Variant report

Variant	rs4768204
Chromosome Location	chr12:40351086-40351087
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40350301-40351146..12:40703633-40711447	GM12878	blood:

Variant related genes	Relation type
ENSG00000188906	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1005956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10784338	0.83[JPT][hapmap]
rs10784353	0.83[JPT][hapmap]
rs10784356	0.83[JPT][hapmap]
rs10784359	0.91[JPT][hapmap]
rs10784369	0.83[JPT][hapmap]
rs10877835	0.84[ASW][hapmap]
rs10877891	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs10877990	0.83[JPT][hapmap]
rs10878049	0.91[JPT][hapmap]
rs10878089	0.91[JPT][hapmap]
rs11174450	0.89[CEU][hapmap]
rs11174478	0.92[CEU][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174609	0.93[CHB][hapmap];0.91[JPT][hapmap]
rs11175024	0.91[JPT][hapmap]
rs12813098	0.91[JPT][hapmap]
rs12823555	0.91[JPT][hapmap]
rs1586038	0.83[JPT][hapmap]
rs1600866	0.83[JPT][hapmap]
rs17560847	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2128277	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs2404352	0.83[JPT][hapmap]
rs2896825	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs3925535	0.91[JPT][hapmap]
rs4625545	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs4767956	0.85[CEU][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4768200	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs530602	0.93[CHB][hapmap];0.91[JPT][hapmap]
rs6581504	0.91[JPT][hapmap]
rs716268	0.91[JPT][hapmap]
rs7313209	0.91[JPT][hapmap]
rs7313231	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7953129	0.83[JPT][hapmap]
rs7954875	0.83[JPT][hapmap]
rs7959498	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7960662	0.83[JPT][hapmap]
rs7970812	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs9669240	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052202	chr12:40322607-40406760	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40338000-40366000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:40347800-40369800	Weak transcription	Pancreas	Pancrea
3	chr12:40348200-40361400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:40350600-40351800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:40350800-40351200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:40351000-40351400	Enhancers	HUES48 Cell Line	embryonic stem cell

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