Variant report

Variant	rs699689
Chromosome Location	chr1:76185602-76185603
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr1:76185436-76185845	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr1:76185510-76185925	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr1:76185504-76185881	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr1:76185480-76185827	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr1:76185408-76186065	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr1:76185528-76186004	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUN	chr1:76185499-76185920	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr1:76185456-76185885	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr1:76185402-76186011	H1-hESC	embryonic stem cell:	n/a	n/a
10	EBF1	chr1:76185495-76185735	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:76171538..76176296-chr1:76182594..76187669,7	K562	blood:
2	chr1:76183392..76187625-chr1:76187644..76191545,4	MCF-7	breast:
3	chr1:76184645..76186917-chr1:76251532..76253531,2	K562	blood:
4	chr1:76182869..76185714-chr1:76255250..76257463,2	K562	blood:
5	chr1:76178176..76179962-chr1:76184780..76186701,2	K562	blood:
6	chr1:76184568..76187287-chr1:76187578..76190885,3	MCF-7	breast:
7	chr1:76097324..76099781-chr1:76183811..76186655,2	K562	blood:

No data

Variant related genes	Relation type
ACADM	TF binding region
ENSG00000137955	Chromatin interaction
ENSG00000117054	Chromatin interaction
ENSG00000178193	Chromatin interaction
ENSG00000206620	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1021463	1.00[EUR][1000 genomes]
rs1068884	1.00[EUR][1000 genomes]
rs10747330	1.00[EUR][1000 genomes]
rs10873726	1.00[EUR][1000 genomes]
rs10873786	1.00[EUR][1000 genomes]
rs1093007	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1093010	1.00[EUR][1000 genomes]
rs11161785	1.00[EUR][1000 genomes]
rs11161801	1.00[EUR][1000 genomes]
rs1144330	1.00[EUR][1000 genomes]
rs1144332	1.00[EUR][1000 genomes]
rs1144335	1.00[EUR][1000 genomes]
rs1146575	1.00[EUR][1000 genomes]
rs1146576	1.00[EUR][1000 genomes]
rs1146578	1.00[EUR][1000 genomes]
rs1146585	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146586	1.00[EUR][1000 genomes]
rs1146589	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146595	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146596	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146597	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146599	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146600	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146601	1.00[EUR][1000 genomes]
rs1146604	1.00[EUR][1000 genomes]
rs1146621	1.00[EUR][1000 genomes]
rs1146633	1.00[EUR][1000 genomes]
rs1146640	1.00[EUR][1000 genomes]
rs1250879	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251066	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251074	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251076	0.84[AFR][1000 genomes]
rs1251271	1.00[EUR][1000 genomes]
rs1565718	1.00[EUR][1000 genomes]
rs1565719	1.00[EUR][1000 genomes]
rs1591119	1.00[EUR][1000 genomes]
rs1658743	1.00[EUR][1000 genomes]
rs1694408	1.00[EUR][1000 genomes]
rs1694423	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1770514	1.00[EUR][1000 genomes]
rs211714	1.00[EUR][1000 genomes]
rs211720	1.00[EUR][1000 genomes]
rs211734	1.00[EUR][1000 genomes]
rs211735	1.00[EUR][1000 genomes]
rs211738	1.00[EUR][1000 genomes]
rs211739	1.00[EUR][1000 genomes]
rs2347963	1.00[EUR][1000 genomes]
rs3119821	1.00[EUR][1000 genomes]
rs381183	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs392695	1.00[EUR][1000 genomes]
rs445008	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs696678	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs699684	1.00[EUR][1000 genomes]
rs699685	1.00[EUR][1000 genomes]
rs699686	1.00[EUR][1000 genomes]
rs699687	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699688	1.00[EUR][1000 genomes]
rs699823	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699826	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7541791	1.00[EUR][1000 genomes]
rs814846	1.00[EUR][1000 genomes]
rs814852	1.00[EUR][1000 genomes]
rs814854	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs815300	1.00[EUR][1000 genomes]
rs815302	1.00[EUR][1000 genomes]
rs815312	1.00[EUR][1000 genomes]
rs9437227	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv427675	chr1:76070382-76187748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv870520	chr1:76088392-76206490	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking 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 miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv871572	chr1:76161889-76208488	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats 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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76184200-76189000	Weak transcription	Esophagus	oesophagus
2	chr1:76184400-76186000	Weak transcription	HepG2	liver
3	chr1:76184600-76187200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:76185200-76186200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:76185200-76186200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:76185200-76186200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:76185400-76186200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:76185600-76186200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:76185600-76186600	Enhancers	Fetal Intestine Small	intestine
10	chr1:76185600-76187200	Enhancers	K562	blood
11	chr1:76185600-76187600	Enhancers	Fetal Intestine Large	intestine

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