Variant report

Variant	rs13195905
Chromosome Location	chr6:145092040-145092041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10499237	0.83[YRI][hapmap]
rs11546879	0.82[JPT][hapmap]
rs13198393	0.91[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs13202460	0.89[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs13204600	0.81[AMR][1000 genomes]
rs13208243	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs13210728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13215581	0.90[CEU][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13218938	0.81[AMR][1000 genomes]
rs2297844	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs2297845	0.95[CHB][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs2297846	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4131501	0.91[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs4143180	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4476850	0.91[CHB][hapmap];0.87[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4631314	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9321993	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9373428	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9373431	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs9376855	0.92[EUR][1000 genomes]
rs9376858	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9386082	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9386084	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9390219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9399506	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9403600	1.00[YRI][hapmap]
rs9403603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9403610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9403616	0.82[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer 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
2	nsv1032838	chr6:144978504-145110121	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830833	chr6:145001310-145201143	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1021098	chr6:145017386-145106441	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145011800-145096600	Weak transcription	Thymus	Thymus
2	chr6:145040000-145094600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:145040000-145114600	Weak transcription	NHLF	lung
4	chr6:145046000-145122200	Weak transcription	Colonic Mucosa	Colon
5	chr6:145047600-145096600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:145047600-145115000	Weak transcription	Esophagus	oesophagus
7	chr6:145047600-145115000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:145049400-145098400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr6:145054000-145095600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:145054200-145093400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr6:145054400-145100000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:145059600-145096600	Weak transcription	Lung	lung
13	chr6:145059600-145097400	Weak transcription	Spleen	Spleen
14	chr6:145059800-145096600	Weak transcription	Fetal Stomach	stomach
15	chr6:145066200-145126200	Weak transcription	Stomach Mucosa	stomach
16	chr6:145067800-145115800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr6:145068800-145115000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:145069600-145093400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:145069800-145094200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:145069800-145101800	Weak transcription	Aorta	Aorta
21	chr6:145070000-145092600	Weak transcription	Fetal Intestine Small	intestine
22	chr6:145070200-145094000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:145070600-145094400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:145072200-145101800	Weak transcription	Fetal Intestine Large	intestine
25	chr6:145072600-145094800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:145072800-145093600	Weak transcription	Placenta	Placenta
27	chr6:145073200-145105400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:145074400-145094000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr6:145074600-145094400	Weak transcription	Osteobl	bone
30	chr6:145075000-145108800	Strong transcription	Primary B cells from cord blood	blood
31	chr6:145075600-145094400	Weak transcription	GM12878-XiMat	blood
32	chr6:145076800-145095000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:145078000-145093400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:145080000-145115000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:145080200-145094200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:145080200-145094400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:145080200-145094600	Weak transcription	HUVEC	blood vessel
38	chr6:145084000-145094200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr6:145084000-145094400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr6:145084000-145155800	Weak transcription	Right Ventricle	heart
41	chr6:145084200-145101000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:145084600-145094400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:145085000-145094200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:145085200-145094800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:145085400-145119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:145085800-145134800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:145086800-145115000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:145087200-145093600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:145087400-145115000	Weak transcription	Gastric	stomach
50	chr6:145087800-145093200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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