Variant report

Variant	rs4943031
Chromosome Location	chr13:52423738-52423739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52422501..52424987-chr13:52427770..52430154,2	MCF-7	breast:
2	chr13:52398927..52403579-chr13:52421576..52424929,4	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs2026127	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2408529	0.85[EUR][1000 genomes]
rs2408533	0.81[EUR][1000 genomes]
rs2408534	0.89[EUR][1000 genomes]
rs4245358	0.89[EUR][1000 genomes]
rs4245359	0.89[EUR][1000 genomes]
rs4245360	0.89[EUR][1000 genomes]
rs4245361	0.89[EUR][1000 genomes]
rs4245362	0.89[EUR][1000 genomes]
rs4245363	0.89[EUR][1000 genomes]
rs4287464	0.85[EUR][1000 genomes]
rs4297595	0.89[EUR][1000 genomes]
rs4386034	0.89[EUR][1000 genomes]
rs479752	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4943032	0.89[EUR][1000 genomes]
rs4943035	0.89[EUR][1000 genomes]
rs527995	0.89[EUR][1000 genomes]
rs598957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs684955	0.89[EUR][1000 genomes]
rs7334073	0.85[EUR][1000 genomes]
rs7334251	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7338350	0.89[EUR][1000 genomes]
rs74085835	0.89[EUR][1000 genomes]
rs7986191	0.85[EUR][1000 genomes]
rs8002613	0.89[EUR][1000 genomes]
rs913899	0.89[EUR][1000 genomes]
rs928168	0.89[EUR][1000 genomes]
rs9535785	1.00[CEU][hapmap]
rs9535788	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv900081	chr13:52406404-52426096	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52419600-52423800	Weak transcription	Spleen	Spleen
2	chr13:52419600-52425800	Weak transcription	Right Atrium	heart
3	chr13:52419600-52426600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:52420000-52432600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr13:52422400-52424000	Enhancers	HepG2	liver
6	chr13:52422600-52423800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:52422600-52423800	Enhancers	NHLF	lung
8	chr13:52422600-52424000	Enhancers	NH-A	brain
9	chr13:52422800-52423800	Enhancers	HSMM	muscle
10	chr13:52422800-52423800	Enhancers	HUVEC	blood vessel
11	chr13:52422800-52424000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:52422800-52424000	Enhancers	Aorta	Aorta
13	chr13:52422800-52424200	Enhancers	Placenta	Placenta
14	chr13:52423200-52426000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr13:52423400-52424000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:52423600-52424000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr13:52423600-52424000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr13:52423600-52424000	Enhancers	Ovary	ovary
19	chr13:52423600-52424200	Enhancers	Monocytes-CD14+_RO01746	blood

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