Variant report

Variant	rs73131008
Chromosome Location	chr7:50675336-50675337
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:50675309-50675886	K562	blood:	n/a	n/a

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

Variant related genes	Relation type
GRB10	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10486757	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11575282	0.82[EUR][1000 genomes]
rs11575286	0.82[EUR][1000 genomes]
rs11575313	0.82[EUR][1000 genomes]
rs11575321	0.82[EUR][1000 genomes]
rs11575322	0.82[EUR][1000 genomes]
rs11575338	0.82[EUR][1000 genomes]
rs11575349	0.82[EUR][1000 genomes]
rs11575500	1.00[AFR][1000 genomes]
rs1349491	0.82[EUR][1000 genomes]
rs17544225	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2100279	0.82[EUR][1000 genomes]
rs2190499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2190500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2237439	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2299151	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2299152	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2715140	0.81[ASN][1000 genomes]
rs2876830	0.82[EUR][1000 genomes]
rs3735271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3807550	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3807551	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3807553	0.82[EUR][1000 genomes]
rs4469405	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4947710	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55834323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123220	0.81[EUR][1000 genomes]
rs73123247	0.82[EUR][1000 genomes]
rs73123249	0.82[EUR][1000 genomes]
rs73123251	0.82[EUR][1000 genomes]
rs73123254	0.82[EUR][1000 genomes]
rs73123257	0.81[EUR][1000 genomes]
rs73123261	0.82[EUR][1000 genomes]
rs73123264	0.82[EUR][1000 genomes]
rs73123266	0.82[EUR][1000 genomes]
rs73123283	0.82[EUR][1000 genomes]
rs73123285	0.82[EUR][1000 genomes]
rs73123291	0.82[EUR][1000 genomes]
rs73125208	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73125215	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73125225	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73129082	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73129084	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73129088	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73129091	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73129096	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73131006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73131013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73131015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73131078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9656664	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]

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:110 , 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	chr7:50658200-50675800	Strong transcription	HSMMtube	muscle
5	chr7:50658200-50682000	Weak transcription	Colonic Mucosa	Colon
6	chr7:50658200-50690400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:50658800-50686800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:50658800-50690000	Weak transcription	Fetal Kidney	kidney
9	chr7:50659000-50678600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:50659200-50677000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:50659200-50680000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:50659200-50683600	Weak transcription	Small Intestine	intestine
13	chr7:50659400-50675800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:50659600-50675600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:50659800-50679000	Weak transcription	NHDF-Ad	bronchial
16	chr7:50659800-50687800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:50659800-50697200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:50660000-50675600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:50660600-50688000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:50663800-50675800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:50664600-50675800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:50664800-50675800	Strong transcription	Adipose Nuclei	Adipose
23	chr7:50665000-50688000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:50666000-50675600	Strong transcription	Stomach Smooth Muscle	stomach
25	chr7:50666600-50677600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr7:50666600-50680400	Weak transcription	Brain Angular Gyrus	brain
27	chr7:50667000-50686200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:50667200-50682000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:50667600-50681600	Weak transcription	HepG2	liver
30	chr7:50668000-50689000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:50668600-50675800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:50668600-50676200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:50669000-50677200	Weak transcription	Stomach Mucosa	stomach
34	chr7:50669600-50676000	Strong transcription	Osteobl	bone
35	chr7:50670000-50676200	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:50670200-50675600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:50670600-50675400	Strong transcription	Primary T cells from cord blood	blood
38	chr7:50670600-50675600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:50670600-50675600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr7:50670600-50676200	Strong transcription	NH-A	brain
41	chr7:50670800-50675600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr7:50671000-50675600	Strong transcription	K562	blood
43	chr7:50671000-50676000	Strong transcription	Liver	Liver
44	chr7:50671000-50678200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:50671200-50676000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:50671200-50687400	Weak transcription	Fetal Brain Male	brain
47	chr7:50671400-50675800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:50671400-50676000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:50671400-50676800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:50671400-50680400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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