Variant report

Variant	rs73336466
Chromosome Location	chr17:60144872-60144873
allele	C/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	chr17:60142769-60145592	A549	lung:	n/a	chr17:60143469-60143490 chr17:60145380-60145398 chr17:60143451-60143464 chr17:60143476-60143489 chr17:60143474-60143492 chr17:60143475-60143491 chr17:60144727-60144735 chr17:60145382-60145403 chr17:60143476-60143489
2	ARID3A	chr17:60144345-60145075	HepG2	liver:	n/a	n/a
3	FOXA1	chr17:60144450-60144917	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:60002671..60006640-chr17:60140695..60145461,16	MCF-7	breast:
2	chr17:59938249..59942766-chr17:60140265..60145745,10	MCF-7	breast:
3	chr17:60002473..60006196-chr17:60142332..60145548,5	MCF-7	breast:
4	chr17:60143617..60145318-chr17:60151412..60154053,2	K562	blood:
5	chr17:60122696..60125074-chr17:60143071..60145071,2	MCF-7	breast:

Variant related genes	Relation type
MED13	TF binding region
ENSG00000108506	Chromatin interaction
ENSG00000136492	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs4531801	1.00[AFR][1000 genomes]
rs57185107	1.00[AFR][1000 genomes]
rs57882344	1.00[AFR][1000 genomes]
rs58969307	1.00[AFR][1000 genomes]
rs59950875	1.00[AFR][1000 genomes]
rs60371870	1.00[AFR][1000 genomes]
rs60520625	1.00[AFR][1000 genomes]
rs60624850	1.00[AFR][1000 genomes]
rs60734042	1.00[AFR][1000 genomes]
rs60883751	1.00[AFR][1000 genomes]
rs61333147	1.00[AFR][1000 genomes]
rs61525118	1.00[AFR][1000 genomes]
rs73332529	0.90[AFR][1000 genomes]
rs73332531	0.90[AFR][1000 genomes]
rs73332532	0.90[AFR][1000 genomes]
rs73332535	0.90[AFR][1000 genomes]
rs73332536	0.90[AFR][1000 genomes]
rs73332538	0.90[AFR][1000 genomes]
rs73332540	0.90[AFR][1000 genomes]
rs73332544	0.90[AFR][1000 genomes]
rs73332546	0.90[AFR][1000 genomes]
rs73332552	0.90[AFR][1000 genomes]
rs73332559	1.00[AFR][1000 genomes]
rs73332562	1.00[AFR][1000 genomes]
rs73332563	1.00[AFR][1000 genomes]
rs73332589	1.00[AFR][1000 genomes]
rs73332592	1.00[AFR][1000 genomes]
rs73332602	1.00[AFR][1000 genomes]
rs73334603	1.00[AFR][1000 genomes]
rs73334608	1.00[AFR][1000 genomes]
rs73334628	1.00[AFR][1000 genomes]
rs73334639	1.00[AFR][1000 genomes]
rs73334640	1.00[AFR][1000 genomes]
rs73334641	1.00[AFR][1000 genomes]
rs73334645	1.00[AFR][1000 genomes]
rs73334646	1.00[AFR][1000 genomes]
rs73334651	1.00[AFR][1000 genomes]
rs73334652	1.00[AFR][1000 genomes]
rs73334653	1.00[AFR][1000 genomes]
rs73334655	1.00[AFR][1000 genomes]
rs73334666	1.00[AFR][1000 genomes]
rs73334668	1.00[AFR][1000 genomes]
rs73334669	1.00[AFR][1000 genomes]
rs73334673	0.81[AFR][1000 genomes]
rs73334679	1.00[AFR][1000 genomes]
rs73334682	1.00[AFR][1000 genomes]
rs73334684	1.00[AFR][1000 genomes]
rs73334687	1.00[AFR][1000 genomes]
rs73334688	1.00[AFR][1000 genomes]
rs73334690	1.00[AFR][1000 genomes]
rs73334691	1.00[AFR][1000 genomes]
rs73334693	1.00[AFR][1000 genomes]
rs73334698	1.00[AFR][1000 genomes]
rs73334700	1.00[AFR][1000 genomes]
rs73334701	1.00[AFR][1000 genomes]
rs73334702	1.00[AFR][1000 genomes]
rs73336406	1.00[AFR][1000 genomes]
rs73336409	1.00[AFR][1000 genomes]
rs73336410	1.00[AFR][1000 genomes]
rs73336411	1.00[AFR][1000 genomes]
rs73336412	1.00[AFR][1000 genomes]
rs73336415	1.00[AFR][1000 genomes]
rs73336423	1.00[AFR][1000 genomes]
rs73336428	1.00[AFR][1000 genomes]
rs73336429	1.00[AFR][1000 genomes]
rs73336431	1.00[AFR][1000 genomes]
rs73336432	1.00[AFR][1000 genomes]
rs73336433	1.00[AFR][1000 genomes]
rs73336434	1.00[AFR][1000 genomes]
rs73336446	1.00[AFR][1000 genomes]
rs73336448	1.00[AFR][1000 genomes]
rs73336461	1.00[AFR][1000 genomes]
rs73336464	1.00[AFR][1000 genomes]
rs73336465	1.00[AFR][1000 genomes]
rs73336476	0.90[AFR][1000 genomes]
rs73336480	0.90[AFR][1000 genomes]
rs73338415	0.81[AFR][1000 genomes]
rs73338428	0.81[AFR][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	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	esv2753884	chr17:60077852-60190630	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3415630	chr17:60124819-60401635	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60143400-60145000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:60143400-60145200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:60143400-60145400	Enhancers	Fetal Intestine Large	intestine
4	chr17:60143600-60145400	Enhancers	Fetal Intestine Small	intestine
5	chr17:60143800-60145000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr17:60143800-60145200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr17:60143800-60147400	Weak transcription	Fetal Brain Female	brain
8	chr17:60144000-60145000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr17:60144000-60145000	Weak transcription	Fetal Lung	lung
10	chr17:60144000-60145200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr17:60144000-60145200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr17:60144000-60145200	Weak transcription	Small Intestine	intestine
13	chr17:60144000-60145200	Weak transcription	K562	blood
14	chr17:60144000-60145400	Weak transcription	Stomach Mucosa	stomach
15	chr17:60144000-60145400	Enhancers	A549	lung
16	chr17:60144000-60152600	Weak transcription	GM12878-XiMat	blood
17	chr17:60144600-60145600	Enhancers	HepG2	liver
18	chr17:60144800-60145000	Flanking Active TSS	Liver	Liver

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