Variant report

Variant	rs61939594
Chromosome Location	chr7:114633132-114633133
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10506132	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11610886	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809435	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812262	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812749	0.82[ASN][1000 genomes]
rs12812750	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12813151	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813496	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12816546	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817133	0.90[ASN][1000 genomes]
rs12818844	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12827197	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829888	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1349257	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562728	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17467376	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2218762	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388174	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388175	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388178	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388179	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2892450	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2892451	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3914597	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4254106	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4411311	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4438082	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308161	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308278	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952765	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954830	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7958118	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967295	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968458	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7968566	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970850	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972590	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976609	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925827	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925828	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925829	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034091	chr7:113732770-114688008	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv539091	chr7:113732770-114688008	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:114613000-114636000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr7:114613000-114646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:114613000-114648600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:114613000-114648600	Weak transcription	Lung	lung
5	chr7:114613400-114655600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:114613600-114646000	Weak transcription	Ovary	ovary
7	chr7:114615600-114637000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:114618800-114649400	Weak transcription	Fetal Kidney	kidney
9	chr7:114619000-114648600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:114620400-114635800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:114620400-114635800	Weak transcription	Left Ventricle	heart
12	chr7:114620400-114648600	Weak transcription	Aorta	Aorta
13	chr7:114620600-114642000	Weak transcription	Fetal Stomach	stomach
14	chr7:114620600-114642600	Weak transcription	Spleen	Spleen
15	chr7:114621200-114635800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:114622400-114636000	Weak transcription	Liver	Liver
17	chr7:114623000-114636000	Weak transcription	Fetal Thymus	thymus
18	chr7:114623200-114636400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:114623200-114648600	Weak transcription	Primary B cells from cord blood	blood
20	chr7:114623600-114658800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:114624200-114635800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr7:114624400-114636000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:114625600-114648400	Weak transcription	Fetal Lung	lung
24	chr7:114625800-114636200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:114625800-114640400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr7:114626600-114642800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:114627000-114636000	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:114627000-114636200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr7:114627200-114635800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr7:114627200-114636000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr7:114628600-114649600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:114628800-114644400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:114628800-114647400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:114629000-114636000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:114629200-114635800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:114629200-114637600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:114629200-114642600	Weak transcription	Psoas Muscle	Psoas
38	chr7:114629200-114645200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:114629200-114648000	Weak transcription	Colon Smooth Muscle	Colon
40	chr7:114629200-114648400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:114629200-114657200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:114629400-114635400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:114629400-114635800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:114629400-114635800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:114629400-114635800	Weak transcription	Adipose Nuclei	Adipose
46	chr7:114629400-114637600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:114629400-114644200	Weak transcription	HMEC	breast
48	chr7:114629400-114644200	Weak transcription	NHEK	skin
49	chr7:114629400-114648200	Weak transcription	NHDF-Ad	bronchial
50	chr7:114629800-114636200	Weak transcription	Muscle Satellite Cultured Cells	--

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