Variant report

Variant	rs73336465
Chromosome Location	chr17:60143954-60143955
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	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	MAZ	chr17:60142024-60144003	GM12878	blood:	n/a	chr17:60143353-60143364 chr17:60143354-60143363 chr17:60143356-60143365 chr17:60143352-60143365
3	CTCF	chr17:60141371-60144094	SK-N-SH	brain:	n/a	chr17:60143469-60143490 chr17:60143451-60143464 chr17:60143476-60143489 chr17:60143474-60143492 chr17:60143475-60143491 chr17:60142377-60142390 chr17:60143476-60143489
4	HCFC1	chr17:60142838-60144040	Hela-S3	cervix:	n/a	n/a
5	SMC3	chr17:60143309-60143965	HepG2	liver:	n/a	chr17:60143476-60143490 chr17:60143458-60143465
6	MAX	chr17:60142795-60144040	MCF-7	breast:	n/a	chr17:60143353-60143364 chr17:60143354-60143363 chr17:60143356-60143365 chr17:60143352-60143365
7	RCOR1	chr17:60143942-60144142	GM12878	blood:	n/a	n/a
8	ZNF143	chr17:60142939-60143971	K562	blood:	n/a	n/a
9	RAD21	chr17:60142732-60144145	SK-N-SH	brain:	n/a	chr17:60143450-60143463 chr17:60143472-60143491 chr17:60143241-60143253 chr17:60143476-60143490 chr17:60143451-60143465
10	CTCF	chr17:60143860-60144010	HPF	lung:	n/a	n/a
11	ARID3A	chr17:60143094-60143997	HepG2	liver:	n/a	n/a
12	REST	chr17:60142779-60144019	A549	lung:	n/a	n/a
13	SIN3AK20	chr17:60140691-60144013	MCF-7	breast:	n/a	n/a
14	SMC3	chr17:60140551-60144378	SK-N-SH	brain:	n/a	chr17:60143476-60143490 chr17:60143458-60143465 chr17:60143241-60143251
15	PML	chr17:60142792-60144034	MCF-7	breast:	n/a	chr17:60143040-60143048
16	EGR1	chr17:60142777-60144062	MCF-7	breast:	n/a	chr17:60143377-60143391 chr17:60143421-60143435

No.	Distal block	Cell Line	Cell type
1	chr17:60143234..60144153-chr17:60186582..60187093,2	MCF-7	breast:
2	chr17:60002671..60006640-chr17:60140695..60145461,16	MCF-7	breast:
3	chr1:36025870..36028585-chr17:60142680..60144549,2	MCF-7	breast:
4	chr17:59938249..59942766-chr17:60140265..60145745,10	MCF-7	breast:
5	chr17:60141749..60144598-chr8:97272082..97274829,2	MCF-7	breast:
6	chr17:59713235..59713764-chr17:60143451..60143968,2	MCF-7	breast:
7	chr17:60023252..60024196-chr17:60143487..60144110,2	MCF-7	breast:
8	chr17:60109100..60115940-chr17:60139087..60144589,10	MCF-7	breast:
9	chr17:60143070..60143973-chr17:60186161..60187162,7	MCF-7	breast:
10	chr17:60002473..60006196-chr17:60142332..60145548,5	MCF-7	breast:
11	chr17:60143617..60145318-chr17:60151412..60154053,2	K562	blood:
12	chr1:149856465..149858379-chr17:60141734..60144572,2	MCF-7	breast:
13	chr17:59938976..59941909-chr17:60142630..60144812,2	K562	blood:
14	chr17:60105875..60108705-chr17:60141999..60144284,3	MCF-7	breast:
15	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
ENSG00000184678	Chromatin interaction
ENSG00000108510	Chromatin interaction
ENSG00000156469	Chromatin interaction
ENSG00000200842	Chromatin interaction
ENSG00000156471	Chromatin interaction
ENSG00000020129	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];1.00[AMR][1000 genomes]
rs73336466	1.00[AFR][1000 genomes]
rs73336476	0.90[AFR][1000 genomes];1.00[AMR][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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60141000-60144000	Active TSS	Hela-S3	cervix
2	chr17:60141800-60144000	Active TSS	Brain Angular Gyrus	brain
3	chr17:60143400-60144000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr17:60143400-60144000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr17:60143400-60144000	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr17:60143400-60144000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr17:60143400-60144000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr17:60143400-60144000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr17:60143400-60144000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr17:60143400-60144000	Enhancers	Fetal Lung	lung
11	chr17:60143400-60144000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr17:60143400-60144000	Enhancers	Stomach Mucosa	stomach
13	chr17:60143400-60144000	Enhancers	GM12878-XiMat	blood
14	chr17:60143400-60144000	Enhancers	HMEC	breast
15	chr17:60143400-60144000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr17:60143400-60144200	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr17:60143400-60144200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr17:60143400-60145000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:60143400-60145200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr17:60143400-60145400	Enhancers	Fetal Intestine Large	intestine
21	chr17:60143600-60144000	Enhancers	Primary B cells from peripheral blood	blood
22	chr17:60143600-60144000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr17:60143600-60144000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr17:60143600-60144000	Enhancers	Colon Smooth Muscle	Colon
25	chr17:60143600-60144000	Flanking Active TSS	A549	lung
26	chr17:60143600-60144200	Enhancers	Brain Hippocampus Middle	brain
27	chr17:60143600-60144600	Flanking Active TSS	HepG2	liver
28	chr17:60143600-60145400	Enhancers	Fetal Intestine Small	intestine
29	chr17:60143800-60144000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr17:60143800-60144000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr17:60143800-60144000	Enhancers	Brain Cingulate Gyrus	brain
32	chr17:60143800-60144000	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr17:60143800-60144000	Enhancers	Small Intestine	intestine
34	chr17:60143800-60144200	Flanking Active TSS	Liver	Liver
35	chr17:60143800-60144200	Enhancers	Dnd41	blood
36	chr17:60143800-60145000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr17:60143800-60145200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr17:60143800-60147400	Weak transcription	Fetal Brain Female	brain

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