Variant report

Variant	rs36048465
Chromosome Location	chr4:30950731-30950732
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	STAT3	chr4:30950203-30950757	MCF10A-Er-Src	breast:	n/a	n/a
2	TCF7L2	chr4:30950087-30950773	Hela-S3	cervix:	n/a	chr4:30950338-30950352 chr4:30950337-30950353 chr4:30950337-30950353 chr4:30950341-30950350
3	TCF7L2	chr4:30950084-30950794	HEK293	kidney:	n/a	chr4:30950338-30950352 chr4:30950337-30950353 chr4:30950337-30950353 chr4:30950341-30950350
4	JUND	chr4:30950095-30950928	HCT-116	colon:	n/a	chr4:30950397-30950409
5	TEAD4	chr4:30950220-30950781	HCT-116	colon:	n/a	n/a
6	JUND	chr4:30950173-30950801	HCT-116	colon:	n/a	chr4:30950397-30950409
7	KAP1	chr4:30950273-30950751	HEK293	kidney:	n/a	n/a
8	TEAD4	chr4:30950243-30950738	HCT-116	colon:	n/a	n/a
9	SIN3AK20	chr4:30950189-30950776	HCT-116	colon:	n/a	n/a
10	STAT3	chr4:30950232-30950736	MCF10A-Er-Src	breast:	n/a	n/a
11	JUN	chr4:30950215-30950780	Hela-S3	cervix:	n/a	chr4:30950397-30950409
12	FOSL1	chr4:30950066-30950766	HCT-116	colon:	n/a	chr4:30950397-30950409
13	KAP1	chr4:30950244-30950764	U2OS	brain:	n/a	n/a
14	FOSL1	chr4:30949983-30950846	HCT-116	colon:	n/a	chr4:30950397-30950409
15	RAD21	chr4:30950223-30950889	HCT-116	colon:	n/a	n/a
16	SRF	chr4:30950134-30950965	HCT-116	colon:	n/a	n/a
17	STAT3	chr4:30950192-30950747	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr4:30950011-30950804	HCT-116	colon:	n/a	n/a
19	MAX	chr4:30950080-30950789	HCT-116	colon:	n/a	n/a
20	CBX3	chr4:30950094-30950771	HCT-116	colon:	n/a	chr4:30950155-30950166
21	CEBPB	chr4:30950012-30950922	HCT-116	colon:	n/a	n/a
22	FOS	chr4:30950204-30950773	MCF10A-Er-Src	breast:	n/a	chr4:30950397-30950409
23	SP1	chr4:30949999-30950941	HCT-116	colon:	n/a	n/a
24	FOS	chr4:30950181-30950773	MCF10A-Er-Src	breast:	n/a	chr4:30950397-30950409
25	SP1	chr4:30950014-30950870	HCT-116	colon:	n/a	n/a
26	CBX3	chr4:30950133-30950843	HCT-116	colon:	n/a	chr4:30950155-30950166
27	CEBPB	chr4:30950142-30950762	Hela-S3	cervix:	n/a	n/a
28	RAD21	chr4:30950104-30950798	HCT-116	colon:	n/a	n/a
29	ATF3	chr4:30950197-30950798	HCT-116	colon:	n/a	n/a
30	FOS	chr4:30950208-30950734	Hela-S3	cervix:	n/a	chr4:30950397-30950409
31	EP300	chr4:30950134-30950791	Hela-S3	cervix:	n/a	chr4:30950410-30950424
32	BRCA1	chr4:30950144-30950759	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
PCDH7	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10939323	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10939324	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12640768	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12641436	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12642486	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12643430	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12650559	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13101341	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13102961	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13116866	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13123857	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13123980	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13137108	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28373466	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34280337	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34317883	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34347677	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35231537	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35427881	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35580687	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4359861	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4386561	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4692106	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4692108	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4692482	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4692486	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5014904	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56829853	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58637784	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59134115	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67044628	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67502847	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72619194	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72619195	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72619196	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72619197	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72619198	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72619199	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30928600-30997400	Weak transcription	Fetal Lung	lung
2	chr4:30941600-30951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:30945000-30952400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:30945200-30954000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:30945400-30954600	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:30947400-30952200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:30947600-30952600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:30947800-30951600	Weak transcription	Fetal Intestine Large	intestine
9	chr4:30947800-30952000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:30948200-30951600	Weak transcription	Fetal Intestine Small	intestine
11	chr4:30948200-30951800	Weak transcription	Left Ventricle	heart
12	chr4:30948200-30953000	Weak transcription	Aorta	Aorta
13	chr4:30948200-30954200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:30948200-30956000	Weak transcription	Fetal Heart	heart
15	chr4:30949400-30955800	Enhancers	Hela-S3	cervix
16	chr4:30950200-30951000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:30950400-30950800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:30950400-30950800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr4:30950400-30950800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:30950400-30952000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:30950400-30952800	Enhancers	NHEK	skin
22	chr4:30950400-30954800	Enhancers	HMEC	breast
23	chr4:30950600-30951200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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