Variant report

Variant	rs536631
Chromosome Location	chr4:130065648-130065649
allele	A/C
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	POLR2A	chr4:130065324-130065722	K562	blood:	n/a	n/a

Variant related genes	Relation type
ZSWIM5P3	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10857134	0.95[CEU][hapmap]
rs12650832	0.90[CEU][hapmap]
rs1450727	0.95[CEU][hapmap]
rs1699390	0.95[CEU][hapmap]
rs1709416	0.80[EUR][1000 genomes]
rs1709417	0.81[EUR][1000 genomes]
rs175964	0.95[CEU][hapmap]
rs1947269	0.90[CEU][hapmap]
rs2218814	0.95[CEU][hapmap]
rs2592953	0.95[CEU][hapmap]
rs2592955	0.95[CEU][hapmap]
rs2592956	0.95[CEU][hapmap]
rs280602	0.95[CEU][hapmap]
rs2893267	0.95[CEU][hapmap]
rs337264	0.95[CEU][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs337265	0.86[AMR][1000 genomes]
rs337273	0.81[AMR][1000 genomes]
rs492565	0.84[AMR][1000 genomes]
rs4975192	0.85[CEU][hapmap]
rs4975287	0.80[CEU][hapmap]
rs4975288	0.95[CEU][hapmap]
rs4975289	0.95[CEU][hapmap]
rs4975290	0.95[CEU][hapmap]
rs4975291	0.89[CEU][hapmap]
rs4975292	0.95[CEU][hapmap]
rs498435	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs502319	0.81[AMR][1000 genomes]
rs6814109	0.94[CEU][hapmap]
rs6817901	0.95[CEU][hapmap]
rs6820403	0.95[CEU][hapmap]
rs6820637	0.95[CEU][hapmap]
rs6821814	0.95[CEU][hapmap]
rs6830229	0.94[CEU][hapmap]
rs789986	0.95[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv511266	chr4:130060230-130072652	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3464537	chr4:130064302-130070200	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3464535	chr4:130065027-130069375	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	inside rSNPs	diseases
7	esv3412616	chr4:130065202-130069600	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	inside rSNPs	diseases
8	nsv595400	chr4:130065359-130068258	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	diseases
9	esv3441296	chr4:130065502-130069450	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	diseases
10	nsv822719	chr4:130065523-130068581	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130060200-130065800	Weak transcription	K562	blood
2	chr4:130060400-130065800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:130060400-130066000	Weak transcription	Pancreas	Pancrea
4	chr4:130063200-130065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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