Variant report

Variant	rs57965929
Chromosome Location	chr7:84161693-84161694
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	PRDM1	chr7:84161628-84161863	Hela-S3	cervix:	n/a	n/a
2	STAT3	chr7:84161585-84161822	Hela-S3	cervix:	n/a	chr7:84161724-84161738
3	CHD2	chr7:84161541-84161800	Hela-S3	cervix:	n/a	n/a
4	RAD21	chr7:84161657-84161899	Hela-S3	cervix:	n/a	chr7:84161690-84161699
5	EP300	chr7:84161610-84161870	Hela-S3	cervix:	n/a	n/a
6	GATA3	chr7:84161272-84162127	A549	lung:	n/a	n/a
7	CEBPB	chr7:84161478-84161912	Hela-S3	cervix:	n/a	n/a
8	EP300	chr7:84161406-84162050	A549	lung:	n/a	n/a
9	EP300	chr7:84161377-84161931	A549	lung:	n/a	n/a
10	SP1	chr7:84161460-84161906	A549	lung:	n/a	chr7:84161650-84161664 chr7:84161654-84161664 chr7:84161654-84161663
11	RFX5	chr7:84161628-84161909	Hela-S3	cervix:	n/a	n/a
12	RCOR1	chr7:84161579-84161847	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000235139	TF binding region
RPL7P30	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1029541	0.87[ASN][1000 genomes]
rs10435465	0.84[ASN][1000 genomes]
rs11978829	0.83[ASN][1000 genomes]
rs12056171	0.84[ASN][1000 genomes]
rs1228898	0.87[ASN][1000 genomes]
rs1228915	0.87[ASN][1000 genomes]
rs1228919	0.87[ASN][1000 genomes]
rs1228933	0.84[ASN][1000 genomes]
rs1228937	0.85[ASN][1000 genomes]
rs3094908	0.85[ASN][1000 genomes]
rs55649642	0.90[ASN][1000 genomes]
rs61538559	0.90[ASN][1000 genomes]
rs73710918	0.84[ASN][1000 genomes]
rs73710921	0.84[ASN][1000 genomes]
rs73710928	0.84[ASN][1000 genomes]
rs73710930	0.84[ASN][1000 genomes]
rs73710931	0.84[ASN][1000 genomes]
rs73712927	0.98[ASN][1000 genomes]
rs73712949	0.88[ASN][1000 genomes]
rs73712958	0.90[ASN][1000 genomes]
rs73712961	0.87[ASN][1000 genomes]
rs757747	0.84[ASN][1000 genomes]
rs9642180	0.81[ASN][1000 genomes]
rs9642182	0.98[ASN][1000 genomes]
rs9642183	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2754468	chr7:83851249-84166749	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv888634	chr7:84086502-84196258	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv888635	chr7:84086502-84344258	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv888636	chr7:84117594-84334498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv607710	chr7:84137622-84168615	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv888637	chr7:84137622-84213008	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv464620	chr7:84141077-84289915	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv607711	chr7:84141077-84289915	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1031149	chr7:84144990-84404356	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv888638	chr7:84158180-84334498	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv888639	chr7:84158180-84344258	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv5821	chr7:84159713-84204468	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr7:84157600-84162400	Enhancers	Fetal Intestine Small	intestine
2	chr7:84158400-84162600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:84159400-84165000	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:84160000-84165400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:84160600-84162200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:84160800-84165200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:84160800-84165200	Weak transcription	Hela-S3	cervix
8	chr7:84161000-84162800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:84161000-84163000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:84161000-84163200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:84161200-84161800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:84161200-84161800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:84161200-84162000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:84161200-84162000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:84161200-84162200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:84161200-84162800	Enhancers	NHDF-Ad	bronchial
17	chr7:84161400-84161800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:84161400-84161800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:84161400-84161800	Enhancers	Fetal Intestine Large	intestine
20	chr7:84161400-84162200	Flanking Active TSS	A549	lung

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