Variant report

Variant	rs383209
Chromosome Location	chr8:130877818-130877819
allele	C/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	CEBPB	chr8:130877713-130878059	IMR90	lung:	n/a	n/a
2	STAT3	chr8:130877778-130877820	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
FAM49B	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10956502	0.87[CHB][hapmap];0.81[CHD][hapmap];0.86[ASN][1000 genomes]
rs11984804	0.86[ASN][1000 genomes]
rs167238	0.92[CEU][hapmap];0.90[ASN][1000 genomes]
rs167239	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16904166	0.83[CHB][hapmap];0.86[CHD][hapmap];0.86[ASN][1000 genomes]
rs1979477	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2046260	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2054632	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs212992	0.94[ASN][1000 genomes]
rs2306528	0.87[CHB][hapmap];0.82[CHD][hapmap];0.82[ASN][1000 genomes]
rs2449415	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[YRI][hapmap]
rs2449417	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2663613	0.96[CEU][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2663618	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2663619	0.88[ASN][1000 genomes]
rs298601	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap]
rs298602	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs298604	0.92[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs298605	0.89[ASN][1000 genomes]
rs298606	0.91[ASN][1000 genomes]
rs298607	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298609	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs298611	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs298612	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs298613	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs298614	0.96[ASN][1000 genomes]
rs298615	0.96[ASN][1000 genomes]
rs298616	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298617	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298618	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298619	0.92[CEU][hapmap];0.89[ASN][1000 genomes]
rs298620	0.88[ASN][1000 genomes]
rs2989885	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs367117	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs384752	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs385022	0.92[CEU][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs389604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs401526	0.94[ASN][1000 genomes]
rs412941	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs423915	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs438877	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4395866	0.86[ASN][1000 genomes]
rs476849	0.82[CEU][hapmap];0.90[ASN][1000 genomes]
rs59839253	0.85[ASN][1000 genomes]
rs710616	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710617	0.88[ASN][1000 genomes]
rs837065	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs837075	0.90[ASN][1000 genomes]
rs837079	0.86[ASN][1000 genomes]
rs837080	0.92[CEU][hapmap];0.94[ASN][1000 genomes]
rs837081	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs857233	0.93[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.95[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	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130839200-130882000	Weak transcription	Right Ventricle	heart
2	chr8:130845600-130882000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:130846000-130882000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:130846400-130881800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:130850800-130884000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:130851000-130883800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:130851200-130878600	Weak transcription	Ovary	ovary
8	chr8:130851600-130884600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr8:130852000-130878600	Strong transcription	Fetal Thymus	thymus
10	chr8:130852000-130879400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:130852000-130883800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr8:130852200-130883800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr8:130854000-130878800	Weak transcription	Colonic Mucosa	Colon
14	chr8:130860000-130882400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:130862000-130882400	Weak transcription	NHLF	lung
16	chr8:130862600-130884400	Weak transcription	Fetal Brain Male	brain
17	chr8:130863600-130886800	Weak transcription	Fetal Lung	lung
18	chr8:130864000-130882400	Weak transcription	Esophagus	oesophagus
19	chr8:130864400-130903600	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:130864600-130882200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:130864600-130882400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:130864600-130882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:130864600-130888200	Weak transcription	Small Intestine	intestine
24	chr8:130864800-130898200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:130865000-130897400	Weak transcription	Psoas Muscle	Psoas
26	chr8:130865200-130887200	Weak transcription	Fetal Kidney	kidney
27	chr8:130865200-130897600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:130865400-130882200	Weak transcription	Brain Germinal Matrix	brain
29	chr8:130865400-130899200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:130865600-130907600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:130866000-130894800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:130866200-130885400	Weak transcription	Stomach Mucosa	stomach
33	chr8:130866400-130891600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr8:130868000-130891400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:130869400-130879200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:130869400-130879600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:130869800-130895800	Weak transcription	HepG2	liver
38	chr8:130869800-130897600	Weak transcription	Brain Angular Gyrus	brain
39	chr8:130870200-130878600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr8:130870400-130883400	Weak transcription	Fetal Brain Female	brain
41	chr8:130870600-130878000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:130870600-130886000	Weak transcription	HUVEC	blood vessel
43	chr8:130870800-130882400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:130871000-130879200	Weak transcription	Osteobl	bone
45	chr8:130871000-130882600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:130871000-130884400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:130871200-130882400	Weak transcription	Aorta	Aorta
48	chr8:130871200-130887600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:130871200-130896000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:130871600-130882400	Weak transcription	Spleen	Spleen

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