Variant report

Variant	rs34350522
Chromosome Location	chr5:43560400-43560401
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	chr5:43560400-43560550	AG04450	lung:	n/a	n/a
2	POLR2A	chr5:43559511-43560529	K562	blood:	n/a	n/a
3	MYC	chr5:43560243-43560490	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr5:43560311-43560452	ProgFib	skin:	n/a	n/a
5	USF2	chr5:43560309-43560503	Hela-S3	cervix:	n/a	chr5:43560310-43560321
6	MAX	chr5:43560297-43560482	Hela-S3	cervix:	n/a	n/a
7	ESR1	chr5:43560201-43560560	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43552832..43560830-chr5:43598877..43605844,26	MCF-7	breast:
2	chr5:43558879..43560844-chr5:43571718..43573833,2	K562	blood:

Variant related genes	Relation type
PAIP1	TF binding region
ENSG00000248092	Chromatin interaction
ENSG00000112992	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10461740	1.00[AMR][1000 genomes]
rs10461741	0.83[ASN][1000 genomes]
rs10462050	1.00[AMR][1000 genomes]
rs10462052	0.83[ASN][1000 genomes]
rs10941642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12653472	1.00[AMR][1000 genomes]
rs12653645	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12654258	0.85[ASN][1000 genomes]
rs12655350	1.00[ASN][1000 genomes]
rs12656199	1.00[AMR][1000 genomes]
rs12656650	1.00[AMR][1000 genomes]
rs12657635	1.00[AMR][1000 genomes]
rs12657724	1.00[AMR][1000 genomes]
rs12658205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12659627	1.00[AMR][1000 genomes]
rs13155888	1.00[AMR][1000 genomes]
rs13158442	1.00[AMR][1000 genomes]
rs13158796	0.83[ASN][1000 genomes]
rs13161668	1.00[AMR][1000 genomes]
rs13161770	1.00[AMR][1000 genomes]
rs13165869	1.00[AMR][1000 genomes]
rs13167838	1.00[AMR][1000 genomes]
rs13168053	1.00[AMR][1000 genomes]
rs13173517	1.00[AMR][1000 genomes]
rs13177107	0.83[ASN][1000 genomes]
rs13179680	1.00[AMR][1000 genomes]
rs13183407	1.00[AMR][1000 genomes]
rs13186372	0.83[ASN][1000 genomes]
rs13187073	0.85[ASN][1000 genomes]
rs13187313	0.83[ASN][1000 genomes]
rs13188884	1.00[AMR][1000 genomes]
rs13190614	1.00[AMR][1000 genomes]
rs2042950	0.85[ASN][1000 genomes]
rs34096155	1.00[AMR][1000 genomes]
rs34141186	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34179982	1.00[AMR][1000 genomes]
rs34211578	1.00[AMR][1000 genomes]
rs34455365	1.00[AMR][1000 genomes]
rs34512505	1.00[AMR][1000 genomes]
rs34617389	1.00[AMR][1000 genomes]
rs34788563	1.00[AMR][1000 genomes]
rs34792822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34868623	1.00[AMR][1000 genomes]
rs34973456	1.00[AMR][1000 genomes]
rs34980504	1.00[AMR][1000 genomes]
rs34991197	1.00[AMR][1000 genomes]
rs35136550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35171369	1.00[AMR][1000 genomes]
rs35201656	0.83[ASN][1000 genomes]
rs35393262	0.81[ASN][1000 genomes]
rs35478855	1.00[AMR][1000 genomes]
rs35493041	0.85[ASN][1000 genomes]
rs35590922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35602154	1.00[AMR][1000 genomes]
rs35707409	1.00[AMR][1000 genomes]
rs35713376	1.00[AMR][1000 genomes]
rs35733458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35826690	0.83[ASN][1000 genomes]
rs35890297	1.00[ASN][1000 genomes]
rs35923573	1.00[AMR][1000 genomes]
rs35966682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35979310	0.83[ASN][1000 genomes]
rs36076336	1.00[AMR][1000 genomes]
rs36104847	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4533897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62367607	0.83[ASN][1000 genomes]
rs71629170	1.00[AMR][1000 genomes]
rs71629171	1.00[AMR][1000 genomes]
rs71629172	1.00[AMR][1000 genomes]
rs71629174	1.00[AMR][1000 genomes]
rs71629175	1.00[AMR][1000 genomes]
rs71629177	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs71629178	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs71629180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71629201	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1835614	chr5:43515280-43561759	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv1837000	chr5:43515280-43561759	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	esv3471239	chr5:43541792-43587904	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
7	esv3471240	chr5:43541792-43587904	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
8	esv1792602	chr5:43556410-43561759	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	45 gene(s)	inside rSNPs	diseases
9	esv1802364	chr5:43556410-43561759	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43557800-43560400	Weak transcription	Left Ventricle	heart
2	chr5:43557800-43561000	Weak transcription	HSMM	muscle
3	chr5:43557800-43561600	Weak transcription	HSMMtube	muscle
4	chr5:43557800-43563400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:43557800-43563400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:43557800-43571400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:43557800-43584600	Weak transcription	Psoas Muscle	Psoas
8	chr5:43558000-43561000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:43558000-43561000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:43558000-43561000	Weak transcription	A549	lung
11	chr5:43558000-43561800	Enhancers	GM12878-XiMat	blood
12	chr5:43558000-43563400	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:43558000-43563400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:43559200-43562800	Enhancers	NHDF-Ad	bronchial
15	chr5:43559600-43561600	Enhancers	NHLF	lung
16	chr5:43559600-43562600	Enhancers	Fetal Heart	heart
17	chr5:43559800-43560800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:43559800-43562200	Enhancers	Osteobl	bone
19	chr5:43559800-43562800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:43560200-43560400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:43560200-43560600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:43560200-43560600	Enhancers	Hela-S3	cervix
23	chr5:43560200-43561000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:43560200-43562800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:43560200-43584400	Weak transcription	K562	blood
26	chr5:43560400-43560800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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