Variant report

Variant	rs6830685
Chromosome Location	chr4:100143184-100143185
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	CTCF	chr4:100143060-100143210	HepG2	liver:	n/a	n/a
2	CEBPB	chr4:100143126-100143378	HepG2	liver:	n/a	n/a
3	CEBPB	chr4:100143084-100143441	H1-hESC	embryonic stem cell:	n/a	n/a
4	TEAD4	chr4:100143162-100143422	H1-hESC	embryonic stem cell:	n/a	n/a
5	HDAC2	chr4:100143065-100143322	HepG2	liver:	n/a	chr4:100143296-100143310 chr4:100143301-100143315
6	FOXA2	chr4:100143089-100143381	HepG2	liver:	n/a	n/a
7	EP300	chr4:100142999-100143448	HepG2	liver:	n/a	n/a
8	CEBPB	chr4:100143096-100143423	HepG2	liver:	n/a	n/a
9	CEBPB	chr4:100143083-100143436	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ADH6	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10002894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229967	1.00[ASN][1000 genomes]
rs1229969	1.00[ASN][1000 genomes]
rs1229970	1.00[ASN][1000 genomes]
rs1229976	1.00[ASN][1000 genomes]
rs1229977	1.00[ASN][1000 genomes]
rs1229982	1.00[CHB][hapmap]
rs1230019	1.00[ASN][1000 genomes]
rs1230020	1.00[ASN][1000 genomes]
rs1230022	1.00[ASN][1000 genomes]
rs1230023	0.91[ASN][1000 genomes]
rs1230025	1.00[ASN][1000 genomes]
rs1230026	1.00[ASN][1000 genomes]
rs1230027	1.00[ASN][1000 genomes]
rs1230028	1.00[ASN][1000 genomes]
rs1497375	1.00[ASN][1000 genomes]
rs1587264	0.85[ASN][1000 genomes]
rs1618572	1.00[ASN][1000 genomes]
rs1693457	1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1693458	0.85[ASN][1000 genomes]
rs1789882	0.85[ASN][1000 genomes]
rs2173200	1.00[ASN][1000 genomes]
rs2187483	0.80[YRI][hapmap]
rs2646009	1.00[ASN][1000 genomes]
rs2646011	1.00[ASN][1000 genomes]
rs2851291	1.00[ASN][1000 genomes]
rs2866149	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133155	0.85[ASN][1000 genomes]
rs4147536	1.00[CHB][hapmap];0.81[CHD][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs4355398	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699733	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4699737	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62305755	1.00[ASN][1000 genomes]
rs6532810	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532811	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532813	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833176	0.80[YRI][hapmap]
rs7656223	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669784	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7673231	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904092	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs931635	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv3355763	chr4:100070566-100376814	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1014237	chr4:100102701-100365700	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1010988	chr4:100105463-100444445	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1000659	chr4:100117276-100444445	Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv999549	chr4:100121609-100351749	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100129000-100143200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:100140600-100143600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:100141000-100143200	Weak transcription	Stomach Mucosa	stomach
4	chr4:100141200-100144000	Enhancers	HepG2	liver
5	chr4:100141600-100143400	Weak transcription	Liver	Liver
6	chr4:100142600-100143200	Enhancers	Small Intestine	intestine
7	chr4:100142600-100143800	Enhancers	Duodenum Mucosa	Duodenum
8	chr4:100142800-100143400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr4:100142800-100143800	Enhancers	Fetal Intestine Large	intestine
10	chr4:100142800-100144000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:100142800-100144000	Enhancers	Fetal Intestine Small	intestine
12	chr4:100142800-100144200	Enhancers	Fetal Lung	lung
13	chr4:100143000-100143400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:100143000-100143800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:100143000-100143800	Enhancers	Fetal Kidney	kidney
16	chr4:100143000-100143800	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr4:100143000-100144000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:100143000-100144000	Enhancers	Adipose Nuclei	Adipose
19	chr4:100143000-100144200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:100143000-100144200	Enhancers	HUES64 Cell Line	embryonic stem cell

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