Variant report

Variant	rs6110037
Chromosome Location	chr20:13766447-13766448
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	MBD4	chr20:13765140-13766502	HepG2	liver:	n/a	n/a
2	TBP	chr20:13765366-13766461	K562	blood:	n/a	n/a
3	MYC	chr20:13764994-13766864	K562	blood:	n/a	chr20:13765548-13765557
4	E2F6	chr20:13765107-13766456	K562	blood:	n/a	n/a
5	REST	chr20:13764932-13766478	H1-neurons	neurons:	n/a	chr20:13766143-13766163
6	POLR2A	chr20:13764615-13766484	MCF10A-Er-Src	breast:	n/a	n/a
7	MAX	chr20:13765054-13766560	ECC-1	luminal epithelium:	n/a	chr20:13765548-13765557
8	MAX	chr20:13765170-13766447	HepG2	liver:	n/a	chr20:13765548-13765557
9	POLR2A	chr20:13764943-13766640	MCF10A-Er-Src	breast:	n/a	n/a
10	MYBL2	chr20:13765104-13766484	HepG2	liver:	n/a	n/a
11	POLR2A	chr20:13765029-13766463	HepG2	liver:	n/a	n/a
12	MYC	chr20:13765075-13766448	NB4	blood:	n/a	chr20:13765548-13765557
13	MAX	chr20:13765022-13766490	HCT-116	colon:	n/a	chr20:13765548-13765557
14	MAX	chr20:13765035-13766561	A549	lung:	n/a	chr20:13765548-13765557
15	ARID3A	chr20:13766298-13766683	K562	blood:	n/a	n/a
16	MXI1	chr20:13764849-13766879	IMR90	lung:	n/a	n/a
17	MAX	chr20:13765309-13766457	K562	blood:	n/a	chr20:13765548-13765557
18	MAX	chr20:13764942-13766539	HepG2	liver:	n/a	chr20:13765548-13765557
19	MYBL2	chr20:13765043-13766482	HepG2	liver:	n/a	n/a
20	MYC	chr20:13765150-13766841	MCF10A-Er-Src	breast:	n/a	chr20:13765548-13765557
21	MAX	chr20:13765136-13766470	A549	lung:	n/a	chr20:13765548-13765557
22	MXI1	chr20:13764592-13767089	SK-N-SH	brain:	n/a	n/a
23	SREBP1	chr20:13764967-13766512	GM12878	blood:	n/a	chr20:13766019-13766029 chr20:13766017-13766028
24	CREB1	chr20:13764999-13766455	HepG2	liver:	n/a	n/a
25	MYC	chr20:13766044-13766489	MCF10A-Er-Src	breast:	n/a	n/a
26	MYC	chr20:13765048-13766485	K562	blood:	n/a	chr20:13765548-13765557
27	IRF1	chr20:13765368-13766459	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:13765557..13767175-chr20:13773327..13775374,2	MCF-7	breast:
2	chr20:13764475..13767391-chr20:13770944..13774600,4	K562	blood:
3	chr20:13764939..13767179-chr20:13781329..13782936,2	MCF-7	breast:
4	chr20:13618822..13620677-chr20:13764351..13767218,2	MCF-7	breast:
5	chr20:13764873..13767036-chr20:13778027..13780324,2	MCF-7	breast:

Variant related genes	Relation type
NDUFAF5	TF binding region
ESF1	TF binding region
ENSG00000101247	Chromatin interaction
ENSG00000089123	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10485767	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12625600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs28680787	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4813143	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4813145	0.87[AFR][1000 genomes]
rs4814253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs60914078	0.90[AFR][1000 genomes]
rs6105160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6105163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs6105169	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6110019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs6110023	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap]
rs6110048	0.91[AFR][1000 genomes]
rs6110050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6514441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7360405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs736365	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][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	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription 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	14 gene(s)	inside rSNPs	diseases
6	nsv531478	chr20:13580524-13814797	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1059221	chr20:13589432-13977327	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13763600-13766600	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr20:13763800-13767600	Active TSS	K562	blood
3	chr20:13764000-13766800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr20:13764000-13766800	Active TSS	HMEC	breast
5	chr20:13764000-13767000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr20:13764000-13767800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr20:13764200-13766800	Active TSS	HSMM	muscle
8	chr20:13764200-13767200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr20:13764200-13767200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr20:13764200-13767400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:13764400-13766600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr20:13764400-13766600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr20:13764400-13766600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr20:13764400-13766800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr20:13764400-13766800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr20:13764600-13766600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:13764600-13766600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr20:13764600-13766600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr20:13764600-13766600	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr20:13764600-13766600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr20:13764600-13766600	Active TSS	Brain Anterior Caudate	brain
22	chr20:13764600-13766600	Active TSS	Hela-S3	cervix
23	chr20:13764600-13766600	Active TSS	NHDF-Ad	bronchial
24	chr20:13764600-13766600	Active TSS	NHEK	skin
25	chr20:13764600-13766600	Active TSS	NHLF	lung
26	chr20:13764600-13766800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr20:13764600-13766800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr20:13764600-13766800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr20:13764600-13766800	Active TSS	Fetal Intestine Large	intestine
30	chr20:13764600-13766800	Active TSS	Right Ventricle	heart
31	chr20:13764600-13766800	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr20:13764600-13766800	Active TSS	A549	lung
33	chr20:13764600-13766800	Active TSS	HSMMtube	muscle
34	chr20:13764600-13767000	Active TSS	H1 Cell Line	embryonic stem cell
35	chr20:13764600-13767000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr20:13764600-13767200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr20:13764600-13767200	Active TSS	Fetal Intestine Small	intestine
38	chr20:13764600-13767200	Active TSS	Psoas Muscle	Psoas
39	chr20:13764600-13767200	Active TSS	GM12878-XiMat	blood
40	chr20:13764600-13767400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr20:13764600-13767600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr20:13764800-13766600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr20:13764800-13766600	Active TSS	Muscle Satellite Cultured Cells	--
44	chr20:13764800-13766600	Active TSS	Brain Cingulate Gyrus	brain
45	chr20:13764800-13766600	Active TSS	Fetal Brain Male	brain
46	chr20:13764800-13766600	Active TSS	Fetal Kidney	kidney
47	chr20:13764800-13766600	Active TSS	Fetal Lung	lung
48	chr20:13764800-13766600	Active TSS	Placenta Amnion	Placenta Amnion
49	chr20:13764800-13766600	Active TSS	Rectal Smooth Muscle	rectum
50	chr20:13764800-13766600	Active TSS	Dnd41	blood

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