Variant report

Variant	rs767634
Chromosome Location	chr5:60344297-60344298
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	TEAD4	chr5:60344297-60344896	HCT-116	colon:	n/a	n/a
2	SP1	chr5:60344203-60344970	HCT-116	colon:	n/a	n/a
3	E2F4	chr5:60344080-60344584	MCF10A-Er-Src	breast:	n/a	n/a
4	CBX3	chr5:60344262-60344845	HCT-116	colon:	n/a	n/a
5	NFIC	chr5:60344201-60344867	SK-N-SH	brain:	n/a	n/a
6	MAX	chr5:60344201-60344968	HCT-116	colon:	n/a	n/a
7	STAT3	chr5:60344070-60344736	MCF10A-Er-Src	breast:	n/a	n/a
8	CBX3	chr5:60344265-60344917	HCT-116	colon:	n/a	n/a
9	FOSL1	chr5:60344220-60344998	HCT-116	colon:	n/a	n/a
10	JUND	chr5:60344295-60344933	SK-N-SH	brain:	n/a	n/a
11	TCF12	chr5:60344283-60344844	SK-N-SH	brain:	n/a	chr5:60344454-60344461
12	CEBPB	chr5:60344184-60345032	HCT-116	colon:	n/a	chr5:60344922-60344933
13	SIN3AK20	chr5:60344263-60344844	HCT-116	colon:	n/a	n/a
14	FOS	chr5:60344225-60344837	MCF10A-Er-Src	breast:	n/a	chr5:60344599-60344610
15	FOS	chr5:60344279-60344786	MCF10A-Er-Src	breast:	n/a	chr5:60344599-60344610
16	RAD21	chr5:60344184-60344983	HCT-116	colon:	n/a	n/a
17	STAT3	chr5:60344187-60344769	MCF10A-Er-Src	breast:	n/a	n/a
18	TCF12	chr5:60344263-60344965	SK-N-SH	brain:	n/a	chr5:60344454-60344461
19	JUND	chr5:60344175-60344899	HCT-116	colon:	n/a	n/a
20	STAT3	chr5:60344171-60344730	MCF10A-Er-Src	breast:	n/a	n/a
21	SRF	chr5:60344233-60344924	HCT-116	colon:	n/a	chr5:60344273-60344284
22	FOS	chr5:60344222-60344791	MCF10A-Er-Src	breast:	n/a	chr5:60344599-60344610
23	GATA3	chr5:60344251-60344895	SK-N-SH	brain:	n/a	n/a
24	JUND	chr5:60344189-60344876	HCT-116	colon:	n/a	n/a
25	FOS	chr5:60344173-60344855	MCF10A-Er-Src	breast:	n/a	chr5:60344599-60344610
26	FOSL1	chr5:60344232-60344944	HCT-116	colon:	n/a	n/a
27	SP1	chr5:60344148-60345020	HCT-116	colon:	n/a	n/a
28	SRF	chr5:60344252-60344904	HCT-116	colon:	n/a	chr5:60344273-60344284

Variant related genes	Relation type
NDUFAF2	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10052753	0.82[EUR][1000 genomes]
rs10054247	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10055076	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10075959	0.82[EUR][1000 genomes]
rs10076568	1.00[CEU][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs11741431	0.82[EUR][1000 genomes]
rs11744226	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13163684	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13179721	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13185516	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13186053	0.84[EUR][1000 genomes]
rs13190305	0.83[EUR][1000 genomes]
rs295565	0.85[ASN][1000 genomes]
rs329618	0.93[ASN][1000 genomes]
rs34598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs34640	0.98[ASN][1000 genomes]
rs35383830	0.85[ASN][1000 genomes]
rs6449509	1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs9291707	1.00[CEU][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv881715	chr5:60116613-60356423	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv881717	chr5:60141245-60372582	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv881721	chr5:60232646-60344399	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv598313	chr5:60247815-60374912	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv881722	chr5:60266875-60384171	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1019307	chr5:60295350-60409077	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr5:60323000-60347000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:60324600-60354000	Weak transcription	Primary T cells from cord blood	blood
3	chr5:60326000-60400800	Weak transcription	Left Ventricle	heart
4	chr5:60339800-60348200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:60342800-60346000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:60342800-60346200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:60343200-60344800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:60343200-60344800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:60343200-60344800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:60343200-60345000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:60343400-60345000	Enhancers	NHEK	skin
12	chr5:60343400-60347000	Weak transcription	GM12878-XiMat	blood
13	chr5:60343600-60344800	Enhancers	Hela-S3	cervix
14	chr5:60343600-60345000	Enhancers	HMEC	breast
15	chr5:60343600-60345200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:60343600-60345800	Weak transcription	Fetal Intestine Small	intestine
17	chr5:60343800-60344800	Enhancers	NHDF-Ad	bronchial
18	chr5:60343800-60345200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:60344000-60344800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:60344000-60344800	Enhancers	HUVEC	blood vessel
21	chr5:60344000-60344800	Enhancers	NHLF	lung
22	chr5:60344000-60344800	Enhancers	Osteobl	bone
23	chr5:60344000-60345000	Enhancers	NH-A	brain
24	chr5:60344200-60344600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:60344200-60344800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:60344200-60344800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:60344200-60344800	Enhancers	A549	lung
28	chr5:60344200-60344800	Enhancers	HSMM	muscle

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