Variant report

Variant	rs2267543
Chromosome Location	chr8:91051625-91051626
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91050918..91052420-chr8:91053013..91055805,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104325	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10092098	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10104321	0.90[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1011682	0.90[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1011683	0.86[CEU][hapmap];0.81[CHD][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs10216992	0.82[EUR][1000 genomes]
rs1061302	0.90[CEU][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.88[YRI][hapmap]
rs1063045	0.90[CEU][hapmap];0.82[CHD][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap]
rs1063053	0.80[JPT][hapmap]
rs1063054	0.85[JPT][hapmap]
rs10755930	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10956375	0.90[CEU][hapmap]
rs10956431	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11778638	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11782032	0.90[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs11784904	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12547667	0.82[EUR][1000 genomes]
rs12549107	0.90[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12679577	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13264478	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13265193	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13275276	0.90[CEU][hapmap];0.88[YRI][hapmap]
rs13278453	0.90[CEU][hapmap]
rs13312935	0.90[CEU][hapmap];0.88[YRI][hapmap]
rs1800645	0.90[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1805790	0.90[CEU][hapmap];0.88[YRI][hapmap]
rs1805794	0.90[CEU][hapmap];0.82[CHD][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.81[YRI][hapmap]
rs1805795	0.90[CEU][hapmap];0.86[YRI][hapmap]
rs1805797	0.90[CEU][hapmap];0.82[CHD][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap]
rs1805799	0.90[CEU][hapmap];0.82[CHD][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap];0.88[YRI][hapmap]
rs1805800	0.90[CEU][hapmap];0.88[YRI][hapmap]
rs1805804	0.81[EUR][1000 genomes]
rs1805808	0.86[CEU][hapmap];0.81[CHD][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs1805818	0.90[CEU][hapmap];0.82[CHD][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap]
rs1805844	0.90[CEU][hapmap]
rs1805865	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805870	0.90[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805876	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1805877	0.85[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1881467	0.85[JPT][hapmap]
rs1881468	0.85[JPT][hapmap]
rs2021881	0.85[JPT][hapmap]
rs2021882	0.85[JPT][hapmap]
rs2072656	0.86[EUR][1000 genomes]
rs2073635	0.90[CEU][hapmap];0.80[CHD][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap]
rs2074593	0.87[EUR][1000 genomes]
rs2074596	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2091887	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2097825	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs2107465	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2142093	0.80[CEU][hapmap]
rs2142094	0.80[CEU][hapmap]
rs2142097	0.85[JPT][hapmap]
rs2234744	0.90[CEU][hapmap];0.82[CHD][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.83[TSI][hapmap];0.88[YRI][hapmap]
rs2246022	0.85[JPT][hapmap]
rs2280780	0.90[CEU][hapmap]
rs2308962	0.90[CEU][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap]
rs2339025	0.90[CEU][hapmap];0.81[YRI][hapmap]
rs2697676	0.85[JPT][hapmap]
rs2735383	0.85[JPT][hapmap]
rs2735384	0.90[JPT][hapmap]
rs2735385	0.85[JPT][hapmap]
rs2735386	0.85[JPT][hapmap]
rs2735387	0.80[JPT][hapmap]
rs2735388	0.80[JPT][hapmap]
rs3026276	0.81[EUR][1000 genomes]
rs34394839	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs3736639	0.90[CEU][hapmap]
rs4961166	0.90[CEU][hapmap];0.82[CHD][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.85[TSI][hapmap];0.88[YRI][hapmap];0.85[EUR][1000 genomes]
rs4961167	0.87[EUR][1000 genomes]
rs61427172	0.81[EUR][1000 genomes]
rs6470523	0.90[CEU][hapmap];0.88[YRI][hapmap]
rs6470524	0.90[CEU][hapmap];0.88[YRI][hapmap]
rs6470668	0.90[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6470671	0.90[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6470713	0.90[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6987873	0.90[CEU][hapmap]
rs6988013	0.85[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.81[EUR][1000 genomes]
rs6990969	0.90[CEU][hapmap]
rs6991811	0.90[CEU][hapmap];0.88[YRI][hapmap]
rs6993054	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs6994202	0.90[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6999227	0.86[CHB][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes]
rs7006322	0.90[CEU][hapmap]
rs7011299	0.90[CEU][hapmap];0.88[YRI][hapmap];0.87[EUR][1000 genomes]
rs7012846	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7018118	0.90[CEU][hapmap];0.88[YRI][hapmap]
rs71528733	0.81[EUR][1000 genomes]
rs71528739	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72671845	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs741777	0.90[CEU][hapmap]
rs741778	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7459577	0.90[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7459846	0.80[CEU][hapmap]
rs7461859	0.90[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7463278	0.90[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7463923	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7815279	0.90[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7816839	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7821408	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7822272	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs7822950	0.87[EUR][1000 genomes]
rs7829246	0.90[CEU][hapmap]
rs926092	0.90[CEU][hapmap];0.82[CHD][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.85[TSI][hapmap];0.88[YRI][hapmap];0.85[EUR][1000 genomes]
rs9297784	0.84[ASN][1000 genomes]
rs9649958	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9650096	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9792335	0.90[CEU][hapmap]
rs9995	0.85[JPT][hapmap]

