Variant report

Variant	rs2669133
Chromosome Location	chr10:5797589-5797590
allele	G/T
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	chr10:5797556-5797908	K562	blood:	n/a	n/a
2	POLR2A	chr10:5797538-5798003	K562	blood:	n/a	n/a
3	POLR2A	chr10:5797278-5797844	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:5795617..5797655-chr10:5843237..5845319,2	K562	blood:
2	chr10:5795768..5800439-chr10:5800634..5804425,4	K562	blood:
3	chr10:5795955..5798255-chr10:5801886..5804551,2	MCF-7	breast:
4	chr10:5707547..5710486-chr10:5795745..5798015,3	K562	blood:

Variant related genes	Relation type
FAM208B	TF binding region
ENSG00000196372	Chromatin interaction
ENSG00000108021	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11254115	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11254828	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11254898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11255139	0.82[ASN][1000 genomes]
rs12257412	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12571055	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12572339	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1567708	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2246268	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275772	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2669139	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2797490	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2797492	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2797497	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34404996	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3750636	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3793708	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3924378	0.85[ASN][1000 genomes]
rs57103262	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58502403	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59827083	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7089693	0.86[ASN][1000 genomes]
rs7096328	0.88[ASN][1000 genomes]
rs73610559	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5762600-5843400	Strong transcription	Dnd41	blood
2	chr10:5762800-5843000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:5768000-5849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:5779000-5804600	Strong transcription	A549	lung
5	chr10:5781400-5818600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:5783400-5816600	Strong transcription	Primary B cells from peripheral blood	blood
7	chr10:5784800-5799400	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:5784800-5818000	Weak transcription	Stomach Mucosa	stomach
9	chr10:5786200-5816400	Weak transcription	Right Atrium	heart
10	chr10:5788000-5818000	Strong transcription	Duodenum Mucosa	Duodenum
11	chr10:5789200-5798600	Weak transcription	Brain Angular Gyrus	brain
12	chr10:5789200-5799000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:5789200-5804400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr10:5789400-5798600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr10:5790400-5798800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr10:5790600-5798400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:5790600-5800200	Weak transcription	Fetal Brain Male	brain
18	chr10:5790800-5798600	Weak transcription	Brain Substantia Nigra	brain
19	chr10:5790800-5799000	Weak transcription	HSMMtube	muscle
20	chr10:5790800-5799200	Weak transcription	HUVEC	blood vessel
21	chr10:5791000-5798600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr10:5791200-5798000	Weak transcription	HMEC	breast
23	chr10:5791200-5799200	Weak transcription	Small Intestine	intestine
24	chr10:5791400-5798400	Weak transcription	Colonic Mucosa	Colon
25	chr10:5791400-5798600	Weak transcription	Fetal Kidney	kidney
26	chr10:5791400-5798600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr10:5791400-5798800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr10:5791600-5798400	Weak transcription	Psoas Muscle	Psoas
29	chr10:5791600-5798600	Weak transcription	Brain Germinal Matrix	brain
30	chr10:5791600-5798600	Weak transcription	Left Ventricle	heart
31	chr10:5791600-5798600	Weak transcription	Ovary	ovary
32	chr10:5791800-5798200	Weak transcription	Hela-S3	cervix
33	chr10:5791800-5799000	Weak transcription	NHEK	skin
34	chr10:5792000-5798600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr10:5792000-5799000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr10:5792000-5799200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr10:5792000-5799400	Weak transcription	Fetal Heart	heart
38	chr10:5792400-5798200	Weak transcription	NH-A	brain
39	chr10:5792600-5798800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr10:5793400-5798000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:5793400-5798000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr10:5793800-5797600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr10:5793800-5798600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr10:5793800-5798600	Weak transcription	HSMM	muscle
45	chr10:5793800-5799600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr10:5794000-5798800	Weak transcription	Brain Hippocampus Middle	brain
47	chr10:5794000-5802600	Strong transcription	Fetal Stomach	stomach
48	chr10:5794400-5798600	Weak transcription	Adipose Nuclei	Adipose
49	chr10:5794600-5798600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr10:5794600-5799000	Weak transcription	Right Ventricle	heart

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