Variant report

Variant	rs2103201
Chromosome Location	chr10:50770315-50770316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50769095..50771417-chr10:50774522..50778090,3	K562	blood:
2	chr10:50745533..50748359-chr10:50769870..50771908,2	MCF-7	breast:
3	chr10:50749402..50751390-chr10:50767694..50770332,2	K562	blood:
4	chr10:50768064..50770893-chr10:50771784..50774255,2	K562	blood:
5	chr10:50765967..50768022-chr10:50768615..50770437,2	MCF-7	breast:
6	chr10:50760754..50763367-chr10:50770167..50772403,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258838	Chromatin interaction
ENSG00000225830	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1018603	1.00[ASN][1000 genomes]
rs10745261	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776572	1.00[ASN][1000 genomes]
rs10776573	1.00[ASN][1000 genomes]
rs10776577	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857502	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101147	1.00[ASN][1000 genomes]
rs1475255	1.00[ASN][1000 genomes]
rs1917800	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924490	1.00[ASN][1000 genomes]
rs1924492	1.00[ASN][1000 genomes]
rs2104346	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240509	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4253026	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253073	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253077	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253087	1.00[ASN][1000 genomes]
rs4253120	1.00[ASN][1000 genomes]
rs4253132	1.00[ASN][1000 genomes]
rs4253162	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253164	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253179	1.00[ASN][1000 genomes]
rs4838523	1.00[ASN][1000 genomes]
rs4838524	1.00[ASN][1000 genomes]
rs4838530	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57509152	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537536	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537538	1.00[ASN][1000 genomes]
rs7072383	0.87[EUR][1000 genomes]
rs7076173	1.00[ASN][1000 genomes]
rs7080017	1.00[ASN][1000 genomes]
rs7091005	1.00[ASN][1000 genomes]
rs72792895	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72793798	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902661	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7903788	1.00[ASN][1000 genomes]
rs7903930	1.00[ASN][1000 genomes]
rs7916873	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7923762	1.00[ASN][1000 genomes]
rs912470	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958967	1.00[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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50761600-50770400	Weak transcription	HSMM	muscle
2	chr10:50763400-50771000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:50767000-50770800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr10:50768200-50771200	Weak transcription	HSMMtube	muscle
5	chr10:50768600-50771000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:50768600-50773200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr10:50769000-50771200	Weak transcription	NH-A	brain
8	chr10:50769000-50771200	Weak transcription	NHDF-Ad	bronchial
9	chr10:50769200-50770400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:50769200-50771000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:50769200-50771000	Weak transcription	HMEC	breast
12	chr10:50769400-50770800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:50770000-50773000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:50770000-50773400	Enhancers	Osteobl	bone
15	chr10:50770200-50770400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:50770200-50770600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr10:50770200-50770600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:50770200-50771200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr10:50770200-50773400	Enhancers	Hela-S3	cervix
20	chr10:50770200-50773800	Enhancers	Muscle Satellite Cultured Cells	--

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