Variant report

Variant	rs4947714
Chromosome Location	chr7:50677283-50677284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50671344..50672957-chr7:50675090..50677359,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10268819	1.00[CHB][hapmap]
rs10499696	1.00[CHB][hapmap]
rs11575298	1.00[CHB][hapmap]
rs11575342	1.00[CHB][hapmap]
rs11761328	0.86[ASN][1000 genomes]
rs11770199	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11771818	1.00[CHB][hapmap]
rs11772525	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1466163	1.00[CHB][hapmap]
rs17553791	1.00[CHB][hapmap]
rs17634771	1.00[CHB][hapmap]
rs2329485	1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329486	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715129	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41298761	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4947411	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447499	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62447500	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6593030	0.82[EUR][1000 genomes]
rs6962371	1.00[CHB][hapmap]
rs7809234	1.00[CHB][hapmap]
rs7810039	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs963161	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1021753	chr7:50671350-50694457	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020791	chr7:50673666-50694457	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv606906	chr7:50673666-50694457	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50652400-50687400	Weak transcription	Right Atrium	heart
2	chr7:50654000-50680000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:50657200-50678000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:50658200-50682000	Weak transcription	Colonic Mucosa	Colon
5	chr7:50658200-50690400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:50658800-50686800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:50658800-50690000	Weak transcription	Fetal Kidney	kidney
8	chr7:50659000-50678600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:50659200-50680000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:50659200-50683600	Weak transcription	Small Intestine	intestine
11	chr7:50659800-50679000	Weak transcription	NHDF-Ad	bronchial
12	chr7:50659800-50687800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:50659800-50697200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:50660600-50688000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:50665000-50688000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:50666600-50677600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:50666600-50680400	Weak transcription	Brain Angular Gyrus	brain
18	chr7:50667000-50686200	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr7:50667200-50682000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:50667600-50681600	Weak transcription	HepG2	liver
21	chr7:50668000-50689000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:50671000-50678200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:50671200-50687400	Weak transcription	Fetal Brain Male	brain
24	chr7:50671400-50680400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:50671600-50696800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:50672200-50677800	Strong transcription	HUVEC	blood vessel
27	chr7:50672400-50678200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:50672600-50681800	Weak transcription	Fetal Heart	heart
29	chr7:50673000-50677800	Weak transcription	NHEK	skin
30	chr7:50673200-50681800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:50674000-50677800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:50674000-50679200	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:50674000-50679400	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:50674000-50679600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:50674000-50681400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:50674200-50677600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr7:50674200-50677800	Weak transcription	Aorta	Aorta
38	chr7:50674200-50677800	Weak transcription	Ovary	ovary
39	chr7:50674200-50677800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:50674200-50678000	Weak transcription	Gastric	stomach
41	chr7:50674200-50678400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:50674200-50678800	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:50674200-50679000	Weak transcription	Placenta	Placenta
44	chr7:50674200-50679600	Weak transcription	Brain Anterior Caudate	brain
45	chr7:50674200-50680000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:50674200-50680400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:50674200-50680400	Weak transcription	Brain Substantia Nigra	brain
48	chr7:50674200-50694000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:50674200-50709800	Weak transcription	Esophagus	oesophagus
50	chr7:50674400-50677600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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