Variant report

Variant	rs72760655
Chromosome Location	chr9:116916214-116916215
allele	A/C
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	chr9:116915956-116916342	HepG2	liver:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
2	CTCF	chr9:116916080-116916230	BE2_C	brain:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
3	ZBTB7A	chr9:116916101-116916464	HepG2	liver:	n/a	chr9:116916318-116916327
4	HEY1	chr9:116915966-116916782	HepG2	liver:	n/a	chr9:116916468-116916483 chr9:116916552-116916567
5	TAF1	chr9:116916080-116916426	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr9:116916140-116916290	BJ	skin:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
7	CTCF	chr9:116916071-116916300	A549	lung:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
8	EP300	chr9:116916056-116916908	HepG2	liver:	n/a	chr9:116916563-116916579 chr9:116916396-116916412
9	HDAC2	chr9:116916050-116916651	HepG2	liver:	n/a	n/a
10	EGR1	chr9:116915943-116916238	K562	blood:	n/a	chr9:116916070-116916083 chr9:116916078-116916088 chr9:116916070-116916083 chr9:116916072-116916082 chr9:116916069-116916084 chr9:116916073-116916082 chr9:116916078-116916093 chr9:116916070-116916083 chr9:116916082-116916091 chr9:116916070-116916083
11	CTCF	chr9:116916100-116916250	HCPEpiC	choroid plexus:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
12	ARID3A	chr9:116916117-116916350	HepG2	liver:	n/a	n/a
13	CTCF	chr9:116916080-116916230	GM12865	blood:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
14	MAX	chr9:116915954-116916467	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr9:116916080-116916230	NHDF-neo	bronchial:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
16	TCF7L2	chr9:116915999-116917215	HCT-116	colon:	n/a	chr9:116916342-116916356
17	MAX	chr9:116916027-116916463	HepG2	liver:	n/a	n/a
18	CTBP2	chr9:116915982-116917075	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYBL2	chr9:116915894-116917041	HepG2	liver:	n/a	n/a
20	CTCF	chr9:116916100-116916250	AG04450	lung:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
21	MAX	chr9:116915821-116917349	A549	lung:	n/a	n/a
22	RAD21	chr9:116916029-116916340	H1-hESC	embryonic stem cell:	n/a	chr9:116916330-116916340 chr9:116916162-116916181 chr9:116916164-116916176 chr9:116916166-116916176
23	POLR2A	chr9:116916056-116916554	HepG2	liver:	n/a	n/a
24	CTCF	chr9:116915987-116916456	HepG2	liver:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
25	NFIC	chr9:116916040-116916440	HepG2	liver:	n/a	n/a
26	CTCF	chr9:116916160-116916310	HEK293	kidney:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
27	RAD21	chr9:116915923-116916435	H1-hESC	embryonic stem cell:	n/a	chr9:116916389-116916399 chr9:116916330-116916340 chr9:116916162-116916181 chr9:116916164-116916176 chr9:116916166-116916176
28	MYC	chr9:116915974-116916612	HepG2	liver:	n/a	n/a
29	CTCF	chr9:116916100-116916250	NHLF	lung:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
30	CTCF	chr9:116915991-116916381	H1-hESC	embryonic stem cell:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
31	CTCF	chr9:116916016-116916397	IMR90	lung:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
32	CTCF	chr9:116916120-116916270	HBMEC	blood vessel:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
33	CTCF	chr9:116916030-116916312	SK-N-SH_RA	brain:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
34	TCF7L2	chr9:116916096-116916549	MCF-7	breast:	n/a	chr9:116916342-116916356
35	CTCF	chr9:116915996-116916328	T-47D	breast:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
36	E2F6	chr9:116916088-116916804	H1-hESC	embryonic stem cell:	n/a	chr9:116916553-116916562 chr9:116916325-116916337 chr9:116916328-116916337 chr9:116916702-116916716
37	EGR1	chr9:116915892-116916297	ECC-1	luminal epithelium:	n/a	chr9:116916070-116916083 chr9:116916078-116916088 chr9:116916070-116916083 chr9:116916072-116916082 chr9:116916069-116916084 chr9:116916073-116916082 chr9:116916078-116916093 chr9:116916070-116916083 chr9:116916082-116916091 chr9:116916070-116916083
38	CTCF	chr9:116916140-116916290	HAc	cerebellar:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
39	TAF1	chr9:116916016-116916592	HepG2	liver:	n/a	n/a
40	CTCF	chr9:116916140-116916290	SAEC	small airway:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
41	MAZ	chr9:116915766-116920871	IMR90	lung:	n/a	chr9:116917994-116918004 chr9:116918626-116918636 chr9:116920321-116920330 chr9:116919415-116919424 chr9:116917529-116917539
42	CTCF	chr9:116916018-116916283	A549	lung:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
43	EGR1	chr9:116915946-116916328	H1-hESC	embryonic stem cell:	n/a	chr9:116916070-116916083 chr9:116916078-116916088 chr9:116916070-116916083 chr9:116916072-116916082 chr9:116916069-116916084 chr9:116916073-116916082 chr9:116916078-116916093 chr9:116916070-116916083 chr9:116916082-116916091 chr9:116916070-116916083
44	CTCF	chr9:116916080-116916230	HFF-Myc	foreskin:	n/a	chr9:116916166-116916179 chr9:116916164-116916182
45	CTCF	chr9:116916200-116916350	GM06990	blood:	n/a	n/a
46	POLR2A	chr9:116915999-116917156	HepG2	liver:	n/a	n/a
47	RAD21	chr9:116916084-116916320	A549	lung:	n/a	chr9:116916162-116916181 chr9:116916164-116916176 chr9:116916166-116916176
48	MBD4	chr9:116916069-116916450	HepG2	liver:	n/a	n/a
49	BRCA1	chr9:116916125-116916314	HepG2	liver:	n/a	n/a
50	CTCF	chr9:116916095-116916292	Kidney_OC	kidney:	n/a	chr9:116916166-116916179 chr9:116916164-116916182

