Variant report

Variant	rs1157
Chromosome Location	chr3:105295461-105295462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10433370	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10433371	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10433372	0.97[ASN][1000 genomes]
rs10433373	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1044243	1.00[YRI][hapmap]
rs10511245	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12695120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13315918	1.00[YRI][hapmap]
rs13320956	1.00[YRI][hapmap]
rs13325976	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs17181561	1.00[YRI][hapmap]
rs17181701	1.00[YRI][hapmap]
rs17189101	1.00[YRI][hapmap]
rs17189643	1.00[YRI][hapmap]
rs17189711	1.00[YRI][hapmap]
rs17190251	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2291374	1.00[YRI][hapmap]
rs3910551	0.87[MKK][hapmap]
rs41380949	1.00[MKK][hapmap]
rs62262973	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62262974	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62262976	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs62262977	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62262978	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62262979	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs62262980	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs62262981	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs62262982	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs62262983	0.96[ASN][1000 genomes]
rs62262984	0.96[ASN][1000 genomes]
rs62262985	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs62262986	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs62262987	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs62262988	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs62262989	0.96[ASN][1000 genomes]
rs6790496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72989999	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72991816	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs72991818	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs72991822	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7610031	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs7633779	1.00[YRI][hapmap]
rs7645474	1.00[YRI][hapmap]
rs9288807	1.00[YRI][hapmap]
rs9288812	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9812171	0.95[ASN][1000 genomes]
rs9812640	0.95[ASN][1000 genomes]
rs9828587	1.00[YRI][hapmap]
rs9829190	1.00[YRI][hapmap]
rs9832489	1.00[YRI][hapmap]
rs9838585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9839346	1.00[YRI][hapmap]
rs9841699	1.00[YRI][hapmap]
rs9842772	1.00[YRI][hapmap]
rs9849713	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9850355	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9850716	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9850791	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9851399	1.00[YRI][hapmap]
rs9854039	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9854708	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9855810	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs9856106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9859785	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs9862725	1.00[YRI][hapmap]
rs9876895	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs9878315	1.00[YRI][hapmap]
rs9990253	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525071	chr3:105004853-105409321	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv534224	chr3:105141696-105404293	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv829651	chr3:105203424-105402136	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv460811	chr3:105212993-105316769	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv591240	chr3:105212993-105316769	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1012669	chr3:105290140-105321201	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	miRNA target site	n/a	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105221400-105300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:105260800-105297000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:105260800-105299800	Weak transcription	Pancreas	Pancrea
4	chr3:105268400-105297800	Weak transcription	NHLF	lung
5	chr3:105271600-105297000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:105271600-105303000	Weak transcription	Aorta	Aorta
7	chr3:105272200-105312800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:105272400-105302800	Weak transcription	NHEK	skin
9	chr3:105273200-105295800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:105273200-105303000	Weak transcription	HMEC	breast
11	chr3:105273400-105297600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr3:105273400-105297600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:105273400-105299800	Weak transcription	NHDF-Ad	bronchial
14	chr3:105273800-105297400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:105274000-105303000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:105277200-105299200	Weak transcription	Brain Hippocampus Middle	brain
17	chr3:105278600-105297000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:105278600-105297400	Weak transcription	GM12878-XiMat	blood
19	chr3:105284000-105295600	Weak transcription	Fetal Intestine Small	intestine
20	chr3:105285200-105295600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:105286400-105297600	Weak transcription	HUVEC	blood vessel
22	chr3:105288600-105297000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:105289400-105296000	Strong transcription	Osteobl	bone
24	chr3:105291200-105297200	Weak transcription	Primary B cells from cord blood	blood
25	chr3:105291400-105295800	Weak transcription	Brain Substantia Nigra	brain
26	chr3:105291400-105297000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:105291400-105297800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:105291600-105297600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:105292000-105297200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr3:105292000-105303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:105292200-105297800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:105292400-105296600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:105292600-105296200	Strong transcription	NH-A	brain
34	chr3:105292800-105295600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:105293400-105296600	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr3:105295200-105295800	Weak transcription	HSMM	muscle
37	chr3:105295200-105296200	Strong transcription	Liver	Liver
38	chr3:105295200-105296800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:105295400-105296200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr3:105295400-105296800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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