Variant report

Variant	rs2301926
Chromosome Location	chr7:50849626-50849627
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	CTCF	chr7:50849600-50849750	A549	lung:	n/a	n/a
2	FOXA1	chr7:50849473-50849739	T-47D	breast:	n/a	chr7:50849610-50849625
3	FOXA1	chr7:50849471-50849719	T-47D	breast:	n/a	chr7:50849610-50849625
4	POLR2A	chr7:50848849-50849691	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr7:50849067-50851492	H1-neurons	neurons:	n/a	n/a
6	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: 40 )
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];0.93[ASN][1000 genomes]
rs10216232	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1024532	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1548609	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2108350	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2301927	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329492	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[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];0.81[ASN][1000 genomes]
rs3800999	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947432	0.90[AMR][1000 genomes]
rs4947444	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947446	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947804	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4947835	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947836	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947837	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947842	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947866	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947886	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947890	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947891	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6593140	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6593142	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6593171	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6945302	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6973119	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6978627	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs757775	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7783329	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7788180	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs962508	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs990358	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50822000-50849800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:50822800-50850200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:50833200-50850200	Weak transcription	HSMM	muscle
4	chr7:50835800-50849800	Weak transcription	HUVEC	blood vessel
5	chr7:50837800-50849800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:50838000-50850200	Weak transcription	HSMMtube	muscle
7	chr7:50839200-50850200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:50839800-50850800	Weak transcription	Fetal Heart	heart
9	chr7:50843600-50849800	Weak transcription	Aorta	Aorta
10	chr7:50845000-50851600	Weak transcription	K562	blood
11	chr7:50845600-50850200	Enhancers	Liver	Liver
12	chr7:50847000-50850600	Weak transcription	Small Intestine	intestine
13	chr7:50847200-50849800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:50847400-50851000	Enhancers	Placenta	Placenta
15	chr7:50847600-50849800	Enhancers	Left Ventricle	heart
16	chr7:50847600-50850200	Weak transcription	Gastric	stomach
17	chr7:50847800-50849800	Enhancers	Right Ventricle	heart
18	chr7:50848000-50855200	Weak transcription	Hela-S3	cervix
19	chr7:50848400-50849800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr7:50848600-50849800	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr7:50848600-50850200	Weak transcription	HepG2	liver
22	chr7:50848600-50851000	Active TSS	Brain Cingulate Gyrus	brain
23	chr7:50848800-50849800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr7:50848800-50849800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr7:50848800-50849800	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr7:50848800-50850200	Enhancers	Spleen	Spleen
27	chr7:50848800-50851000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:50848800-50851200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:50848800-50851200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr7:50849000-50849800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
31	chr7:50849000-50849800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:50849000-50849800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr7:50849000-50849800	Flanking Active TSS	Pancreas	Pancrea
34	chr7:50849000-50850000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
35	chr7:50849000-50850000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:50849000-50850000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:50849000-50850200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:50849000-50851000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:50849000-50851000	Active TSS	Brain Anterior Caudate	brain
40	chr7:50849000-50851200	Active TSS	Brain Angular Gyrus	brain
41	chr7:50849000-50851200	Active TSS	Brain Hippocampus Middle	brain
42	chr7:50849000-50851200	Active TSS	Fetal Brain Female	brain
43	chr7:50849200-50849800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:50849200-50849800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:50849200-50849800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:50849200-50849800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr7:50849200-50849800	Active TSS	Fetal Brain Male	brain
48	chr7:50849200-50849800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr7:50849200-50850000	Enhancers	Fetal Lung	lung
50	chr7:50849200-50850000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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