No.	Distal block	Cell Line	Cell type
1	chr9:116869949..116870838-chr9:116915614..116916621,9	MCF-7	breast:
2	chr9:116914824..116917398-chr9:116971543..116973662,2	MCF-7	breast:
3	chr9:116909854..116913482-chr9:116913961..116916713,3	MCF-7	breast:
4	chr9:116869891..116870803-chr9:116915238..116916605,3	MCF-7	breast:

Variant related genes	Relation type
COL27A1	TF binding region
ENSG00000207726	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12552028	0.89[EUR][1000 genomes]
rs12555894	0.83[ASN][1000 genomes]
rs1469598	0.91[ASN][1000 genomes]
rs7023173	0.86[EUR][1000 genomes]
rs7023177	0.86[EUR][1000 genomes]
rs7023208	0.86[EUR][1000 genomes]
rs737142	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
4	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
5	nsv870215	chr9:116842614-117070344	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	124 gene(s)	inside rSNPs	diseases
6	nsv893752	chr9:116899258-116944333	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv466526	chr9:116901926-116924781	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv615226	chr9:116901926-116924781	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv615227	chr9:116904534-116924781	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv466527	chr9:116907448-116933449	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv615228	chr9:116907448-116933449	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv466529	chr9:116907553-116930194	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv615229	chr9:116907553-116930194	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116914000-116916600	Enhancers	Liver	Liver
2	chr9:116915400-116916600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr9:116915800-116916600	Bivalent Enhancer	Fetal Lung	lung
4	chr9:116915800-116916800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:116915800-116916800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr9:116915800-116916800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr9:116915800-116916800	Enhancers	Fetal Heart	heart
8	chr9:116915800-116916800	Active TSS	Stomach Mucosa	stomach
9	chr9:116915800-116917400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
10	chr9:116915800-116917600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr9:116916000-116916400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:116916000-116916400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr9:116916000-116916400	Bivalent Enhancer	Colonic Mucosa	Colon
14	chr9:116916000-116916400	Bivalent Enhancer	Colon Smooth Muscle	Colon
15	chr9:116916000-116916400	Bivalent Enhancer	Esophagus	oesophagus
16	chr9:116916000-116916600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr9:116916000-116916600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:116916000-116916600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
19	chr9:116916000-116916600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:116916000-116916600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:116916000-116916600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr9:116916000-116916600	Bivalent Enhancer	Placenta	Placenta
23	chr9:116916000-116916600	Enhancers	Gastric	stomach
24	chr9:116916000-116916600	Active TSS	Ovary	ovary
25	chr9:116916000-116916600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
26	chr9:116916000-116916600	Active TSS	Right Atrium	heart
27	chr9:116916000-116916600	Active TSS	HepG2	liver
28	chr9:116916000-116916800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr9:116916000-116916800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:116916000-116916800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr9:116916000-116916800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr9:116916000-116916800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
33	chr9:116916000-116916800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr9:116916000-116916800	Bivalent Enhancer	Adipose Nuclei	Adipose
35	chr9:116916000-116916800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
36	chr9:116916000-116916800	Bivalent Enhancer	Fetal Brain Male	brain
37	chr9:116916000-116917000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:116916000-116917000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
39	chr9:116916000-116917200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:116916000-116917200	Enhancers	Lung	lung
41	chr9:116916000-116917400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:116916000-116917400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
43	chr9:116916000-116917400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
44	chr9:116916000-116917600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
45	chr9:116916000-116917600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
46	chr9:116916000-116917800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr9:116916000-116917800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr9:116916200-116916400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:116916200-116916400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr9:116916200-116916400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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