Variant report

Variant	rs443186
Chromosome Location	chr19:36345951-36345952
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36339201..36341065-chr19:36345567..36348442,2	K562	blood:
2	chr19:36342113..36343944-chr19:36344326..36346095,2	MCF-7	breast:
3	chr19:36336052..36339154-chr19:36344963..36347982,3	MCF-7	breast:
4	chr19:36208456..36210034-chr19:36345854..36347720,2	K562	blood:
5	chr19:36339670..36341868-chr19:36344808..36347697,2	MCF-7	breast:
6	chr19:36339201..36341036-chr19:36345575..36348442,2	K562	blood:

Variant related genes	Relation type
ENSG00000272333	Chromatin interaction
ENSG00000161270	Chromatin interaction

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

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

rs_ID	r²[population]
rs11084834	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11880909	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11881358	1.00[EUR][1000 genomes]
rs11881364	1.00[EUR][1000 genomes]
rs11881451	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16970735	1.00[EUR][1000 genomes]
rs16970737	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16970742	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16970744	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs172985	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2227909	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2285450	0.82[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs230260	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs230261	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs230262	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs230263	1.00[EUR][1000 genomes]
rs230264	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs230265	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs230266	1.00[EUR][1000 genomes]
rs230267	1.00[EUR][1000 genomes]
rs230268	0.91[EUR][1000 genomes]
rs230269	1.00[EUR][1000 genomes]
rs2871778	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs34006827	1.00[EUR][1000 genomes]
rs35423326	1.00[EUR][1000 genomes]
rs376240	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs392702	0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs393116	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs401824	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs404299	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs412175	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs417786	0.86[EUR][1000 genomes]
rs437168	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.91[LWK][hapmap];0.85[TSI][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs447783	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55797913	1.00[EUR][1000 genomes]
rs55816190	1.00[EUR][1000 genomes]
rs56117924	0.81[ASN][1000 genomes]
rs56264349	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57053076	1.00[EUR][1000 genomes]
rs57668132	1.00[EUR][1000 genomes]
rs58098901	1.00[EUR][1000 genomes]
rs58109577	1.00[EUR][1000 genomes]
rs58291714	0.95[EUR][1000 genomes]
rs58504183	0.81[EUR][1000 genomes]
rs58551711	0.81[EUR][1000 genomes]
rs59123406	1.00[EUR][1000 genomes]
rs59582363	0.82[ASN][1000 genomes]
rs59658571	1.00[EUR][1000 genomes]
rs60268250	0.95[EUR][1000 genomes]
rs60576074	0.95[EUR][1000 genomes]
rs60869994	0.95[EUR][1000 genomes]
rs60935148	0.81[EUR][1000 genomes]
rs61623584	1.00[EUR][1000 genomes]
rs619833	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248157	0.91[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs7251744	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7251879	1.00[MEX][hapmap];0.85[TSI][hapmap]
rs7253086	0.81[EUR][1000 genomes]
rs7256433	0.81[EUR][1000 genomes]
rs7258909	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73590883	0.85[EUR][1000 genomes]
rs73594463	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73599600	0.81[EUR][1000 genomes]
rs73928331	0.90[EUR][1000 genomes]
rs73928332	1.00[EUR][1000 genomes]
rs73928333	1.00[EUR][1000 genomes]
rs807660	1.00[EUR][1000 genomes]
rs8106732	1.00[EUR][1000 genomes]
rs8110926	1.00[EUR][1000 genomes]
rs8111209	1.00[EUR][1000 genomes]
rs8111348	1.00[EUR][1000 genomes]
rs8113704	0.83[CHD][hapmap];1.00[MEX][hapmap]
rs879407	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9749325	1.00[EUR][1000 genomes]
rs9749492	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	esv3397651	chr19:36326933-36377725	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv911639	chr19:36342909-36365985	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36337000-36347000	Weak transcription	Right Atrium	heart
2	chr19:36343800-36346800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:36345400-36347000	Bivalent Enhancer	HepG2	liver
4	chr19:36345600-36346200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:36345600-36346200	Enhancers	Pancreas	Pancrea
6	chr19:36345600-36346600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:36345600-36346600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:36345600-36346600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr19:36345600-36346800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr19:36345600-36347200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:36345600-36347200	Enhancers	A549	lung
12	chr19:36345800-36346000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:36345800-36346200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:36345800-36346800	Enhancers	Fetal Brain Female	brain
15	chr19:36345800-36347200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr19:36345800-36347200	Bivalent Enhancer	Fetal Muscle Leg	muscle

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