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	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
2	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2267543	CALB1	cis	cerebellum	SCAN
rs2267543	DECR1	cis	cerebellum	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91015600-91066200	Weak transcription	Hela-S3	cervix
2	chr8:91018600-91065400	Weak transcription	HMEC	breast
3	chr8:91019000-91057000	Weak transcription	Fetal Brain Female	brain
4	chr8:91027600-91066800	Weak transcription	NHEK	skin
5	chr8:91029400-91066000	Weak transcription	HUVEC	blood vessel
6	chr8:91030000-91057400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:91032000-91051800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:91032000-91057000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:91032000-91064000	Weak transcription	Fetal Brain Male	brain
10	chr8:91032000-91064800	Weak transcription	NHLF	lung
11	chr8:91032200-91057400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:91032400-91054400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:91033800-91064400	Weak transcription	NH-A	brain
14	chr8:91034200-91056000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr8:91035000-91057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:91035400-91057600	Weak transcription	Gastric	stomach
17	chr8:91040200-91059200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:91040800-91057000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr8:91041200-91057400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr8:91041400-91058800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr8:91042600-91056400	Weak transcription	Right Ventricle	heart
22	chr8:91042800-91051800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:91042800-91057000	Weak transcription	Spleen	Spleen
24	chr8:91043000-91051800	Weak transcription	Colonic Mucosa	Colon
25	chr8:91043000-91057000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:91043000-91057000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:91043200-91051800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:91046200-91056200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:91046800-91059200	Strong transcription	Adipose Nuclei	Adipose
30	chr8:91047000-91057000	Weak transcription	HepG2	liver
31	chr8:91047200-91058800	Strong transcription	Primary B cells from cord blood	blood
32	chr8:91047600-91052800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr8:91047600-91057000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:91047800-91052600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr8:91048200-91052200	Strong transcription	GM12878-XiMat	blood
36	chr8:91048200-91052400	Strong transcription	Left Ventricle	heart
37	chr8:91048200-91052600	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:91048200-91052600	Strong transcription	Dnd41	blood
39	chr8:91048200-91052800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr8:91048200-91053000	Strong transcription	Fetal Intestine Large	intestine
41	chr8:91048200-91053000	Strong transcription	Fetal Thymus	thymus
42	chr8:91048200-91053000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr8:91048200-91053000	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:91048200-91053200	Strong transcription	Ovary	ovary
45	chr8:91048200-91056400	Strong transcription	Fetal Lung	lung
46	chr8:91048200-91056800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:91048200-91057400	Weak transcription	Brain Germinal Matrix	brain
48	chr8:91048200-91058600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr8:91048200-91058600	Strong transcription	Stomach Smooth Muscle	stomach
50	chr8:91048200-91058800	Strong transcription	Duodenum Mucosa	Duodenum

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