Variant report

Variant	rs4947886
Chromosome Location	chr7:50854893-50854894
allele	A/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	chr7:50854387-50857396	A549	lung:	n/a	n/a
2	SETDB1	chr7:50854591-50854948	U2OS	brain:	n/a	n/a
3	POLR2A	chr7:50854537-50861857	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
GRB10	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1019002	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10216232	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1024532	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1548609	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108350	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2301926	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2301927	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2329492	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2529400	0.83[AMR][1000 genomes]
rs2715102	0.83[AMR][1000 genomes]
rs2715105	0.83[AMR][1000 genomes]
rs2715118	0.83[AMR][1000 genomes]
rs3800999	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4947432	0.90[AMR][1000 genomes]
rs4947444	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4947446	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4947804	0.83[AMR][1000 genomes]
rs4947835	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4947836	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4947837	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4947842	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4947866	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593140	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6593142	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6593171	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6945302	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6973119	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6978627	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs757775	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7783329	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788180	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs962508	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs990358	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50848000-50855200	Weak transcription	Hela-S3	cervix
2	chr7:50850800-50855400	Enhancers	Liver	Liver
3	chr7:50850800-50858600	Weak transcription	Aorta	Aorta
4	chr7:50851000-50856000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:50851000-50859000	Weak transcription	NHLF	lung
6	chr7:50851200-50855200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:50851200-50855600	Weak transcription	Primary T cells from cord blood	blood
8	chr7:50851200-50857000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:50851400-50855200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:50851400-50857800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:50851400-50858200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:50851600-50856000	Weak transcription	A549	lung
13	chr7:50851600-50857600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:50851600-50857600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:50851600-50857800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:50851600-50858200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:50851600-50858200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:50851600-50859000	Weak transcription	Osteobl	bone
19	chr7:50852000-50855200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:50852000-50858200	Weak transcription	Fetal Lung	lung
21	chr7:50852200-50855000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:50852200-50858200	Weak transcription	HSMMtube	muscle
23	chr7:50852400-50855200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:50852400-50856200	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:50852600-50855200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:50852600-50855200	Weak transcription	K562	blood
27	chr7:50852600-50857600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:50852800-50856200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:50853000-50857800	Weak transcription	NH-A	brain
30	chr7:50853200-50855200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:50853400-50855200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:50853400-50855200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:50853400-50855200	Weak transcription	Ovary	ovary
34	chr7:50853400-50855200	Weak transcription	Psoas Muscle	Psoas
35	chr7:50853400-50855200	Weak transcription	Right Ventricle	heart
36	chr7:50853400-50858200	Enhancers	Pancreas	Pancrea
37	chr7:50853400-50859800	Weak transcription	Gastric	stomach
38	chr7:50854400-50855000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr7:50854400-50855200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:50854400-50855400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr7:50854400-50855600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:50854400-50856400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr7:50854400-50856800	Enhancers	Right Atrium	heart
44	chr7:50854600-50855000	Enhancers	Spleen	Spleen
45	chr7:50854600-50855200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:50854600-50856800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:50854600-50857800	Enhancers	HUVEC	blood vessel
48	chr7:50854800-50855200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:50854800-50855200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:50854800-50855400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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