Variant report

Variant	rs7014601
Chromosome Location	chr8:8283476-8283477
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	MYBL2	chr8:8282926-8283605	HepG2	liver:	n/a	n/a
2	EP300	chr8:8283032-8283530	HepG2	liver:	n/a	chr8:8283480-8283490
3	EP300	chr8:8282927-8283534	HepG2	liver:	n/a	chr8:8283480-8283490
4	NFIC	chr8:8282988-8283508	HepG2	liver:	n/a	n/a
5	RAD21	chr8:8283084-8283523	HepG2	liver:	n/a	n/a
6	FOXA1	chr8:8282986-8283620	HepG2	liver:	n/a	n/a
7	NR2F2	chr8:8282990-8283618	HepG2	liver:	n/a	n/a
8	TEAD4	chr8:8282936-8283746	HepG2	liver:	n/a	chr8:8283587-8283596
9	FOXA1	chr8:8282983-8283718	HepG2	liver:	n/a	n/a
10	FOXA1	chr8:8283122-8283565	HepG2	liver:	n/a	n/a
11	FOXA2	chr8:8283006-8283641	HepG2	liver:	n/a	n/a
12	FOXA1	chr8:8282977-8283554	HepG2	liver:	n/a	n/a
13	MYBL2	chr8:8282981-8283690	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8276737..8279265-chr8:8282228..8283969,2	K562	blood:

Variant related genes	Relation type
ENSG00000253505	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10099571	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101904	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10503376	1.00[ASN][1000 genomes]
rs11989467	1.00[ASN][1000 genomes]
rs11991607	1.00[ASN][1000 genomes]
rs13248908	1.00[CHB][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13251924	1.00[ASN][1000 genomes]
rs13253870	1.00[ASN][1000 genomes]
rs13259482	1.00[ASN][1000 genomes]
rs13262476	1.00[ASN][1000 genomes]
rs13280653	1.00[CHB][hapmap]
rs17594093	1.00[CHB][hapmap]
rs17604776	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17607697	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17617027	1.00[ASN][1000 genomes]
rs17669632	1.00[ASN][1000 genomes]
rs17670522	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2976956	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2976958	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34353415	1.00[ASN][1000 genomes]
rs34419947	1.00[ASN][1000 genomes]
rs35144760	1.00[ASN][1000 genomes]
rs35190619	1.00[ASN][1000 genomes]
rs4840966	1.00[ASN][1000 genomes]
rs4840969	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4840970	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4840971	1.00[ASN][1000 genomes]
rs4840975	1.00[ASN][1000 genomes]
rs55817265	1.00[ASN][1000 genomes]
rs60027965	1.00[ASN][1000 genomes]
rs6601693	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs66469655	1.00[ASN][1000 genomes]
rs6991227	1.00[ASN][1000 genomes]
rs6998115	1.00[ASN][1000 genomes]
rs7007943	1.00[ASN][1000 genomes]
rs71513198	1.00[ASN][1000 genomes]
rs73184334	1.00[ASN][1000 genomes]
rs73523411	1.00[ASN][1000 genomes]
rs882687	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv465448	chr8:8098079-8403142	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv610152	chr8:8098079-8403142	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv610153	chr8:8098079-8454531	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv610154	chr8:8101641-8328101	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1029268	chr8:8130629-8403435	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv539446	chr8:8130629-8403435	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv831227	chr8:8204838-8367160	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
13	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
14	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv465449	chr8:8262897-8362710	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv610158	chr8:8262897-8362710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv6071	chr8:8269444-8304320	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv1022784	chr8:8271462-8309864	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv539453	chr8:8271462-8309864	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv465451	chr8:8273043-8311298	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv610159	chr8:8273043-8311298	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7014601	DKFZp761P0423	cis	multi-tissue	Pritchard

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8270000-8284200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:8273200-8289400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:8275400-8286000	Weak transcription	Gastric	stomach
4	chr8:8277200-8286600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:8277600-8285400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:8278600-8284000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:8278600-8284200	Weak transcription	Fetal Kidney	kidney
8	chr8:8281200-8283800	Enhancers	A549	lung
9	chr8:8281400-8285000	Enhancers	HepG2	liver
10	chr8:8281600-8284600	Weak transcription	Stomach Mucosa	stomach
11	chr8:8281600-8284800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:8281800-8284800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:8281800-8285600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:8282000-8284600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:8282200-8283800	Weak transcription	Fetal Intestine Large	intestine
16	chr8:8282200-8284400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:8282400-8284800	Weak transcription	Fetal Intestine Small	intestine
18	chr8:8282800-8285000	Weak transcription	Brain Germinal Matrix	brain
19	chr8:8283200-8283600	Enhancers	Fetal Lung	lung
20	chr8:8283200-8283800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:8283200-8284000	Enhancers	Fetal Muscle Leg	muscle
22	chr8:8283200-8284200	Enhancers	HSMMtube	muscle
23	chr8:8283400-8283600	Enhancers	HSMM	muscle
24	chr8:8283400-8283800	Enhancers	HUES48 Cell Line	embryonic stem cell

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