Variant report

Variant	rs4075606
Chromosome Location	chr17:16890819-16890820
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	CREB1	chr17:16890672-16893475	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:16890790-16890907	GM12878	blood:	n/a	n/a
3	RELA	chr17:16890608-16893842	GM18951	blood:	n/a	n/a
4	POLR2A	chr17:16890553-16893726	GM18505	blood:	n/a	n/a
5	STAT5A	chr17:16890470-16893892	GM12878	blood:	n/a	chr17:16891003-16891015
6	POLR2A	chr17:16890482-16893849	GM19099	blood:	n/a	n/a
7	POLR2A	chr17:16890382-16893736	GM12892	blood:	n/a	n/a
8	POLR2A	chr17:16890500-16893888	GM19193	blood:	n/a	n/a
9	POLR2A	chr17:16890638-16893409	GM15510	blood:	n/a	n/a
10	MTA3	chr17:16890463-16893433	GM12878	blood:	n/a	n/a
11	POLR2A	chr17:16890813-16893865	GM12891	blood:	n/a	n/a
12	POLR2A	chr17:16890561-16893489	GM18526	blood:	n/a	n/a
13	POLR2A	chr17:16890683-16893471	GM12878	blood:	n/a	n/a
14	POLR2A	chr17:16890506-16893761	GM18951	blood:	n/a	n/a
15	POLR2A	chr17:16890335-16893995	GM12878	blood:	n/a	n/a
16	MTA3	chr17:16890342-16895342	GM12878	blood:	n/a	n/a
17	POLR2A	chr17:16890562-16893788	GM12892	blood:	n/a	n/a
18	POLR2A	chr17:16890409-16893871	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16890452..16892957-chr17:17108135..17110227,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230969	TF binding region
ENSG00000179598	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4985757	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4985762	1.00[ASN][1000 genomes]
rs6502547	1.00[ASN][1000 genomes]
rs6502548	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7220753	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7503780	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9903427	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2761948	chr17:16868561-16920568	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv543230	chr17:16878578-16892465	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16885800-16891000	Weak transcription	Fetal Heart	heart
2	chr17:16888400-16891800	Enhancers	Dnd41	blood
3	chr17:16888400-16892000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:16889200-16891600	Enhancers	Primary B cells from peripheral blood	blood
5	chr17:16889800-16892000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr17:16889800-16892200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:16889800-16893000	Enhancers	Fetal Muscle Trunk	muscle
8	chr17:16889800-16895000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr17:16889800-16895200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr17:16889800-16895800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:16890000-16891000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:16890000-16891000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:16890000-16891200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr17:16890000-16891200	Weak transcription	HSMM	muscle
15	chr17:16890000-16893800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:16890000-16894200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr17:16890000-16895200	Enhancers	Fetal Thymus	thymus
18	chr17:16890200-16891200	Weak transcription	A549	lung
19	chr17:16890200-16891200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr17:16890200-16891400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr17:16890200-16891400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr17:16890400-16891400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr17:16890400-16891600	Enhancers	Primary B cells from cord blood	blood
24	chr17:16890400-16894800	Enhancers	NHDF-Ad	bronchial
25	chr17:16890400-16895000	Enhancers	Placenta	Placenta
26	chr17:16890600-16891200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr17:16890600-16891200	Enhancers	Brain Anterior Caudate	brain
28	chr17:16890600-16891200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr17:16890600-16891400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:16890600-16891400	Enhancers	Adipose Nuclei	Adipose
31	chr17:16890600-16891600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr17:16890600-16891600	Flanking Active TSS	GM12878-XiMat	blood
33	chr17:16890600-16891800	Enhancers	Duodenum Mucosa	Duodenum
34	chr17:16890600-16892600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr17:16890600-16893600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr17:16890600-16894000	Enhancers	Primary hematopoietic stem cells	blood
37	chr17:16890600-16895200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr17:16890600-16895200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr17:16890600-16895200	Enhancers	Thymus	Thymus
40	chr17:16890800-16891200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr17:16890800-16891400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr17:16890800-16891400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr17:16890800-16891600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr17:16890800-16891800	Enhancers	Brain Hippocampus Middle	brain
45	chr17:16890800-16892000	Enhancers	Brain Cingulate Gyrus	brain
46	chr17:16890800-16892200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr17:16890800-16892600	Enhancers	NH-A	brain
48	chr17:16890800-16893200	Enhancers	Skeletal Muscle Male	skeletal muscle

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