Variant report

Variant	rs9497651
Chromosome Location	chr6:147178335-147178336
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	SMC3	chr6:147178292-147179709	SK-N-SH	brain:	n/a	chr6:147178757-147178771 chr6:147178761-147178771
2	CTCF	chr6:147178240-147178390	GM12871	blood:	n/a	n/a
3	MAFF	chr6:147178259-147179438	K562	blood:	n/a	chr6:147178841-147178859
4	MYC	chr6:147178296-147179447	K562	blood:	n/a	n/a
5	JUN	chr6:147175193-147179604	K562	blood:	n/a	chr6:147178979-147178991 chr6:147176865-147176875 chr6:147176865-147176875 chr6:147178350-147178364 chr6:147177670-147177681
6	POLR2A	chr6:147178192-147179291	K562	blood:	n/a	n/a
7	POLR2A	chr6:147178251-147179562	K562	blood:	n/a	n/a
8	TEAD4	chr6:147178237-147179447	K562	blood:	n/a	chr6:147178425-147178434
9	NR2F2	chr6:147178201-147179401	K562	blood:	n/a	n/a
10	POLR2A	chr6:147178243-147179618	K562	blood:	n/a	n/a
11	RCOR1	chr6:147178287-147179440	K562	blood:	n/a	n/a
12	CREB1	chr6:147178306-147179421	K562	blood:	n/a	n/a
13	RAD21	chr6:147178188-147179761	SK-N-SH	brain:	n/a	chr6:147179005-147179018 chr6:147178756-147178775 chr6:147178761-147178773 chr6:147178723-147178735 chr6:147178759-147178772 chr6:147178761-147178771
14	MYC	chr6:147178301-147179513	K562	blood:	n/a	n/a
15	POLR2A	chr6:147178328-147179467	K562	blood:	n/a	n/a
16	CTCF	chr6:147178260-147178410	NHLF	lung:	n/a	n/a
17	POLR2A	chr6:147178112-147179727	K562	blood:	n/a	n/a
18	BHLHE40	chr6:147178311-147179297	K562	blood:	n/a	n/a
19	POLR2A	chr6:147176013-147179639	K562	blood:	n/a	n/a
20	POLR2A	chr6:147175961-147179623	K562	blood:	n/a	n/a
21	TEAD4	chr6:147178191-147179614	K562	blood:	n/a	chr6:147178425-147178434
22	POLR2A	chr6:147178159-147179489	K562	blood:	n/a	n/a
23	CTCF	chr6:147178323-147179416	SK-N-SH	brain:	n/a	chr6:147178755-147178773 chr6:147178757-147178778 chr6:147178760-147178770 chr6:147178758-147178771 chr6:147178501-147178509 chr6:147178758-147178767 chr6:147178758-147178771 chr6:147178756-147178772
24	POLR2A	chr6:147178220-147179611	K562	blood:	n/a	n/a
25	TBL1XR1	chr6:147178328-147179560	K562	blood:	n/a	n/a
26	CTCF	chr6:147178265-147179226	K562	blood:	n/a	chr6:147178755-147178773 chr6:147178757-147178778 chr6:147178760-147178770 chr6:147178758-147178771 chr6:147178501-147178509 chr6:147178758-147178767 chr6:147178758-147178771 chr6:147178756-147178772
27	POLR2A	chr6:147178226-147178634	K562	blood:	n/a	n/a
28	CEBPD	chr6:147178227-147179479	K562	blood:	n/a	chr6:147178809-147178818
29	TAF1	chr6:147178279-147179344	K562	blood:	n/a	n/a
30	POLR2A	chr6:147178322-147179502	K562	blood:	n/a	n/a
31	PML	chr6:147178060-147179734	K562	blood:	n/a	chr6:147179370-147179378
32	RCOR1	chr6:147178329-147179487	K562	blood:	n/a	n/a
33	CTCF	chr6:147178260-147178410	GM12865	blood:	n/a	n/a
34	IRF1	chr6:147178276-147179518	K562	blood:	n/a	chr6:147178410-147178424 chr6:147179483-147179500 chr6:147179479-147179499 chr6:147179483-147179497 chr6:147179475-147179486 chr6:147179487-147179497 chr6:147179481-147179495 chr6:147179473-147179487

No.	Distal block	Cell Line	Cell type
1	chr6:147176826..147178897-chr6:147521577..147523241,2	K562	blood:
2	chr6:147177011..147178784-chr6:147528174..147531299,3	K562	blood:
3	chr6:147176495..147178346-chr6:147523944..147526516,2	MCF-7	breast:
4	chr6:147177851..147181465-chr6:147522179..147525344,4	K562	blood:

Variant related genes	Relation type
ENSG00000227748	TF binding region
ENSG00000164506	Chromatin interaction
ENSG00000233452	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10457058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10872590	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967903	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190795	0.93[CEU][hapmap];0.82[CHB][hapmap];0.91[GIH][hapmap];0.86[TSI][hapmap]
rs12191031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191074	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192109	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192840	0.93[CEU][hapmap]
rs12193933	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194244	0.93[CEU][hapmap]
rs12196674	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203958	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12205535	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206264	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12206612	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208399	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208632	0.93[CEU][hapmap];0.82[CHB][hapmap]
rs12210790	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12211372	0.93[CEU][hapmap];0.82[CHB][hapmap]
rs12211458	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12213086	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215283	0.92[CEU][hapmap]
rs12216213	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259368	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259383	0.81[ASN][1000 genomes]
rs259387	1.00[CHB][hapmap];0.87[TSI][hapmap]
rs35064671	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3736886	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41285877	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs508146	1.00[CEU][hapmap];0.85[CHB][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58441910	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434408	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434410	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434412	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434418	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434419	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434421	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434422	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434423	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434425	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434426	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434427	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909070	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922552	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6929822	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73578231	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747334	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7770567	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878616	0.92[CEU][hapmap]
rs878617	0.93[CEU][hapmap]
rs9497652	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9497653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9497654	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147163200-147178800	Weak transcription	Right Atrium	heart
2	chr6:147163400-147178800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:147172000-147178400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:147172200-147178800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:147172800-147178800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:147173600-147178800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:147173800-147178600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:147173800-147178600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:147173800-147178600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:147173800-147178800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:147175200-147178800	Weak transcription	Gastric	stomach
12	chr6:147175600-147178800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:147177000-147178800	Weak transcription	NHDF-Ad	bronchial
14	chr6:147177600-147178400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:147178200-147178400	Transcr. at gene 5' and 3'	K562	blood

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