Variant report

Variant	rs10189303
Chromosome Location	chr2:178478580-178478581
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	chr2:178255832..178259686-chr2:178477259..178480585,3	K562	blood:

Variant related genes	Relation type
ENSG00000213963	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000018510	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10469714	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs10497493	1.00[JPT][hapmap]
rs12618542	1.00[JPT][hapmap]
rs12619453	1.00[CHB][hapmap]
rs12619506	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13000926	1.00[JPT][hapmap]
rs13010396	1.00[JPT][hapmap]
rs13019660	1.00[JPT][hapmap]
rs13034886	1.00[JPT][hapmap]
rs13419574	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1405716	1.00[JPT][hapmap]
rs1527398	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1527399	1.00[JPT][hapmap]
rs1527402	1.00[JPT][hapmap]
rs1534304	1.00[JPT][hapmap]
rs16865535	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[MEX][hapmap]
rs1997208	1.00[JPT][hapmap]
rs1997209	1.00[JPT][hapmap]
rs2293471	1.00[JPT][hapmap]
rs2365619	0.80[CHD][hapmap];1.00[JPT][hapmap]
rs2886422	1.00[JPT][hapmap]
rs3731802	1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813257	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4893972	1.00[JPT][hapmap]
rs6705405	1.00[JPT][hapmap]
rs6730406	1.00[JPT][hapmap]
rs6734426	0.80[CHD][hapmap];1.00[JPT][hapmap]
rs6734683	1.00[JPT][hapmap]
rs73977671	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7422544	1.00[JPT][hapmap]
rs7594290	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs763757	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs763758	0.82[AMR][1000 genomes];0.86[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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3506731	chr2:178416851-178482200	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3506732	chr2:178416851-178482200	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3520312	chr2:178417102-178482200	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3520313	chr2:178417102-178482200	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv583689	chr2:178468008-178509820	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178462800-178482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:178464200-178482600	Weak transcription	Psoas Muscle	Psoas
3	chr2:178464200-178482600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:178464600-178482400	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:178468400-178482800	Weak transcription	Fetal Brain Male	brain
6	chr2:178471800-178482600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:178472600-178481000	Weak transcription	Fetal Kidney	kidney
8	chr2:178476000-178481000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:178476400-178482800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:178476800-178482600	Weak transcription	HepG2	liver
11	chr2:178477400-178482600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:178477600-178479400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:178477600-178482600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:178477800-178479200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:178477800-178482400	Weak transcription	Brain Substantia Nigra	brain
16	chr2:178477800-178482800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:178477800-178482800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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