Variant report

Variant	rs2301925
Chromosome Location	chr7:50849576-50849577
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	FOXA1	chr7:50849473-50849739	T-47D	breast:	n/a	chr7:50849610-50849625
2	FOXA1	chr7:50849471-50849719	T-47D	breast:	n/a	chr7:50849610-50849625
3	POLR2A	chr7:50848849-50849691	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr7:50849067-50851492	H1-neurons	neurons:	n/a	n/a
5	REST	chr7:50848813-50851717	H1-neurons	neurons:	n/a	chr7:50849352-50849362 chr7:50849999-50850008

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: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10239980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272063	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10278363	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12665949	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12718928	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2051893	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2051894	0.95[AFR][1000 genomes];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]
rs4947861	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4947873	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947888	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6593182	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7783789	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7794164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7809362	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3322592	chr7:50849083-50851631	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

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	chr7:50833200-50850200	Weak transcription	HSMM	muscle
5	chr7:50835800-50849800	Weak transcription	HUVEC	blood vessel
6	chr7:50837800-50849800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:50838000-50850200	Weak transcription	HSMMtube	muscle
8	chr7:50839200-50850200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:50839800-50850800	Weak transcription	Fetal Heart	heart
10	chr7:50843600-50849800	Weak transcription	Aorta	Aorta
11	chr7:50845000-50851600	Weak transcription	K562	blood
12	chr7:50845600-50850200	Enhancers	Liver	Liver
13	chr7:50847000-50850600	Weak transcription	Small Intestine	intestine
14	chr7:50847200-50849800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:50847400-50851000	Enhancers	Placenta	Placenta
16	chr7:50847600-50849600	Enhancers	Psoas Muscle	Psoas
17	chr7:50847600-50849600	Enhancers	Right Atrium	heart
18	chr7:50847600-50849800	Enhancers	Left Ventricle	heart
19	chr7:50847600-50850200	Weak transcription	Gastric	stomach
20	chr7:50847800-50849800	Enhancers	Right Ventricle	heart
21	chr7:50848000-50855200	Weak transcription	Hela-S3	cervix
22	chr7:50848200-50849600	Enhancers	Colon Smooth Muscle	Colon
23	chr7:50848400-50849800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr7:50848600-50849600	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr7:50848600-50849800	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr7:50848600-50850200	Weak transcription	HepG2	liver
27	chr7:50848600-50851000	Active TSS	Brain Cingulate Gyrus	brain
28	chr7:50848800-50849600	Enhancers	Esophagus	oesophagus
29	chr7:50848800-50849600	Enhancers	NH-A	brain
30	chr7:50848800-50849800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr7:50848800-50849800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr7:50848800-50849800	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr7:50848800-50850200	Enhancers	Spleen	Spleen
34	chr7:50848800-50851000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:50848800-50851200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:50848800-50851200	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr7:50849000-50849600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:50849000-50849600	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr7:50849000-50849600	Enhancers	Ovary	ovary
40	chr7:50849000-50849800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr7:50849000-50849800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:50849000-50849800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr7:50849000-50849800	Flanking Active TSS	Pancreas	Pancrea
44	chr7:50849000-50850000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
45	chr7:50849000-50850000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:50849000-50850000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:50849000-50850200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:50849000-50851000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:50849000-50851000	Active TSS	Brain Anterior Caudate	brain
50	chr7:50849000-50851200	Active TSS	Brain Angular Gyrus	brain

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