Variant report

Variant	rs3815873
Chromosome Location	chr8:126041215-126041216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126041136..126043369-chr8:126049940..126052730,2	MCF-7	breast:
2	chr8:126034079..126036692-chr8:126041043..126043617,4	MCF-7	breast:
3	chr8:126040564..126044371-chr8:126078561..126080498,4	MCF-7	breast:

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs1004350	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1004676	1.00[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10089455	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089574	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089792	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092363	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095627	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105624	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10107956	1.00[MEX][hapmap]
rs10113495	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505449	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10505450	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10505451	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985488	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11985490	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11985491	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11985518	0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11986264	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986339	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988640	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989471	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11989475	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11993043	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11993478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993487	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996035	0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11996796	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11996868	0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16900175	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900180	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.96[MKK][hapmap];0.90[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900215	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900221	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900222	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900228	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900250	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900266	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900269	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900307	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900364	0.82[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16900368	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16900369	0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1802526	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009959	0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2272682	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2288311	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2293985	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293987	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303521	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303526	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303528	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303529	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303530	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2384917	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28386832	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28394364	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28447527	0.85[ASN][1000 genomes]
rs28453073	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28465401	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28489055	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28498361	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28546275	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28610111	0.94[ASN][1000 genomes]
rs28612575	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28624116	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28633402	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28653090	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28685667	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28702720	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28714511	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2891636	0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2891655	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736666	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3736667	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763594	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763596	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765213	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765214	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3793445	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3793446	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3860841	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3860842	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4355790	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4421364	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4421365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4425776	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4458896	0.85[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4570178	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4570179	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57162779	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57431630	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57701401	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61506267	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470329	1.00[ASN][1000 genomes]
rs6470330	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470331	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470332	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6470333	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470334	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6470335	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6651231	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6651232	1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6980470	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6981141	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6981156	0.85[CHB][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6981164	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981781	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6982708	0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989548	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997862	1.00[JPT][hapmap]
rs7002684	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002783	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72497351	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73704517	1.00[ASN][1000 genomes]
rs7465254	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7812319	0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7813244	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7817303	0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7831848	0.82[CHB][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7832481	0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7844453	1.00[JPT][hapmap]
rs9297710	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9693702	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9792114	0.92[EUR][1000 genomes];0.88[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126013400-126042600	Weak transcription	Right Ventricle	heart
2	chr8:126013600-126052200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:126014600-126044000	Weak transcription	Stomach Mucosa	stomach
4	chr8:126015400-126098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:126016000-126041400	Strong transcription	Liver	Liver
6	chr8:126019600-126071800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:126023600-126099000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr8:126024600-126043200	Weak transcription	Fetal Brain Male	brain
9	chr8:126027600-126044400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:126028200-126044800	Strong transcription	Primary B cells from cord blood	blood
11	chr8:126028200-126072000	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:126028400-126066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:126028600-126097400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:126028800-126041800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:126028800-126072200	Strong transcription	Adipose Nuclei	Adipose
16	chr8:126029400-126044000	Weak transcription	Pancreas	Pancrea
17	chr8:126029600-126066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:126029800-126097400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr8:126029800-126103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:126030600-126042200	Weak transcription	Psoas Muscle	Psoas
21	chr8:126030600-126049800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr8:126031200-126058800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:126031800-126046400	Weak transcription	Colonic Mucosa	Colon
24	chr8:126031800-126049800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:126032000-126043200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:126032000-126043200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:126032000-126044200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:126032000-126050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:126032800-126050600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr8:126033400-126044000	Weak transcription	HepG2	liver
31	chr8:126034400-126044200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:126036400-126041600	Weak transcription	NHEK	skin
33	chr8:126036400-126042400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:126036400-126043000	Weak transcription	Aorta	Aorta
35	chr8:126036400-126043800	Weak transcription	Esophagus	oesophagus
36	chr8:126036400-126043800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr8:126036400-126044000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr8:126036400-126051200	Weak transcription	Small Intestine	intestine
39	chr8:126036600-126042400	Weak transcription	HSMMtube	muscle
40	chr8:126036600-126042800	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:126036600-126043800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:126036600-126043800	Weak transcription	Hela-S3	cervix
43	chr8:126036800-126042400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:126036800-126043600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:126036800-126044000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr8:126036800-126046800	Weak transcription	K562	blood
47	chr8:126036800-126050400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:126037000-126043800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:126037200-126041800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:126037200-126043800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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