Variant report

Variant	rs6493885
Chromosome Location	chr15:57026495-57026496
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	E2F6	chr15:57024807-57026861	H1-hESC	embryonic stem cell:	n/a	chr15:57025488-57025498 chr15:57025541-57025550 chr15:57025808-57025818 chr15:57025866-57025881
2	ZNF143	chr15:57026415-57026698	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr15:57024000-57026500	A549	lung:	n/a	chr15:57025943-57025952
4	GTF2F1	chr15:57024991-57026680	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr15:57024968-57026543	A549	lung:	n/a	chr15:57025488-57025498 chr15:57025541-57025550 chr15:57025808-57025818 chr15:57025866-57025881
6	TFAP2C	chr15:57026428-57026934	Hela-S3	cervix:	n/a	chr15:57026646-57026661
7	POLR2A	chr15:57026485-57026685	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr15:57026463-57026613	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr15:57024730-57026664	MCF10A-Er-Src	breast:	n/a	n/a
10	KAP1	chr15:57025728-57027111	HEK293	kidney:	n/a	n/a
11	SETDB1	chr15:57025688-57027009	U2OS	brain:	n/a	n/a
12	KAP1	chr15:57025863-57026730	K562	blood:	n/a	n/a
13	JUN	chr15:57023652-57026813	K562	blood:	n/a	chr15:57025885-57025894 chr15:57026028-57026042
14	TCF12	chr15:57024702-57026727	A549	lung:	n/a	n/a
15	MYC	chr15:57026402-57026565	MCF10A-Er-Src	breast:	n/a	n/a
16	TFAP2A	chr15:57026444-57026852	Hela-S3	cervix:	n/a	chr15:57026646-57026661
17	TBL1XR1	chr15:57025248-57026603	K562	blood:	n/a	n/a
18	MAX	chr15:57024582-57026582	A549	lung:	n/a	chr15:57025943-57025952

No.	Distal block	Cell Line	Cell type
1	chr15:57023111..57027218-chr15:57209095..57213054,4	K562	blood:
2	chr15:56534684..56537162-chr15:57025486..57027553,2	MCF-7	breast:
3	chr15:57022824..57027100-chr15:57611258..57614634,3	K562	blood:
4	chr15:56997588..56999927-chr15:57024317..57027282,2	K562	blood:
5	chr15:57023339..57026885-chr15:57210242..57212303,3	MCF-7	breast:

Variant related genes	Relation type
ZNF280D	TF binding region
ENSG00000137871	Chromatin interaction
ENSG00000181827	Chromatin interaction
ENSG00000260172	Chromatin interaction
ENSG00000151575	Chromatin interaction
ENSG00000140262	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1010700	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10518870	0.80[EUR][1000 genomes]
rs11071287	0.84[EUR][1000 genomes]
rs11071293	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11632471	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11633363	0.84[EUR][1000 genomes]
rs11635333	0.84[EUR][1000 genomes]
rs11638497	0.94[EUR][1000 genomes]
rs11638580	0.94[EUR][1000 genomes]
rs11638707	0.84[EUR][1000 genomes]
rs12438709	0.85[EUR][1000 genomes]
rs12442018	0.83[EUR][1000 genomes]
rs12593286	0.86[EUR][1000 genomes]
rs12595822	0.95[EUR][1000 genomes]
rs12898521	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12898760	0.84[EUR][1000 genomes]
rs12900045	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12900244	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12900441	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12905514	0.94[EUR][1000 genomes]
rs12906591	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12906749	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12906830	0.83[EUR][1000 genomes]
rs12908806	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12910403	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12910442	0.81[EUR][1000 genomes]
rs12911191	0.81[EUR][1000 genomes]
rs12912666	0.84[EUR][1000 genomes]
rs12913361	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12913871	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12913960	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12915816	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1424694	0.94[EUR][1000 genomes]
rs1477475	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1812395	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1895640	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2052640	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2161934	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2279298	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2414480	0.85[EUR][1000 genomes]
rs28575268	0.93[ASN][1000 genomes]
rs28620278	0.81[EUR][1000 genomes]
rs4601984	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4774244	0.85[EUR][1000 genomes]
rs4774886	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4774892	0.85[AMR][1000 genomes]
rs521904	0.93[EUR][1000 genomes]
rs538382	0.90[EUR][1000 genomes]
rs553421	0.94[EUR][1000 genomes]
rs559736	0.82[EUR][1000 genomes]
rs57387969	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62022931	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62022933	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62022934	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62022954	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7162317	0.96[EUR][1000 genomes]
rs7165831	0.83[EUR][1000 genomes]
rs7168178	0.87[EUR][1000 genomes]
rs7169454	0.87[EUR][1000 genomes]
rs795032	0.91[EUR][1000 genomes]
rs8025391	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8036217	0.85[EUR][1000 genomes]
rs8041540	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv569576	chr15:57012816-57126917	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3449418	chr15:57024810-57026908	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57024800-57026800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
2	chr15:57026000-57026600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:57026000-57026800	ZNF genes & repeats	Fetal Thymus	thymus
4	chr15:57026000-57027200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr15:57026000-57028600	Weak transcription	HUVEC	blood vessel
6	chr15:57026000-57029400	Weak transcription	NH-A	brain
7	chr15:57026200-57026600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:57026200-57026600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr15:57026200-57026800	Enhancers	Adipose Nuclei	Adipose
10	chr15:57026200-57028200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:57026200-57028400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr15:57026200-57028600	Weak transcription	Colon Smooth Muscle	Colon
13	chr15:57026200-57029000	Weak transcription	Small Intestine	intestine
14	chr15:57026200-57029200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:57026200-57029200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:57026200-57029200	Weak transcription	Ovary	ovary
17	chr15:57026200-57029600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:57026200-57032400	Weak transcription	Pancreas	Pancrea
19	chr15:57026400-57026600	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr15:57026400-57026600	Enhancers	Dnd41	blood
21	chr15:57026400-57026800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:57026400-57026800	Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr15:57026400-57027000	Enhancers	Placenta	Placenta
24	chr15:57026400-57027000	Enhancers	Hela-S3	cervix
25	chr15:57026400-57027200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:57026400-57027600	Weak transcription	HepG2	liver
27	chr15:57026400-57027800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:57026400-57027800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr15:57026400-57028200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:57026400-57029000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr15:57026400-57029200	Enhancers	K562	blood
32	chr15:57026400-57029400	Weak transcription	Fetal Kidney	kidney

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