Variant report

Variant	rs17884097
Chromosome Location	chr16:70510541-70510542
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	EP300	chr16:70510153-70510970	ECC-1	luminal epithelium:	n/a	chr16:70510360-70510376 chr16:70510644-70510653 chr16:70510700-70510714
2	SP1	chr16:70510336-70511085	GM12878	blood:	n/a	chr16:70510364-70510373 chr16:70510357-70510367 chr16:70510362-70510374 chr16:70510363-70510373 chr16:70510358-70510367 chr16:70510357-70510366 chr16:70510357-70510371 chr16:70510363-70510377 chr16:70510356-70510368 chr16:70510356-70510368 chr16:70510362-70510374
3	POU2F2	chr16:70510323-70510941	GM12878	blood:	n/a	chr16:70510358-70510370 chr16:70510361-70510373
4	TCF7L2	chr16:70510147-70510807	Hela-S3	cervix:	n/a	chr16:70510643-70510652
5	FOS	chr16:70510458-70510807	MCF10A-Er-Src	breast:	n/a	chr16:70510642-70510653 chr16:70510643-70510653 chr16:70510643-70510653 chr16:70510643-70510652
6	JUN	chr16:70510467-70510821	HUVEC	blood vessel:	n/a	chr16:70510643-70510653 chr16:70510643-70510653 chr16:70510643-70510652
7	RXRA	chr16:70510443-70510879	GM12878	blood:	n/a	n/a
8	TCF12	chr16:70510124-70511137	SK-N-SH	brain:	n/a	n/a
9	BCLAF1	chr16:70510362-70511056	GM12878	blood:	n/a	n/a
10	EP300	chr16:70510336-70510972	GM12878	blood:	n/a	chr16:70510360-70510376 chr16:70510644-70510653 chr16:70510700-70510714
11	MAX	chr16:70510121-70510940	ECC-1	luminal epithelium:	n/a	chr16:70510359-70510369
12	NFIC	chr16:70510218-70511205	GM12878	blood:	n/a	n/a
13	JUND	chr16:70510357-70511020	Hela-S3	cervix:	n/a	chr16:70510642-70510653 chr16:70510643-70510653 chr16:70510643-70510653 chr16:70510643-70510652
14	JUND	chr16:70510108-70511112	SK-N-SH	brain:	n/a	chr16:70510642-70510653 chr16:70510643-70510653 chr16:70510643-70510653 chr16:70510643-70510652
15	IRF4	chr16:70510295-70511025	GM12878	blood:	n/a	n/a
16	POLR2A	chr16:70510343-70510974	GM12891	blood:	n/a	n/a
17	GTF2F1	chr16:70510354-70510741	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr16:70510272-70510701	ECC-1	luminal epithelium:	n/a	n/a
19	CTCF	chr16:70510355-70510719	GM12878	blood:	n/a	n/a
20	POLR2A	chr16:70510295-70510696	GM12878	blood:	n/a	n/a
21	ZNF143	chr16:70510435-70510572	Hela-S3	cervix:	n/a	n/a
22	RELA	chr16:70510423-70511004	GM18951	blood:	n/a	n/a
23	RAD21	chr16:70510373-70510764	IMR90	lung:	n/a	chr16:70510463-70510473
24	CEBPB	chr16:70510400-70510765	Hela-S3	cervix:	n/a	n/a
25	MAFK	chr16:70510444-70510739	Hela-S3	cervix:	n/a	n/a
26	PAX5	chr16:70510306-70510930	GM12891	blood:	n/a	n/a
27	RCOR1	chr16:70510272-70510922	Hela-S3	cervix:	n/a	n/a
28	PAX5	chr16:70510182-70510952	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:70510352-70510789	GM12892	blood:	n/a	n/a
30	EBF1	chr16:70510178-70511051	GM12878	blood:	n/a	n/a
31	BCL11A	chr16:70510390-70510925	GM12878	blood:	n/a	n/a
32	CHD2	chr16:70510300-70511008	GM12878	blood:	n/a	n/a
33	ZEB1	chr16:70510359-70510819	GM12878	blood:	n/a	n/a
34	PAX5	chr16:70510418-70510787	GM12878	blood:	n/a	n/a
35	EP300	chr16:70510466-70510793	Hela-S3	cervix:	n/a	chr16:70510644-70510653 chr16:70510700-70510714
36	STAT3	chr16:70510515-70510830	Hela-S3	cervix:	n/a	chr16:70510643-70510652
37	RAD21	chr16:70510345-70510808	SK-N-SH_RA	brain:	n/a	chr16:70510463-70510473
38	BRCA1	chr16:70510334-70510892	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr16:70510457-70510719	GM12891	blood:	n/a	n/a
40	RUNX3	chr16:70510174-70511130	GM12878	blood:	n/a	n/a
41	SRF	chr16:70510485-70510842	GM12878	blood:	n/a	n/a
42	RAD21	chr16:70510453-70510713	GM12878	blood:	n/a	chr16:70510463-70510473
43	MEF2A	chr16:70510341-70510989	GM12878	blood:	n/a	chr16:70510644-70510652
44	TEAD4	chr16:70510169-70510862	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr16:70510234-70510864	U87	brain:	n/a	n/a
46	POLR2A	chr16:70510417-70510859	GM12878	blood:	n/a	n/a
47	MYC	chr16:70510512-70510725	MCF10A-Er-Src	breast:	n/a	n/a
48	PAX5	chr16:70510384-70510856	GM12892	blood:	n/a	n/a
49	JUND	chr16:70510465-70510889	GM12878	blood:	n/a	chr16:70510642-70510653 chr16:70510643-70510653 chr16:70510643-70510653 chr16:70510643-70510652
50	NFATC1	chr16:70510272-70511091	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:70510287..70517781-chr16:70555054..70559513,7	MCF-7	breast:
2	chr16:70509867..70512688-chr16:70534872..70536534,2	K562	blood:
3	chr16:70413020..70418181-chr16:70497448..70510572,26	MCF-7	breast:

