Variant report

Variant	rs4947873
Chromosome Location	chr7:50848622-50848623
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	chr7:50847233-50848628	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50794558..50797100-chr7:50848340..50850601,2	K562	blood:

Variant related genes	Relation type
GRB10	TF binding region
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10239980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272063	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10278363	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12665949	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12718928	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2051893	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2051894	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051897	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2301925	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947861	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4947888	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6593182	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7783789	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7794164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794299	0.80[AMR][1000 genomes]
rs7808929	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7809357	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7809362	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538835	chr7:50839656-50867735	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv824092	chr7:50846084-50865531	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50816200-50849600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:50822000-50849800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:50822800-50850200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:50823600-50849200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:50823600-50849200	Weak transcription	Fetal Lung	lung
6	chr7:50829800-50849400	Weak transcription	Osteobl	bone
7	chr7:50833200-50850200	Weak transcription	HSMM	muscle
8	chr7:50835200-50849000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:50835400-50849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:50835800-50849800	Weak transcription	HUVEC	blood vessel
11	chr7:50836000-50849000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:50837800-50849800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:50838000-50850200	Weak transcription	HSMMtube	muscle
14	chr7:50838400-50849200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:50838800-50849400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:50839200-50850200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:50839400-50848800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:50839800-50848800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:50839800-50850800	Weak transcription	Fetal Heart	heart
20	chr7:50840200-50848800	Weak transcription	Brain Germinal Matrix	brain
21	chr7:50843600-50849000	Weak transcription	Ovary	ovary
22	chr7:50843600-50849800	Weak transcription	Aorta	Aorta
23	chr7:50843800-50848800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:50843800-50848800	Weak transcription	Spleen	Spleen
25	chr7:50844000-50848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:50845000-50851600	Weak transcription	K562	blood
27	chr7:50845600-50850200	Enhancers	Liver	Liver
28	chr7:50846000-50849000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:50846000-50849000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:50846200-50848800	Enhancers	Brain Hippocampus Middle	brain
31	chr7:50846200-50849000	Enhancers	Pancreas	Pancrea
32	chr7:50846200-50849200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr7:50846400-50849400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:50846600-50848800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:50846600-50848800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:50846600-50849000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:50847000-50850600	Weak transcription	Small Intestine	intestine
38	chr7:50847200-50849000	Enhancers	Brain Substantia Nigra	brain
39	chr7:50847200-50849400	Enhancers	Lung	lung
40	chr7:50847200-50849800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:50847400-50848800	Enhancers	Fetal Muscle Leg	muscle
42	chr7:50847400-50849200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr7:50847400-50851000	Enhancers	Placenta	Placenta
44	chr7:50847600-50848800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:50847600-50849000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:50847600-50849600	Enhancers	Psoas Muscle	Psoas
47	chr7:50847600-50849600	Enhancers	Right Atrium	heart
48	chr7:50847600-50849800	Enhancers	Left Ventricle	heart
49	chr7:50847600-50850200	Weak transcription	Gastric	stomach
50	chr7:50847800-50848800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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