Variant report

Variant	rs73017545
Chromosome Location	chr4:187650191-187650192
allele	G/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	POLR2A	chr4:187649722-187650265	HCT-116	colon:	n/a	n/a
2	ARID3A	chr4:187649765-187650416	HepG2	liver:	n/a	n/a
3	FOSL2	chr4:187650000-187650417	A549	lung:	n/a	chr4:187650124-187650134 chr4:187650307-187650319 chr4:187650124-187650134 chr4:187650309-187650317 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650125-187650133
4	RAD21	chr4:187649968-187650526	IMR90	lung:	n/a	n/a
5	MAX	chr4:187649916-187650313	Hela-S3	cervix:	n/a	n/a
6	SP1	chr4:187649933-187650439	A549	lung:	n/a	n/a
7	MYC	chr4:187649862-187650490	MCF10A-Er-Src	breast:	n/a	n/a
8	MAFF	chr4:187649885-187650424	HepG2	liver:	n/a	n/a
9	MYBL2	chr4:187649671-187650366	HepG2	liver:	n/a	n/a
10	STAT3	chr4:187649746-187650576	MCF10A-Er-Src	breast:	n/a	n/a
11	FOSL1	chr4:187646504-187650649	HCT-116	colon:	n/a	chr4:187650124-187650134 chr4:187650307-187650319 chr4:187650124-187650134 chr4:187650409-187650420 chr4:187647502-187647510 chr4:187650309-187650317 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650125-187650133
12	SIN3AK20	chr4:187648753-187650409	HCT-116	colon:	n/a	n/a
13	FOS	chr4:187649501-187650562	MCF10A-Er-Src	breast:	n/a	chr4:187650124-187650134 chr4:187650307-187650319 chr4:187650124-187650134 chr4:187650409-187650420 chr4:187650309-187650317 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650125-187650133 chr4:187650307-187650318
14	STAT3	chr4:187650006-187650468	MCF10A-Er-Src	breast:	n/a	n/a
15	ELF1	chr4:187649176-187650449	HCT-116	colon:	n/a	n/a
16	MAX	chr4:187649652-187650264	HepG2	liver:	n/a	n/a
17	MAFK	chr4:187650061-187650478	Hela-S3	cervix:	n/a	chr4:187650307-187650316 chr4:187650175-187650190
18	FOSL2	chr4:187649858-187650515	A549	lung:	n/a	chr4:187650124-187650134 chr4:187650307-187650319 chr4:187650124-187650134 chr4:187650409-187650420 chr4:187650309-187650317 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650125-187650133
19	TCF7L2	chr4:187649541-187650506	Hela-S3	cervix:	n/a	chr4:187650125-187650134 chr4:187650308-187650317
20	EP300	chr4:187649754-187650268	HepG2	liver:	n/a	n/a
21	EP300	chr4:187649722-187650386	HepG2	liver:	n/a	n/a
22	CEBPB	chr4:187648934-187650710	HCT-116	colon:	n/a	n/a
23	EP300	chr4:187649874-187650501	A549	lung:	n/a	n/a
24	JUND	chr4:187648806-187650644	HCT-116	colon:	n/a	chr4:187650124-187650134 chr4:187650307-187650319 chr4:187650124-187650134 chr4:187650409-187650420 chr4:187650309-187650317 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650125-187650133
25	SP1	chr4:187648699-187650734	HCT-116	colon:	n/a	chr4:187649232-187649246
26	STAT3	chr4:187649766-187650674	MCF10A-Er-Src	breast:	n/a	n/a
27	JUND	chr4:187649839-187650328	HepG2	liver:	n/a	chr4:187650124-187650134 chr4:187650307-187650319 chr4:187650124-187650134 chr4:187650309-187650317 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650125-187650133
28	MAX	chr4:187648743-187650614	HCT-116	colon:	n/a	n/a
29	MAFK	chr4:187650029-187650363	HepG2	liver:	n/a	chr4:187650307-187650316 chr4:187650175-187650190
30	SP1	chr4:187648885-187650613	HCT-116	colon:	n/a	chr4:187649232-187649246
31	RAD21	chr4:187648956-187650770	HCT-116	colon:	n/a	n/a
32	JUND	chr4:187649026-187650591	HCT-116	colon:	n/a	chr4:187650124-187650134 chr4:187650307-187650319 chr4:187650124-187650134 chr4:187650409-187650420 chr4:187650309-187650317 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650125-187650133
33	SMC3	chr4:187649320-187650305	HepG2	liver:	n/a	n/a
34	MAFK	chr4:187649907-187650424	HepG2	liver:	n/a	chr4:187650307-187650316 chr4:187650175-187650190
35	TCF12	chr4:187649712-187650602	A549	lung:	n/a	n/a
36	FOS	chr4:187649897-187650556	MCF10A-Er-Src	breast:	n/a	chr4:187650124-187650134 chr4:187650307-187650319 chr4:187650124-187650134 chr4:187650409-187650420 chr4:187650309-187650317 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650125-187650133 chr4:187650307-187650318
37	RAD21	chr4:187649962-187650412	Hela-S3	cervix:	n/a	n/a
38	RAD21	chr4:187649051-187650451	HCT-116	colon:	n/a	n/a
39	POLR2A	chr4:187649996-187650393	MCF10A-Er-Src	breast:	n/a	n/a
40	TCF7L2	chr4:187649788-187650475	HCT-116	colon:	n/a	chr4:187650125-187650134 chr4:187650308-187650317
41	STAT3	chr4:187650029-187650459	Hela-S3	cervix:	n/a	n/a
42	EP300	chr4:187649751-187650453	A549	lung:	n/a	n/a
43	TEAD4	chr4:187649676-187650245	HepG2	liver:	n/a	n/a
44	FOS	chr4:187650024-187650501	MCF10A-Er-Src	breast:	n/a	chr4:187650124-187650134 chr4:187650307-187650319 chr4:187650124-187650134 chr4:187650409-187650420 chr4:187650309-187650317 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650125-187650133 chr4:187650307-187650318
45	CEBPB	chr4:187649872-187650443	Hela-S3	cervix:	n/a	n/a
46	GATA3	chr4:187649796-187650467	A549	lung:	n/a	n/a
47	CBX3	chr4:187646561-187650600	HCT-116	colon:	n/a	n/a
48	MAFK	chr4:187650073-187650397	IMR90	lung:	n/a	chr4:187650307-187650316 chr4:187650175-187650190
49	TEAD4	chr4:187649741-187650395	HCT-116	colon:	n/a	n/a
50	FOS	chr4:187649902-187650488	MCF10A-Er-Src	breast:	n/a	chr4:187650124-187650134 chr4:187650307-187650319 chr4:187650124-187650134 chr4:187650409-187650420 chr4:187650309-187650317 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650125-187650133 chr4:187650307-187650318