Variant related genes	Relation type
FUK	TF binding region
ENSG00000189091	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000103051	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11860625	0.89[AFR][1000 genomes]
rs11862417	0.89[AMR][1000 genomes]
rs11863471	0.89[AMR][1000 genomes]
rs11863539	0.89[AMR][1000 genomes]
rs16970184	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17879135	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17879236	0.87[AFR][1000 genomes]
rs17882471	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17882726	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17883115	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17884146	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17885314	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17885948	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57384881	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60237114	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60345847	0.89[AMR][1000 genomes]
rs60470914	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7196785	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7199145	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7199719	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026073	0.89[AMR][1000 genomes]
rs8049316	0.89[AFR][1000 genomes]
rs8055338	0.89[AMR][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	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	esv1828600	chr16:70500809-70515355	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1812578	chr16:70504305-70515355	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 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	chr16:70489400-70510600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr16:70489400-70511800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:70489400-70512000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:70489400-70513000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr16:70489400-70513400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:70489400-70513800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:70489400-70513800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr16:70489400-70514200	Weak transcription	Small Intestine	intestine
9	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
10	chr16:70490200-70514400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr16:70495000-70519000	Strong transcription	Primary T cells from cord blood	blood
12	chr16:70495800-70512800	Weak transcription	Right Atrium	heart
13	chr16:70497200-70510600	Strong transcription	Lung	lung
14	chr16:70498200-70511600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr16:70498200-70513600	Weak transcription	Fetal Kidney	kidney
16	chr16:70499200-70510800	Weak transcription	Primary B cells from cord blood	blood
17	chr16:70499400-70510600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr16:70501200-70535800	Strong transcription	Fetal Intestine Small	intestine
19	chr16:70501400-70535200	Strong transcription	Fetal Intestine Large	intestine
20	chr16:70501400-70536400	Strong transcription	Fetal Stomach	stomach
21	chr16:70502800-70510800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr16:70503000-70512400	Strong transcription	Brain Hippocampus Middle	brain
23	chr16:70503400-70513000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:70503800-70522200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr16:70504200-70524800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr16:70504200-70532000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr16:70504400-70535200	Strong transcription	Liver	Liver
28	chr16:70504600-70511000	Strong transcription	Colonic Mucosa	Colon
29	chr16:70505200-70512000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:70505400-70511000	Strong transcription	Spleen	Spleen
31	chr16:70505400-70511800	Weak transcription	Dnd41	blood
32	chr16:70505400-70512200	Weak transcription	Aorta	Aorta
33	chr16:70505800-70515600	Weak transcription	K562	blood
34	chr16:70506000-70511200	Strong transcription	Brain Substantia Nigra	brain
35	chr16:70506000-70512400	Strong transcription	Adipose Nuclei	Adipose
36	chr16:70506000-70518200	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr16:70506200-70511800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr16:70506200-70515800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:70506200-70518800	Strong transcription	Brain Cingulate Gyrus	brain
40	chr16:70506200-70524000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr16:70506400-70510600	Strong transcription	Ovary	ovary
42	chr16:70506400-70517400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr16:70506400-70535200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr16:70506600-70511000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr16:70506600-70522800	Weak transcription	Fetal Brain Male	brain
46	chr16:70506600-70535400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr16:70506800-70518000	Strong transcription	Pancreas	Pancrea
48	chr16:70507000-70510800	Strong transcription	Brain Angular Gyrus	brain
49	chr16:70507000-70518800	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr16:70507000-70518800	Strong transcription	Fetal Brain Female	brain

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