Variant report

Variant	rs73123251
Chromosome Location	chr7:50599070-50599071
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	FOSL2	chr7:50598946-50599575	MCF-7	breast:	n/a	n/a
2	FOS	chr7:50599049-50599425	MCF10A-Er-Src	breast:	n/a	chr7:50599219-50599230
3	GATA3	chr7:50599066-50599726	T-47D	breast:	n/a	n/a
4	JUND	chr7:50598891-50599555	MCF-7	breast:	n/a	chr7:50599219-50599230 chr7:50599238-50599249
5	FOS	chr7:50599015-50600145	MCF10A-Er-Src	breast:	n/a	chr7:50599219-50599230
6	JUN	chr7:50598893-50599396	Hela-S3	cervix:	n/a	n/a
7	MAX	chr7:50598906-50599651	ECC-1	luminal epithelium:	n/a	n/a
8	JUND	chr7:50598853-50599597	HCT-116	colon:	n/a	chr7:50599219-50599230 chr7:50599238-50599249
9	FOSL2	chr7:50598922-50599577	MCF-7	breast:	n/a	n/a
10	TCF12	chr7:50598847-50599598	ECC-1	luminal epithelium:	n/a	n/a
11	JUND	chr7:50599029-50599477	H1-hESC	embryonic stem cell:	n/a	chr7:50599219-50599230 chr7:50599238-50599249
12	TCF12	chr7:50598963-50599364	H1-hESC	embryonic stem cell:	n/a	n/a
13	FOSL2	chr7:50599027-50599308	HepG2	liver:	n/a	n/a
14	FOSL1	chr7:50598785-50600062	HCT-116	colon:	n/a	chr7:50598796-50598805
15	GATA2	chr7:50599004-50600202	SH-SY5Y	brain:	n/a	chr7:50599767-50599776 chr7:50599020-50599028 chr7:50599018-50599030
16	MXI1	chr7:50598313-50601096	SK-N-SH	brain:	n/a	n/a
17	FOSL2	chr7:50598979-50599537	SK-N-SH	brain:	n/a	n/a
18	JUND	chr7:50598924-50599487	T-47D	breast:	n/a	chr7:50599219-50599230 chr7:50599238-50599249
19	TAF1	chr7:50598983-50600093	H1-neurons	neurons:	n/a	n/a
20	REST	chr7:50598616-50600621	H1-neurons	neurons:	n/a	n/a
21	TCF12	chr7:50598857-50599556	ECC-1	luminal epithelium:	n/a	n/a
22	SMC3	chr7:50599068-50599320	Hela-S3	cervix:	n/a	n/a
23	JUND	chr7:50599063-50599401	K562	blood:	n/a	chr7:50599219-50599230 chr7:50599238-50599249
24	EP300	chr7:50597088-50601096	SK-N-SH	brain:	n/a	chr7:50599946-50599960 chr7:50597383-50597399
25	FOSL1	chr7:50598861-50600052	HCT-116	colon:	n/a	n/a
26	STAT3	chr7:50598768-50599248	MCF10A-Er-Src	breast:	n/a	n/a
27	JUND	chr7:50598966-50599572	T-47D	breast:	n/a	chr7:50599219-50599230 chr7:50599238-50599249
28	POLR2A	chr7:50599031-50599241	H1-hESC	embryonic stem cell:	n/a	n/a
29	FOSL2	chr7:50598916-50599507	A549	lung:	n/a	n/a
30	JUND	chr7:50598938-50599701	MCF-7	breast:	n/a	chr7:50599219-50599230 chr7:50599238-50599249
31	MYC	chr7:50598783-50599433	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr7:50599027-50599318	HCT-116	colon:	n/a	n/a
33	MYC	chr7:50599034-50599507	MCF10A-Er-Src	breast:	n/a	n/a
34	TAF1	chr7:50598869-50600073	H1-neurons	neurons:	n/a	n/a
35	TCF12	chr7:50599058-50599307	H1-hESC	embryonic stem cell:	n/a	n/a
36	EP300	chr7:50598834-50599614	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr7:50598571-50599332	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr7:50598941-50599433	MCF10A-Er-Src	breast:	n/a	chr7:50599219-50599230
39	POLR2A	chr7:50598907-50600312	H1-neurons	neurons:	n/a	n/a
40	FOS	chr7:50598768-50599421	MCF10A-Er-Src	breast:	n/a	chr7:50599219-50599230 chr7:50598796-50598805
41	JUND	chr7:50598996-50599421	Hela-S3	cervix:	n/a	chr7:50599219-50599230 chr7:50599238-50599249
42	REST	chr7:50598920-50600354	H1-neurons	neurons:	n/a	n/a
43	TEAD4	chr7:50598957-50599492	ECC-1	luminal epithelium:	n/a	n/a
44	MAX	chr7:50598940-50599719	MCF-7	breast:	n/a	n/a
45	POLR2A	chr7:50598717-50599146	MCF10A-Er-Src	breast:	n/a	n/a
46	TEAD4	chr7:50598858-50599444	ECC-1	luminal epithelium:	n/a	n/a
47	JUND	chr7:50598869-50599518	HCT-116	colon:	n/a	chr7:50599219-50599230 chr7:50599238-50599249
48	TEAD4	chr7:50599029-50599375	H1-hESC	embryonic stem cell:	n/a	n/a
49	TEAD4	chr7:50598964-50599456	HCT-116	colon:	n/a	n/a
50	POLR2A	chr7:50598873-50600184	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000226122	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1037350	0.87[ASN][1000 genomes]
rs10499691	0.87[ASN][1000 genomes]
rs1107742	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1107743	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575282	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11575286	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11575313	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575321	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575322	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575338	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575349	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575410	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575442	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575521	0.93[ASN][1000 genomes]
rs11575548	0.89[ASN][1000 genomes]
rs11575553	0.87[ASN][1000 genomes]
rs11575562	0.87[ASN][1000 genomes]
rs11976368	0.87[ASN][1000 genomes]
rs11978591	0.87[ASN][1000 genomes]
rs1349491	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1470748	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17133817	0.87[ASN][1000 genomes]
rs17133826	0.87[ASN][1000 genomes]
rs17553036	0.87[ASN][1000 genomes]
rs17634476	0.87[ASN][1000 genomes]
rs17634717	0.89[ASN][1000 genomes]
rs17634958	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17635123	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2100279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122817	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2242041	0.87[ASN][1000 genomes]
rs2329367	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2329369	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2876826	0.87[ASN][1000 genomes]
rs2876830	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3735271	0.82[EUR][1000 genomes]
rs3779081	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3807550	0.82[EUR][1000 genomes]
rs3807551	0.82[EUR][1000 genomes]
rs3807553	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4469405	0.82[EUR][1000 genomes]
