Variant report

Variant	rs8052905
Chromosome Location	chr16:73097663-73097664
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	chr16:73097243-73099093	MCF10A-Er-Src	breast:	n/a	n/a
2	SUZ12	chr16:73096034-73102137	NT2-D1	testis:	n/a	n/a
3	POLR2A	chr16:73095648-73098510	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr16:73096250-73099162	Hela-S3	cervix:	n/a	n/a
5	E2F6	chr16:73096716-73098414	H1-hESC	embryonic stem cell:	n/a	chr16:73098299-73098309 chr16:73097913-73097920 chr16:73097910-73097927
6	CTBP2	chr16:73096543-73098376	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr16:73097471-73098459	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr16:73094812-73101535	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:72865444..72867125-chr16:73097425..73099018,2	MCF-7	breast:
2	chr16:72808782..72811039-chr16:73094813..73097689,2	MCF-7	breast:
3	chr16:72949102..72951927-chr16:73096554..73098630,2	MCF-7	breast:
4	chr16:72878570..72880938-chr16:73094933..73097735,2	MCF-7	breast:

Variant related genes	Relation type
ZFHX3	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs62055077	0.96[ASN][1000 genomes]
rs62055081	0.96[ASN][1000 genomes]
rs62055082	0.98[EUR][1000 genomes]
rs62055083	0.96[ASN][1000 genomes]
rs62055085	0.96[ASN][1000 genomes]
rs62055087	0.96[ASN][1000 genomes]
rs62055088	0.96[ASN][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	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv827730	chr16:73066699-73115642	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv827732	chr16:73069343-73116594	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv827733	chr16:73075114-73103721	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv1815924	chr16:73085286-73105415	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv1837302	chr16:73091679-73102456	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73087800-73099200	Active TSS	Aorta	Aorta
2	chr16:73093200-73098600	Weak transcription	Lung	lung
3	chr16:73093200-73100600	Weak transcription	Gastric	stomach
4	chr16:73093400-73098000	Weak transcription	Pancreas	Pancrea
5	chr16:73094400-73098000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr16:73094800-73098200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:73095000-73099200	Weak transcription	Colon Smooth Muscle	Colon
8	chr16:73095200-73100200	Weak transcription	Psoas Muscle	Psoas
9	chr16:73095600-73098200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr16:73095800-73098000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
11	chr16:73096000-73098000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:73096000-73098400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:73096000-73100000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr16:73096200-73098200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:73096400-73098600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr16:73096400-73099400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:73096400-73099600	Bivalent Enhancer	Fetal Intestine Small	intestine
18	chr16:73096600-73097800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr16:73096600-73098000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr16:73096600-73098000	Enhancers	HUVEC	blood vessel
21	chr16:73096600-73100600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr16:73096600-73101000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr16:73096800-73097800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr16:73096800-73098000	Enhancers	HMEC	breast
25	chr16:73096800-73098200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr16:73096800-73099000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:73096800-73099200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr16:73096800-73100200	Bivalent Enhancer	Fetal Stomach	stomach
29	chr16:73097000-73098000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr16:73097000-73098000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr16:73097000-73098000	Bivalent Enhancer	Fetal Lung	lung
32	chr16:73097000-73098200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
33	chr16:73097000-73098200	Bivalent Enhancer	Liver	Liver
34	chr16:73097000-73098400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
35	chr16:73097000-73099200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
36	chr16:73097000-73099600	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr16:73097000-73099800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
38	chr16:73097000-73100200	Bivalent Enhancer	Fetal Heart	heart
39	chr16:73097000-73100600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr16:73097000-73100800	Bivalent Enhancer	Primary B cells from cord blood	blood
41	chr16:73097200-73097800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr16:73097200-73097800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr16:73097200-73098000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
44	chr16:73097200-73098000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:73097200-73098000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr16:73097200-73098200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
47	chr16:73097200-73098200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:73097200-73098200	Weak transcription	Ovary	ovary
49	chr16:73097200-73098400	Enhancers	Right Ventricle	heart
50	chr16:73097200-73099400	Flanking Active TSS	NHLF	lung

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