Variant report

Variant	rs35626280
Chromosome Location	chr6:80659371-80659372
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	CTCF	chr6:80658668-80659376	A549	lung:	n/a	chr6:80659035-80659053 chr6:80659037-80659058
2	RAD21	chr6:80658633-80659500	SK-N-SH	brain:	n/a	chr6:80659036-80659055
3	CTCF	chr6:80658721-80659403	HCT-116	colon:	n/a	chr6:80659035-80659053 chr6:80659037-80659058
4	RAD21	chr6:80658715-80659427	HCT-116	colon:	n/a	chr6:80659036-80659055
5	GATA3	chr6:80658742-80659401	SK-N-SH	brain:	n/a	n/a
6	RAD21	chr6:80658741-80659401	HCT-116	colon:	n/a	chr6:80659036-80659055
7	RAD21	chr6:80658833-80659463	MCF-7	breast:	n/a	chr6:80659036-80659055
8	SMC3	chr6:80658623-80659438	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr6:80658664-80659429	SK-N-SH	brain:	n/a	chr6:80659035-80659053 chr6:80659037-80659058

No.	Distal block	Cell Line	Cell type
1	chr6:80659127..80661422-chr6:80663652..80666036,2	K562	blood:
2	chr6:80658870..80659475-chr6:80804226..80804935,2	MCF-7	breast:
3	chr6:80657745..80660049-chr6:80716512..80719051,2	MCF-7	breast:
4	chr6:80658835..80659700-chr6:80713034..80713810,2	MCF-7	breast:
5	chr6:80658533..80659818-chr6:80802938..80804495,11	MCF-7	breast:
6	chr6:80658920..80659483-chr6:80801274..80801876,2	K562	blood:

Variant related genes	Relation type
ELOVL4	TF binding region
ENSG00000112742	Chromatin interaction
ENSG00000218582	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12663071	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12663092	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1355576	1.00[ASN][1000 genomes]
rs151586	0.99[ASN][1000 genomes]
rs151650	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs151674	0.99[ASN][1000 genomes]
rs1818439	1.00[ASN][1000 genomes]
rs2117446	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239506	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs239508	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs239545	1.00[ASN][1000 genomes]
rs239546	0.99[ASN][1000 genomes]
rs239547	0.92[ASN][1000 genomes]
rs239550	0.99[ASN][1000 genomes]
rs239551	0.99[ASN][1000 genomes]
rs4552689	0.85[ASN][1000 genomes]
rs4706821	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60373337	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6915142	1.00[ASN][1000 genomes]
rs6918121	1.00[ASN][1000 genomes]
rs6939120	1.00[ASN][1000 genomes]
rs9294167	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9343948	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9343950	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9343951	0.99[ASN][1000 genomes]
rs9343952	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9343956	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9350836	0.84[ASN][1000 genomes]
rs9352786	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9352787	0.91[ASN][1000 genomes]
rs9361576	0.84[ASN][1000 genomes]
rs9361578	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv3475140	chr6:80592690-80679283	Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3475142	chr6:80592789-80679132	Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv933704	chr6:80657182-80674202	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80655600-80659400	Active TSS	Thymus	Thymus
2	chr6:80657800-80659800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:80658000-80660600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:80658000-80664200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:80658800-80659400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:80658800-80659400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:80658800-80659800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:80659000-80659400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:80659000-80659400	Active TSS	Primary T cells from cord blood	blood
10	chr6:80659000-80659400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr6:80659000-80659400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:80659000-80659400	Flanking Active TSS	Liver	Liver
13	chr6:80659000-80659400	Flanking Active TSS	Fetal Thymus	thymus
14	chr6:80659000-80659400	Enhancers	Gastric	stomach
15	chr6:80659000-80659400	Enhancers	Stomach Mucosa	stomach
16	chr6:80659000-80659400	Flanking Active TSS	Dnd41	blood
17	chr6:80659000-80659400	Active TSS	GM12878-XiMat	blood
18	chr6:80659000-80659400	Active TSS	Hela-S3	cervix
19	chr6:80659200-80659400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr6:80659200-80659400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr6:80659200-80659400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:80659200-80659400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:80659200-80659400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr6:80659200-80659400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr6:80659200-80659400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:80659200-80659400	Enhancers	Aorta	Aorta
27	chr6:80659200-80659600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr6:80659200-80659800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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