Variant report

Variant	rs6866607
Chromosome Location	chr5:74700095-74700096
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	chr5:74699858-74700377	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74695714..74697821-chr5:74698263..74700254,2	K562	blood:

Variant related genes	Relation type
COL4A3BP	TF binding region
ENSG00000113163	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11953173	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11954651	1.00[EUR][1000 genomes]
rs11955819	0.88[EUR][1000 genomes]
rs1489	0.82[EUR][1000 genomes]
rs16872523	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16872590	1.00[CEU][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs16872661	0.82[EUR][1000 genomes]
rs17238540	1.00[EUR][1000 genomes]
rs17244841	0.88[EUR][1000 genomes]
rs4640773	0.82[EUR][1000 genomes]
rs57414757	0.88[EUR][1000 genomes]
rs5744617	0.82[EUR][1000 genomes]
rs5744720	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs58216239	0.88[EUR][1000 genomes]
rs59427628	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61516153	0.82[EUR][1000 genomes]
rs6865606	0.88[EUR][1000 genomes]
rs6898308	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73118880	0.94[EUR][1000 genomes]
rs73120804	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73120805	0.88[EUR][1000 genomes]
rs73120807	0.88[EUR][1000 genomes]
rs73120811	0.88[EUR][1000 genomes]
rs73120822	0.88[EUR][1000 genomes]
rs73120824	0.88[EUR][1000 genomes]
rs73120848	0.82[EUR][1000 genomes]
rs73120849	0.82[EUR][1000 genomes]
rs73120850	0.82[EUR][1000 genomes]
rs73122744	0.82[EUR][1000 genomes]
rs73122755	0.82[EUR][1000 genomes]
rs7706933	0.81[EUR][1000 genomes]
rs7722940	0.87[AMR][1000 genomes];1.00[EUR][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	nsv882192	chr5:74641707-74707762	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74656400-74725600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:74656800-74731400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:74657800-74708000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:74659800-74720600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:74660000-74722800	Weak transcription	Fetal Heart	heart
6	chr5:74660200-74707800	Weak transcription	Stomach Mucosa	stomach
7	chr5:74665000-74703000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr5:74667000-74723200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:74670800-74709400	Weak transcription	Pancreas	Pancrea
10	chr5:74670800-74720600	Weak transcription	Right Ventricle	heart
11	chr5:74670800-74731400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:74671000-74722800	Weak transcription	Hela-S3	cervix
13	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
14	chr5:74675400-74720800	Weak transcription	Small Intestine	intestine
15	chr5:74676200-74721000	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:74677000-74701000	Weak transcription	A549	lung
17	chr5:74677400-74722800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:74677600-74709200	Weak transcription	Gastric	stomach
19	chr5:74677600-74734200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:74677800-74721000	Weak transcription	NH-A	brain
21	chr5:74677800-74725000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:74677800-74731400	Weak transcription	Aorta	Aorta
23	chr5:74678000-74708000	Weak transcription	NHLF	lung
24	chr5:74678000-74720600	Weak transcription	Colonic Mucosa	Colon
25	chr5:74678000-74730800	Weak transcription	Psoas Muscle	Psoas
26	chr5:74680600-74721000	Weak transcription	HMEC	breast
27	chr5:74680800-74722600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr5:74681000-74723200	Weak transcription	HUVEC	blood vessel
29	chr5:74681400-74718400	Weak transcription	Brain Germinal Matrix	brain
30	chr5:74681800-74720600	Weak transcription	Fetal Brain Male	brain
31	chr5:74682000-74708000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:74682200-74705000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:74684000-74704200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:74684000-74709000	Weak transcription	Spleen	Spleen
35	chr5:74684000-74720400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr5:74684000-74720800	Weak transcription	Thymus	Thymus
37	chr5:74684000-74731200	Weak transcription	HSMMtube	muscle
38	chr5:74684800-74705400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:74684800-74705400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:74685200-74707200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:74685200-74708400	Weak transcription	Osteobl	bone
42	chr5:74685800-74709200	Weak transcription	Dnd41	blood
43	chr5:74685800-74711800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:74686000-74707800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr5:74690000-74707000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:74692000-74708400	Weak transcription	K562	blood
47	chr5:74692000-74709000	Weak transcription	HepG2	liver
48	chr5:74692800-74701400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr5:74692800-74702600	Strong transcription	Primary B cells from cord blood	blood
50	chr5:74693400-74700800	Strong transcription	Liver	Liver

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