Variant report

Variant	rs8060136
Chromosome Location	chr16:30493733-30493734
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	chr16:30493660-30493810	HFF	foreskin:	n/a	n/a
2	CTCF	chr16:30493620-30493890	GM12866	blood:	n/a	n/a
3	RAD21	chr16:30493721-30493997	HepG2	liver:	n/a	n/a
4	CTCF	chr16:30493720-30493870	GM12874	blood:	n/a	n/a
5	CTCF	chr16:30493720-30493870	GM12878	blood:	n/a	n/a
6	CTCF	chr16:30493720-30493870	HCM	heart:	n/a	n/a
7	RAD21	chr16:30493614-30493997	HepG2	liver:	n/a	n/a
8	RAD21	chr16:30493654-30493995	H1-hESC	embryonic stem cell:	n/a	n/a
9	RUNX3	chr16:30493567-30493839	GM12878	blood:	n/a	n/a
10	CTCF	chr16:30493607-30494157	HCT-116	colon:	n/a	chr16:30494040-30494048
11	CTCF	chr16:30493685-30494028	K562	blood:	n/a	n/a
12	CTCF	chr16:30493695-30494031	K562	blood:	n/a	n/a
13	BATF	chr16:30493584-30493835	GM12878	blood:	n/a	n/a
14	ARID3A	chr16:30493687-30494008	K562	blood:	n/a	n/a
15	CTCF	chr16:30493625-30494101	MCF-7	breast:	n/a	chr16:30494040-30494048
16	RAD21	chr16:30493731-30493998	SK-N-SH_RA	brain:	n/a	n/a
17	RAD21	chr16:30493679-30494084	HCT-116	colon:	n/a	n/a
18	CTCF	chr16:30493700-30493850	NHDF-neo	bronchial:	n/a	n/a
19	RAD21	chr16:30493692-30493879	GM12878	blood:	n/a	n/a
20	SMC3	chr16:30493717-30494011	HepG2	liver:	n/a	n/a
21	CTCF	chr16:30493622-30494077	K562	blood:	n/a	chr16:30494040-30494048
22	SMC3	chr16:30493722-30494007	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr16:30493680-30493830	NHDF-neo	bronchial:	n/a	n/a
24	RAD21	chr16:30493699-30494024	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr16:30493513-30494216	A549	lung:	n/a	chr16:30494040-30494048

Variant related genes	Relation type
ENSG00000260487	TF binding region
ITGAL	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17839548	1.00[MEX][hapmap]
rs6565186	0.90[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs9924077	1.00[MEX][hapmap]
rs9937653	1.00[MEX][hapmap]

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	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
4	nsv1783	chr16:30449450-30494321	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30485200-30499600	Weak transcription	Liver	Liver
2	chr16:30485600-30500200	Weak transcription	Dnd41	blood
3	chr16:30485800-30500200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:30485800-30521400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr16:30486000-30510600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr16:30486200-30494600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr16:30486800-30494800	Weak transcription	Lung	lung
8	chr16:30486800-30495600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr16:30486800-30533400	Weak transcription	Esophagus	oesophagus
10	chr16:30487000-30494000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr16:30487000-30494600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr16:30487000-30497000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr16:30487000-30497000	Weak transcription	Fetal Intestine Small	intestine
14	chr16:30487000-30534800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr16:30487400-30502000	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr16:30487600-30500000	Weak transcription	Placenta	Placenta
17	chr16:30488200-30495800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr16:30488600-30496200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr16:30489000-30505400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr16:30489000-30534000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr16:30489800-30496000	Strong transcription	Primary T cells from cord blood	blood
22	chr16:30490000-30494400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
23	chr16:30490000-30494400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr16:30490000-30518800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr16:30490200-30497600	Strong transcription	Primary B cells from cord blood	blood
26	chr16:30490400-30495800	Strong transcription	Spleen	Spleen
27	chr16:30490600-30495800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr16:30490600-30521000	Weak transcription	Colonic Mucosa	Colon
29	chr16:30490800-30534600	Strong transcription	Thymus	Thymus
30	chr16:30491000-30513600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr16:30491000-30534000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr16:30491600-30511200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr16:30491600-30533800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr16:30491800-30498200	Strong transcription	GM12878-XiMat	blood
35	chr16:30492000-30494200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr16:30492200-30497200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr16:30492200-30534600	Strong transcription	Fetal Thymus	thymus
38	chr16:30492400-30495800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr16:30492800-30495400	Strong transcription	Primary hematopoietic stem cells	blood
40	chr16:30493000-30494000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr16:30493600-30494400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood

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