Variant report

Variant	rs7166775
Chromosome Location	chr15:43042690-43042691
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43042004..43045508-chr15:43046491..43050155,3	K562	blood:
2	chr15:43033733..43038217-chr15:43039920..43044631,5	K562	blood:
3	chr15:43038489..43040634-chr15:43041154..43044012,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10518779	0.86[CEU][hapmap]
rs11070374	1.00[YRI][hapmap]
rs1206698	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs12102055	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12594483	1.00[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs12594855	0.94[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs12594951	0.87[ASW][hapmap]
rs12905592	0.92[AFR][1000 genomes]
rs12906497	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12907826	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12912064	0.88[EUR][1000 genomes]
rs12917018	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12917189	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16957091	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16957104	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16957168	0.81[CEU][hapmap]
rs1705356	0.93[MEX][hapmap]
rs1915241	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1995939	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.95[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2136900	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs2136901	0.89[ASN][1000 genomes]
rs2280048	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2305084	0.90[CEU][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs2412740	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2412741	0.95[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28479391	0.84[ASN][1000 genomes]
rs28549876	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28562951	0.85[EUR][1000 genomes]
rs3099758	0.93[MEX][hapmap]
rs3199486	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.95[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34191150	0.92[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs35616173	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs35738819	0.89[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs3742987	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3742988	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4265781	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4923950	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4924690	0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4994112	1.00[ASW][hapmap];0.81[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs623271	0.86[MEX][hapmap]
rs6493060	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs6493061	1.00[ASW][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs6493063	0.92[EUR][1000 genomes]
rs6493066	0.82[EUR][1000 genomes]
rs6493067	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs6493068	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap]
rs67391479	0.86[EUR][1000 genomes]
rs7163030	0.87[GIH][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs7166373	0.95[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7166632	0.82[EUR][1000 genomes]
rs7167392	0.90[CEU][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs7167802	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs7168835	1.00[YRI][hapmap]
rs7169009	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7169202	1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7174041	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7175582	0.90[CEU][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.89[EUR][1000 genomes]
rs7182141	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs7182753	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs731984	1.00[ASW][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8026233	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8027427	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8028785	0.86[CEU][hapmap]
rs8030587	1.00[ASW][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs8034447	1.00[ASW][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8034664	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8035752	1.00[ASW][hapmap]
rs8036096	1.00[ASW][hapmap]
rs8043472	1.00[ASW][hapmap];0.83[GIH][hapmap];0.85[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9269	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs9783683	1.00[YRI][hapmap]
rs9783713	0.89[EUR][1000 genomes]
rs9806175	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs9919994	0.86[EUR][1000 genomes]
rs9920182	0.86[CEU][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap]
rs9920202	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
3	nsv457122	chr15:42948862-43062548	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv569238	chr15:42948862-43062548	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS 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	9 gene(s)	inside rSNPs	diseases
5	nsv977054	chr15:43015821-43171355	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS 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	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7166775	SPTBN5	cis	cerebellum	SCAN
rs7166775	BUB1B	cis	parietal	SCAN
rs7166775	CDAN1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43029400-43051200	Weak transcription	Spleen	Spleen
2	chr15:43029600-43045000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:43029800-43043200	Weak transcription	Left Ventricle	heart
4	chr15:43029800-43043800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:43029800-43044000	Weak transcription	Right Ventricle	heart
6	chr15:43029800-43044200	Weak transcription	Fetal Brain Male	brain
7	chr15:43029800-43047600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:43029800-43047800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:43029800-43050800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:43029800-43051200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:43029800-43051200	Weak transcription	Esophagus	oesophagus
12	chr15:43029800-43051200	Weak transcription	Gastric	stomach
13	chr15:43029800-43051400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:43029800-43071000	Weak transcription	Pancreas	Pancrea
15	chr15:43030000-43042800	Weak transcription	Fetal Brain Female	brain
16	chr15:43030000-43043000	Weak transcription	Stomach Mucosa	stomach
17	chr15:43030000-43043200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr15:43030000-43043400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr15:43030000-43043400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr15:43030000-43043600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:43030000-43043600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:43030000-43043600	Weak transcription	Aorta	Aorta
23	chr15:43030000-43043600	Weak transcription	Brain Germinal Matrix	brain
24	chr15:43030000-43043800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:43030000-43043800	Weak transcription	Thymus	Thymus
26	chr15:43030000-43044000	Weak transcription	NHEK	skin
27	chr15:43030000-43044200	Weak transcription	HSMM	muscle
28	chr15:43030000-43044200	Weak transcription	Osteobl	bone
29	chr15:43030000-43044400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr15:43030000-43044400	Weak transcription	Colon Smooth Muscle	Colon
31	chr15:43030000-43045400	Weak transcription	NHLF	lung
32	chr15:43030000-43047800	Weak transcription	HMEC	breast
33	chr15:43030000-43051000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr15:43030000-43051400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr15:43030000-43051600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr15:43030000-43053200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr15:43030000-43053200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr15:43030000-43053800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr15:43030000-43066200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr15:43030000-43067200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr15:43030000-43093600	Weak transcription	Colonic Mucosa	Colon
42	chr15:43030200-43042800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:43030200-43043800	Weak transcription	Fetal Intestine Large	intestine
44	chr15:43030200-43043800	Weak transcription	Fetal Kidney	kidney
45	chr15:43030200-43044000	Weak transcription	HepG2	liver
46	chr15:43030200-43044200	Weak transcription	K562	blood
47	chr15:43030200-43044200	Weak transcription	NHDF-Ad	bronchial
48	chr15:43030200-43052800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr15:43034600-43043400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr15:43036600-43044000	Weak transcription	Fetal Heart	heart

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