rs4585697	0.85[EUR][1000 genomes]
rs4602840	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947710	0.82[EUR][1000 genomes]
rs55834323	0.82[EUR][1000 genomes]
rs56056130	0.87[ASN][1000 genomes]
rs56670620	0.85[EUR][1000 genomes]
rs58129743	0.85[EUR][1000 genomes]
rs67275148	0.85[EUR][1000 genomes]
rs6959427	0.82[ASN][1000 genomes]
rs71018475	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73117270	0.93[ASN][1000 genomes]
rs73119230	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73119239	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73119245	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73119251	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73121271	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73121282	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73121285	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73121287	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73121290	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73121292	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73123220	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123247	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123249	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123254	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123257	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123261	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123264	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123266	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123283	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123285	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123291	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73125208	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73125215	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73125225	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73129082	0.82[EUR][1000 genomes]
rs73129084	0.82[EUR][1000 genomes]
rs73129088	0.82[EUR][1000 genomes]
rs73129091	0.82[EUR][1000 genomes]
rs73129096	0.82[EUR][1000 genomes]
rs73131006	0.82[EUR][1000 genomes]
rs73131008	0.82[EUR][1000 genomes]
rs73131013	0.82[EUR][1000 genomes]
rs73131078	0.82[EUR][1000 genomes]
rs73695642	0.87[ASN][1000 genomes]
rs73695660	0.87[ASN][1000 genomes]
rs73695663	0.87[ASN][1000 genomes]
rs7777600	0.91[ASN][1000 genomes]
rs896308	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9656664	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:50589000-50599200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:50595200-50600000	Enhancers	Pancreas	Pancrea
4	chr7:50595200-50604600	Genic enhancers	Fetal Intestine Small	intestine
5	chr7:50595800-50599400	Enhancers	Fetal Intestine Large	intestine
6	chr7:50596200-50599200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:50597000-50601200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:50597000-50601400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:50597200-50603600	Weak transcription	Liver	Liver
10	chr7:50597400-50600000	Enhancers	Placenta	Placenta
11	chr7:50597400-50601400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:50597800-50601400	Weak transcription	HepG2	liver
13	chr7:50597800-50602400	Weak transcription	Stomach Mucosa	stomach
14	chr7:50598200-50599200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:50598200-50599400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:50598200-50600400	Enhancers	HMEC	breast
17	chr7:50598400-50600200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:50598600-50599400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr7:50598600-50600200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:50598800-50599400	Enhancers	Brain Germinal Matrix	brain
21	chr7:50598800-50599600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:50598800-50599600	Flanking Active TSS	A549	lung
23	chr7:50598800-50599800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr7:50598800-50599800	Enhancers	Hela-S3	cervix
25	chr7:50598800-50599800	Flanking Active TSS	NHEK	skin
26	chr7:50598800-50600000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:50598800-50600000	Enhancers	Fetal Brain Male	brain
28	chr7:50598800-50600200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:50598800-50600200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:50599000-50599200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr7:50599000-50599200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr7:50599000-50599200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:50599000-50599200	Bivalent Enhancer	Osteobl	bone
34	chr7:50599000-50599400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr7:50599000-50599400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr7:50599000-50599600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:50599000-50599600	Enhancers	Gastric	stomach
38	chr7:50599000-50599600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr7:50599000-50599600	Enhancers	K562	blood
40	chr7:50599000-50599800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:50599000-50599800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:50599000-50599800	Enhancers	HUVEC	blood vessel
43	chr7:50599000-50599800	Enhancers	NHDF-Ad	bronchial
44	chr7:50599000-50600000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:50599000-50600000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr7:50599000-50600200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr7:50599000-50600200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:50599000-50600200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr7:50599000-50600200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:50599000-50600200	Enhancers	Brain Angular Gyrus	brain

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