Variant report

Variant	rs17878599
Chromosome Location	chr16:70509610-70509611
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	chr16:70509230-70509712	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr16:70509610-70509813	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr16:70509540-70509690	HMEC	breast:	n/a	n/a
4	RUNX3	chr16:70509519-70509876	GM12878	blood:	n/a	n/a
5	POLR2A	chr16:70509510-70509710	A549	lung:	n/a	n/a
6	MTA3	chr16:70509460-70509948	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70507044..70509667-chr16:70557071..70558921,2	MCF-7	breast:
2	chr16:70413020..70418181-chr16:70497448..70510572,26	MCF-7	breast:

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

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11865863	1.00[MKK][hapmap]
rs13332431	1.00[CHB][hapmap]
rs17878921	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17881323	1.00[CHB][hapmap]
rs17881635	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs17883248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap]
rs17883716	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs17883770	1.00[AMR][1000 genomes]
rs17885061	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17886060	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs17886071	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35675177	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4429290	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7196699	1.00[AMR][1000 genomes]
rs7203062	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049164	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs8057356	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv906873	chr16:70495911-70509838	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	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
7	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:119 , 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	chr16:70495200-70510200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr16:70495200-70510200	Weak transcription	Osteobl	bone
14	chr16:70495400-70510200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:70495400-70510200	Weak transcription	HSMM	muscle
16	chr16:70495400-70510400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:70495800-70512800	Weak transcription	Right Atrium	heart
18	chr16:70497000-70510200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr16:70497200-70510600	Strong transcription	Lung	lung
20	chr16:70498000-70510200	Weak transcription	HSMMtube	muscle
21	chr16:70498000-70510400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr16:70498200-70510200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:70498200-70511600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr16:70498200-70513600	Weak transcription	Fetal Kidney	kidney
25	chr16:70499200-70510800	Weak transcription	Primary B cells from cord blood	blood
26	chr16:70499400-70510600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr16:70501000-70510400	Weak transcription	Fetal Lung	lung
28	chr16:70501200-70535800	Strong transcription	Fetal Intestine Small	intestine
29	chr16:70501400-70535200	Strong transcription	Fetal Intestine Large	intestine
30	chr16:70501400-70536400	Strong transcription	Fetal Stomach	stomach
31	chr16:70501800-70510200	Weak transcription	Psoas Muscle	Psoas
32	chr16:70502400-70509800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:70502800-70510800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr16:70503000-70512400	Strong transcription	Brain Hippocampus Middle	brain
35	chr16:70503400-70513000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr16:70503800-70522200	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr16:70504200-70510400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr16:70504200-70524800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr16:70504200-70532000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr16:70504400-70535200	Strong transcription	Liver	Liver
41	chr16:70504600-70511000	Strong transcription	Colonic Mucosa	Colon
42	chr16:70505000-70510400	Strong transcription	Right Ventricle	heart
43	chr16:70505200-70512000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr16:70505400-70509800	Weak transcription	A549	lung
45	chr16:70505400-70510200	Weak transcription	HepG2	liver
46	chr16:70505400-70511000	Strong transcription	Spleen	Spleen
47	chr16:70505400-70511800	Weak transcription	Dnd41	blood
48	chr16:70505400-70512200	Weak transcription	Aorta	Aorta
49	chr16:70505800-70515600	Weak transcription	K562	blood
50	chr16:70506000-70510400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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