Variant report

Variant	rs4543933
Chromosome Location	chr10:45410971-45410972
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	chr10:45402937..45405855-chr10:45407880..45411438,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10900131	1.00[CEU][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11239278	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.82[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11239282	0.94[JPT][hapmap]
rs1332622	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2065465	1.00[CEU][hapmap];0.88[GIH][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes]
rs6593448	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7077388	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7082940	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7085840	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7095112	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs7098274	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7477198	0.83[JPT][hapmap]
rs7911339	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs932986	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517161	chr10:45210690-45416256	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats 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	20 gene(s)	inside rSNPs	diseases
4	nsv466909	chr10:45408011-45446791	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv550714	chr10:45408011-45446791	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4543933	ZNF488	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45401400-45415600	Weak transcription	Fetal Brain Female	brain
2	chr10:45406400-45419000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr10:45407200-45411600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:45407600-45411400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr10:45407800-45422800	Weak transcription	Ovary	ovary
6	chr10:45408600-45417200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr10:45409200-45411000	Enhancers	Primary B cells from cord blood	blood
8	chr10:45409400-45411000	Enhancers	Primary hematopoietic stem cells	blood
9	chr10:45409400-45411400	Enhancers	Fetal Thymus	thymus
10	chr10:45409600-45411000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:45409600-45411200	Weak transcription	Fetal Kidney	kidney
12	chr10:45409600-45411800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr10:45409600-45412800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr10:45409800-45412600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr10:45410000-45411000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:45410000-45411400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr10:45410000-45412800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:45410000-45419000	Weak transcription	Pancreas	Pancrea
19	chr10:45410200-45411000	Enhancers	Dnd41	blood
20	chr10:45410200-45411400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr10:45410200-45430400	Weak transcription	Gastric	stomach
22	chr10:45410400-45412400	Weak transcription	Fetal Heart	heart
23	chr10:45410600-45419600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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