][1000 genomes]
rs4887159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4887160	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4887162	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4887163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4887166	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58473469	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6495102	0.82[EUR][1000 genomes]
rs6495104	0.84[GIH][hapmap]
rs6495105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6495106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs6495112	0.87[GIH][hapmap]
rs6495115	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6495116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap]
rs6495117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6495118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6495119	0.87[GIH][hapmap]
rs6495121	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.96[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap]
rs7161903	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7161990	0.87[CHD][hapmap];0.87[GIH][hapmap];0.83[MEX][hapmap]
rs7163775	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs7166656	0.82[ASN][1000 genomes]
rs7166701	0.90[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs7167655	0.81[ASN][1000 genomes]
rs7171838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7173006	0.82[ASN][1000 genomes]
rs7176095	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7176491	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7177407	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7178568	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74025818	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7497036	0.87[GIH][hapmap]
rs7497342	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs750608	0.84[CHD][hapmap];0.83[MEX][hapmap]
rs8023479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8023865	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8026181	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8026923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8027066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8028163	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8028430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8029116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8029215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8036030	0.86[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs8036636	0.84[AMR][1000 genomes]
rs8037211	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8037714	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8040120	0.87[GIH][hapmap]
rs8041030	0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8041807	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8041889	0.83[EUR][1000 genomes]
rs8042832	0.82[ASN][1000 genomes]
rs8043082	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9635320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9672559	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap]

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	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1044797	chr15:74773661-74819852	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8040745	SEMA7A	cis	cerebellum	SCAN
rs8040745	RPLP1	cis	parietal	SCAN
rs8040745	ARIH1	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74804800-74821000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:74815400-74818400	Enhancers	Placenta	Placenta
3	chr15:74815400-74818800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:74815400-74819400	Enhancers	HMEC	breast
5	chr15:74815600-74818200	Weak transcription	K562	blood
6	chr15:74815800-74819400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:74815800-74819600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:74816000-74818600	Enhancers	Hela-S3	cervix
9	chr15:74817000-74822800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:74817400-74818400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr15:74817400-74818800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:74817400-74818800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr15:74817400-74818800	Enhancers	HUVEC	blood vessel
14	chr15:74817400-74819000	Enhancers	NH-A	brain
15	chr15:74817600-74818400	Enhancers	Liver	Liver
16	chr15:74817600-74818400	Enhancers	Gastric	stomach
17	chr15:74817600-74818600	Enhancers	Stomach Mucosa	stomach
18	chr15:74817600-74818600	Enhancers	A549	lung
19	chr15:74817600-74819000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:74817600-74819000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:74817600-74819400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:74817800-74818200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:74817800-74818200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:74817800-74818200	Enhancers	Pancreas	Pancrea
25	chr15:74817800-74818400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr15:74817800-74818400	Flanking Active TSS	NHEK	skin
27	chr15:74817800-74818600	Enhancers	NHDF-Ad	bronchial
28	chr15:74817800-74818600	Enhancers	NHLF	lung
29	chr15:74817800-74818800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:74817800-74818800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:74817800-74818800	Enhancers	Osteobl	bone
32	chr15:74818000-74818400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr15:74818000-74818600	Enhancers	HSMM	muscle
34	chr15:74818000-74822400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr15:74818000-74822400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr15:74818000-74823400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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