Variant report

Variant	rs61747994
Chromosome Location	chr3:56653427-56653428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs11130522	0.92[EUR][1000 genomes]
rs1388252	0.92[EUR][1000 genomes]
rs1491162	0.92[EUR][1000 genomes]
rs1491167	0.89[EUR][1000 genomes]
rs17216678	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17216712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17216754	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17288866	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17288873	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2306930	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2306931	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41276465	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41276467	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41276469	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4292200	0.83[EUR][1000 genomes]
rs56758331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57861120	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58457441	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59835031	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59897254	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60606369	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61456176	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61654248	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62249737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62251182	0.92[EUR][1000 genomes]
rs62251183	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251186	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62251188	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251190	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251192	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62251193	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251197	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251228	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251229	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251230	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251233	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62251235	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251238	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251239	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251240	0.81[EUR][1000 genomes]
rs62251241	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251244	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251245	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62254329	0.92[EUR][1000 genomes]
rs62255965	0.92[EUR][1000 genomes]
rs62255966	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs62255967	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62255969	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62255970	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62255971	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62255972	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62255973	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62255974	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62255977	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62255978	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62255980	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62255981	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62256011	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62256013	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62256014	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62256017	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62256018	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62256019	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62256020	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62256022	0.95[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62256023	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6782254	0.89[EUR][1000 genomes]
rs6788512	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6802548	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6810125	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73075746	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73081816	0.92[EUR][1000 genomes]
rs73081836	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73081850	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73083715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73083725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7635945	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs955247	1.00[EUR][1000 genomes];0.82[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	nsv460557	chr3:56594735-56661320	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv590362	chr3:56594735-56661320	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 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	chr3:56626400-56656200	Weak transcription	Stomach Mucosa	stomach
2	chr3:56630000-56654400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:56640800-56664200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:56640800-56695400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:56642800-56713400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:56644200-56664000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:56644400-56686400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:56644600-56655800	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr3:56644600-56665600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:56644600-56668600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:56644800-56655400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:56644800-56656000	Strong transcription	Fetal Muscle Leg	muscle
13	chr3:56644800-56669800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:56644800-56708200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr3:56645200-56657000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:56645400-56653800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:56645400-56667200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:56645400-56705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:56645600-56656000	Strong transcription	Fetal Intestine Large	intestine
20	chr3:56645600-56656000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr3:56645600-56664800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:56645600-56665800	Strong transcription	Hela-S3	cervix
23	chr3:56645800-56662000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr3:56645800-56663800	Strong transcription	HSMM	muscle
25	chr3:56646000-56662800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:56646200-56659200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:56646600-56669000	Weak transcription	Small Intestine	intestine
28	chr3:56646800-56658800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:56646800-56659200	Weak transcription	Fetal Intestine Small	intestine
30	chr3:56646800-56673600	Weak transcription	Right Ventricle	heart
31	chr3:56647000-56658400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:56647000-56662000	Weak transcription	Esophagus	oesophagus
33	chr3:56647000-56663000	Strong transcription	Liver	Liver
34	chr3:56647000-56664000	Strong transcription	Adipose Nuclei	Adipose
35	chr3:56647000-56666800	Weak transcription	Lung	lung
36	chr3:56647000-56672200	Weak transcription	Gastric	stomach
37	chr3:56647200-56662600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr3:56647200-56664000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr3:56647200-56664000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr3:56647400-56655400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr3:56647400-56663800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:56647400-56664000	Strong transcription	Primary T cells from cord blood	blood
43	chr3:56647400-56664200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:56647400-56664400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:56647400-56707400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr3:56647400-56707800	Strong transcription	Fetal Thymus	thymus
47	chr3:56647600-56655400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:56647600-56655400	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr3:56647600-56662400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr3:56647600-56663400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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