Variant report

Variant	rs17029292
Chromosome Location	chr4:100579081-100579082
allele	C/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	FOS	chr4:100578895-100579317	MCF10A-Er-Src	breast:	n/a	chr4:100579206-100579214 chr4:100579204-100579216 chr4:100579206-100579213 chr4:100579206-100579214 chr4:100579205-100579215 chr4:100579205-100579215 chr4:100579205-100579215
2	CEBPB	chr4:100578815-100579378	Hela-S3	cervix:	n/a	n/a
3	FOS	chr4:100578922-100579276	MCF10A-Er-Src	breast:	n/a	chr4:100579206-100579214 chr4:100579204-100579216 chr4:100579206-100579213 chr4:100579206-100579214 chr4:100579205-100579215 chr4:100579205-100579215 chr4:100579205-100579215
4	STAT3	chr4:100578924-100579124	MCF10A-Er-Src	breast:	n/a	chr4:100579082-100579090
5	POLR2A	chr4:100579080-100579278	MCF10A-Er-Src	breast:	n/a	n/a
6	CHD2	chr4:100578949-100579312	Hela-S3	cervix:	n/a	n/a
7	STAT3	chr4:100578990-100579192	MCF10A-Er-Src	breast:	n/a	chr4:100579082-100579090
8	FOS	chr4:100578914-100579368	MCF10A-Er-Src	breast:	n/a	chr4:100579206-100579214 chr4:100579204-100579216 chr4:100579206-100579213 chr4:100579206-100579214 chr4:100579205-100579215 chr4:100579205-100579215 chr4:100579205-100579215
9	STAT3	chr4:100578924-100579160	MCF10A-Er-Src	breast:	n/a	chr4:100579082-100579090
10	CEBPB	chr4:100578953-100579191	MCF-7	breast:	n/a	n/a
11	BRCA1	chr4:100578885-100579363	Hela-S3	cervix:	n/a	n/a
12	STAT3	chr4:100579048-100579255	MCF10A-Er-Src	breast:	n/a	chr4:100579082-100579090
13	MYC	chr4:100578922-100579242	MCF10A-Er-Src	breast:	n/a	chr4:100578995-100579004 chr4:100579206-100579215
14	PRDM1	chr4:100579035-100579394	Hela-S3	cervix:	n/a	chr4:100579236-100579245
15	STAT3	chr4:100578909-100579327	MCF10A-Er-Src	breast:	n/a	chr4:100579252-100579263 chr4:100579082-100579090
16	MYC	chr4:100579017-100579248	MCF10A-Er-Src	breast:	n/a	chr4:100579206-100579215
17	EP300	chr4:100578855-100579435	Hela-S3	cervix:	n/a	chr4:100579206-100579215
18	POLR2A	chr4:100579059-100579233	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr4:100578904-100579329	Hela-S3	cervix:	n/a	chr4:100579252-100579263 chr4:100579082-100579090
20	CEBPB	chr4:100578902-100579372	MCF-7	breast:	n/a	n/a
21	FOS	chr4:100578947-100579268	Hela-S3	cervix:	n/a	chr4:100579206-100579214 chr4:100579204-100579216 chr4:100579206-100579213 chr4:100579206-100579214 chr4:100579205-100579215 chr4:100579205-100579215 chr4:100579205-100579215
22	FOS	chr4:100578914-100579332	MCF10A-Er-Src	breast:	n/a	chr4:100579206-100579214 chr4:100579204-100579216 chr4:100579206-100579213 chr4:100579206-100579214 chr4:100579205-100579215 chr4:100579205-100579215 chr4:100579205-100579215
23	JUND	chr4:100578938-100579380	Hela-S3	cervix:	n/a	chr4:100579206-100579214 chr4:100579204-100579216 chr4:100579206-100579213 chr4:100579206-100579214 chr4:100579205-100579215 chr4:100579205-100579215 chr4:100579205-100579215

No.	Distal block	Cell Line	Cell type
1	chr4:100578815..100580897-chr4:100583888..100586485,2	MCF-7	breast:
2	chr4:100483290..100486272-chr4:100578669..100581386,2	MCF-7	breast:
3	chr4:100483263..100486375-chr4:100577778..100581735,3	MCF-7	breast:
4	chr4:100578732..100580986-chr4:100870236..100872314,2	K562	blood:

Variant related genes	Relation type
ENSG00000248713	TF binding region
ENSG00000245322	Chromatin interaction
ENSG00000145331	Chromatin interaction
ENSG00000138823	Chromatin interaction
ENSG00000164032	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10516446	0.88[ASN][1000 genomes]
rs11097667	0.81[ASN][1000 genomes]
rs11097669	0.80[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12643429	0.88[ASN][1000 genomes]
rs12647527	0.80[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12648918	0.86[ASN][1000 genomes]
rs1352777	0.86[ASN][1000 genomes]
rs17029135	0.81[ASN][1000 genomes]
rs17029142	0.80[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs17029165	0.86[ASN][1000 genomes]
rs17029251	0.81[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs17029277	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2298747	0.86[ASN][1000 genomes]
rs2306984	0.86[ASN][1000 genomes]
rs3792681	0.81[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs3828542	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4235440	0.86[ASN][1000 genomes]
rs4699384	0.97[ASN][1000 genomes]
rs4699385	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4699754	0.81[ASN][1000 genomes]
rs4699756	0.86[ASN][1000 genomes]
rs61074475	0.86[ASN][1000 genomes]
rs6817049	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6858032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6858700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72906793	0.81[ASN][1000 genomes]
rs72908710	0.86[ASN][1000 genomes]
rs72908716	0.86[ASN][1000 genomes]
rs72908742	0.95[ASN][1000 genomes]
rs871321	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs881980	0.80[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs931465	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs956200	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100567800-100579200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:100575800-100579800	Weak transcription	Right Atrium	heart
3	chr4:100576000-100579400	Weak transcription	Psoas Muscle	Psoas
4	chr4:100576800-100579200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:100577000-100579400	Weak transcription	Brain Anterior Caudate	brain
6	chr4:100577000-100579800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:100577200-100579400	Weak transcription	HSMMtube	muscle
8	chr4:100577200-100580200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:100577200-100580600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr4:100577400-100580800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr4:100578000-100579800	Enhancers	Hela-S3	cervix
12	chr4:100578000-100580400	Enhancers	Fetal Heart	heart
13	chr4:100578200-100579600	Enhancers	NHEK	skin
14	chr4:100578400-100579600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:100578400-100579800	Enhancers	HMEC	breast
16	chr4:100578600-100579400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:100578600-100579600	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:100578800-100579200	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:100578800-100579200	Weak transcription	Ovary	ovary

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