No.	Distal block	Cell Line	Cell type
1	chr4:187648173..187650328-chr4:187707410..187709180,2	MCF-7	breast:
2	chr4:187648351..187650879-chr4:187855816..187858244,2	MCF-7	breast:
3	chr4:187642627..187645169-chr4:187647943..187651570,4	MCF-7	breast:

Variant related genes	Relation type
FAT1	TF binding region
ENSG00000083857	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12498261	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276929	0.96[ASN][1000 genomes]
rs28666848	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57818855	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62342734	1.00[ASN][1000 genomes]
rs73017551	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7673895	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs960760	0.94[ASN][1000 genomes]
rs960761	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1031603	chr4:187636716-188020741	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv822892	chr4:187640281-187653074	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv822893	chr4:187642198-187652700	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187648400-187650400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:187648400-187650400	Weak transcription	Esophagus	oesophagus
3	chr4:187648600-187650200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:187648600-187650200	Enhancers	Liver	Liver
5	chr4:187648600-187650200	Flanking Active TSS	NHEK	skin
6	chr4:187648800-187650600	Flanking Active TSS	A549	lung
7	chr4:187648800-187651200	Enhancers	Hela-S3	cervix
8	chr4:187649000-187650200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:187649000-187650600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:187649000-187650600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:187649000-187650600	Enhancers	Fetal Lung	lung
12	chr4:187649000-187652200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:187649000-187654800	Weak transcription	Aorta	Aorta
14	chr4:187649200-187650200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:187649200-187650400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:187649400-187650200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr4:187649400-187650200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr4:187649400-187650200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:187649400-187650200	Flanking Active TSS	HMEC	breast
20	chr4:187649400-187650200	Weak transcription	HSMM	muscle
21	chr4:187649400-187650600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:187649400-187650600	Enhancers	NHLF	lung
23	chr4:187649400-187651600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:187649400-187651800	Enhancers	Fetal Intestine Large	intestine
25	chr4:187649600-187650200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr4:187649600-187650200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:187649600-187650200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr4:187649600-187650200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:187649600-187650200	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr4:187649600-187651200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr4:187649600-187652200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:187649600-187652200	Enhancers	Stomach Mucosa	stomach
33	chr4:187649600-187652400	Enhancers	HepG2	liver
34	chr4:187649800-187650200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:187649800-187650200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:187649800-187650200	Flanking Active TSS	NH-A	brain
37	chr4:187649800-187650400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:187649800-187650400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr4:187649800-187650400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:187649800-187650600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:187649800-187651400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:187650000-187650200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:187650000-187650200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr4:187650000-187650200	Flanking Active TSS	NHDF-Ad	bronchial
45	chr4:187650000-187650400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:187650000-187650400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:187650000-187650400	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr4:187650000-187650400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr4:187650000-187650600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:187650000-187650600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links