Variant report

Variant	rs6812110
Chromosome Location	chr4:102898874-102898875
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	MYC	chr4:102898115-102898881	A549	lung:	n/a	n/a
2	TCF12	chr4:102898038-102898913	A549	lung:	n/a	n/a
3	FOSL2	chr4:102898001-102899075	SK-N-SH	brain:	n/a	chr4:102899021-102899029 chr4:102898907-102898917 chr4:102898907-102898917 chr4:102898908-102898917 chr4:102898907-102898917 chr4:102898907-102898917
4	TCF12	chr4:102897888-102899039	SK-N-SH	brain:	n/a	n/a
5	CEBPB	chr4:102898018-102898966	Hela-S3	cervix:	n/a	n/a
6	STAT3	chr4:102898231-102898967	MCF10A-Er-Src	breast:	n/a	chr4:102898763-102898770 chr4:102898908-102898917
7	EP300	chr4:102898072-102898925	A549	lung:	n/a	chr4:102898907-102898916
8	EP300	chr4:102897997-102898903	A549	lung:	n/a	n/a
9	SP1	chr4:102898104-102898892	A549	lung:	n/a	chr4:102898697-102898718
10	MYC	chr4:102898127-102898893	MCF10A-Er-Src	breast:	n/a	n/a
11	JUND	chr4:102898067-102899091	SK-N-SH	brain:	n/a	chr4:102899021-102899029 chr4:102898907-102898917 chr4:102898907-102898917 chr4:102898908-102898917 chr4:102898907-102898917 chr4:102898907-102898917
12	CEBPB	chr4:102898001-102898881	A549	lung:	n/a	n/a
13	FOSL2	chr4:102897981-102898942	A549	lung:	n/a	chr4:102898907-102898917 chr4:102898907-102898917 chr4:102898908-102898917 chr4:102898907-102898917 chr4:102898907-102898917
14	NFIC	chr4:102897936-102899181	SK-N-SH	brain:	n/a	n/a
15	FOS	chr4:102898089-102899044	MCF10A-Er-Src	breast:	n/a	chr4:102899021-102899029 chr4:102898433-102898444 chr4:102898907-102898917 chr4:102898907-102898917 chr4:102898908-102898917 chr4:102898907-102898917 chr4:102898907-102898917
16	GATA3	chr4:102897658-102899204	SK-N-SH	brain:	n/a	chr4:102898888-102898901
17	FOS	chr4:102898146-102899092	HUVEC	blood vessel:	n/a	chr4:102899021-102899029 chr4:102898433-102898444 chr4:102898907-102898917 chr4:102898907-102898917 chr4:102898908-102898917 chr4:102898907-102898917 chr4:102898907-102898917
18	STAT3	chr4:102898181-102898995	MCF10A-Er-Src	breast:	n/a	chr4:102898763-102898770 chr4:102898908-102898917
19	FOS	chr4:102898143-102899027	MCF10A-Er-Src	breast:	n/a	chr4:102898433-102898444 chr4:102898907-102898917 chr4:102898907-102898917 chr4:102898908-102898917 chr4:102898907-102898917 chr4:102898907-102898917
20	NFIC	chr4:102898127-102898910	ECC-1	luminal epithelium:	n/a	n/a
21	GATA3	chr4:102897903-102899077	A549	lung:	n/a	chr4:102898888-102898901
22	BCL3	chr4:102898061-102898877	A549	lung:	n/a	n/a
23	JUND	chr4:102898124-102898958	Hela-S3	cervix:	n/a	chr4:102898907-102898917 chr4:102898907-102898917 chr4:102898908-102898917 chr4:102898907-102898917 chr4:102898907-102898917

Variant related genes	Relation type
BANK1	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10050084	0.83[AFR][1000 genomes]
rs10212684	0.90[ASN][1000 genomes]
rs10212686	0.90[ASN][1000 genomes]
rs10516482	0.84[ASN][1000 genomes]
rs11097756	0.82[ASN][1000 genomes]
rs11734196	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11737723	0.90[ASN][1000 genomes]
rs12331846	0.90[ASN][1000 genomes]
rs12641899	0.90[ASN][1000 genomes]
rs12647710	0.84[ASN][1000 genomes]
rs12647741	0.90[ASN][1000 genomes]
rs12647829	0.90[ASN][1000 genomes]
rs13113677	0.83[AFR][1000 genomes]
rs17031724	0.86[ASN][1000 genomes]
rs1809578	0.89[AFR][1000 genomes]
rs1862128	0.84[ASN][1000 genomes]
rs2112139	0.83[AFR][1000 genomes]
rs2544569	1.00[ASN][1000 genomes]
rs2631242	0.91[AFR][1000 genomes]
rs2631251	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2631252	0.81[AFR][1000 genomes]
rs2631253	0.81[AFR][1000 genomes]
rs2631274	0.89[AFR][1000 genomes]
rs2850374	0.93[ASW][hapmap];0.91[LWK][hapmap];0.87[MKK][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes]
rs2851314	0.86[ASN][1000 genomes]
rs2851315	0.90[ASN][1000 genomes]
rs2851317	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2851325	0.83[AFR][1000 genomes]
rs2851327	0.84[AFR][1000 genomes]
rs2851330	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851331	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851335	0.81[AFR][1000 genomes]
rs4317207	0.86[ASN][1000 genomes]
rs4544711	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4624656	0.88[ASN][1000 genomes]
rs6532981	0.81[ASN][1000 genomes]
rs6812874	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6849308	0.84[ASN][1000 genomes]
rs727086	0.84[AFR][1000 genomes]
rs7663733	0.90[ASN][1000 genomes]
rs7666312	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs918363	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869164	chr4:102483189-103213842	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv999861	chr4:102576115-102930562	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2757945	chr4:102662699-103008940	Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759269	chr4:102662699-103008940	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1011180	chr4:102685236-102985945	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv537202	chr4:102685236-102985945	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2757074	chr4:102772861-102933949	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv879682	chr4:102859835-103088491	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr4:102894000-102905200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:102894200-102900600	Strong transcription	Primary B cells from peripheral blood	blood
3	chr4:102896600-102899200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:102896600-102899800	Enhancers	Hela-S3	cervix
5	chr4:102897200-102899200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:102897600-102899000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:102897600-102899200	Enhancers	HUVEC	blood vessel
8	chr4:102897800-102899000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:102897800-102899000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:102897800-102899000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:102897800-102899000	Enhancers	NH-A	brain
12	chr4:102897800-102899000	Enhancers	NHEK	skin
13	chr4:102897800-102899000	Enhancers	Osteobl	bone
14	chr4:102898600-102899800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:102898800-102899200	Enhancers	A549	lung
16	chr4:102898800-102902600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:102898800-102902600	Weak transcription	HMEC	breast
18	chr4:102898800-102902800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:102898800-102905000	Weak transcription	Primary B cells from cord blood	blood

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