Variant report

Variant	rs11252797
Chromosome Location	chr10:4909402-4909403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:4909252..4911999-chr10:4912912..4915277,2	K562	blood:
2	chr10:4898074..4900922-chr10:4908186..4910154,2	MCF-7	breast:
3	chr10:4908257..4910517-chr10:5476484..5478075,2	K562	blood:
4	chr10:4908339..4911131-chr10:4925316..4927637,3	K562	blood:
5	chr10:4889478..4893997-chr10:4907910..4911141,5	K562	blood:
6	chr10:4891671..4893997-chr10:4908116..4911487,5	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10430753	0.83[EUR][1000 genomes]
rs10430775	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10430776	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10904354	0.82[EUR][1000 genomes]
rs10904355	0.80[EUR][1000 genomes]
rs10904358	0.83[EUR][1000 genomes]
rs10904359	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10904360	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10904361	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10904367	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10904368	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11252793	0.83[EUR][1000 genomes]
rs11252795	0.82[AFR][1000 genomes]
rs11252798	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11252799	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11252800	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11252801	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11252802	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11252803	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11252804	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11252805	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11813511	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1869218	0.81[EUR][1000 genomes]
rs1869221	0.81[EUR][1000 genomes]
rs1901644	0.81[EUR][1000 genomes]
rs1993181	0.81[EUR][1000 genomes]
rs2123354	0.81[EUR][1000 genomes]
rs2397981	0.81[EUR][1000 genomes]
rs2397984	0.81[EUR][1000 genomes]
rs2924265	0.81[EUR][1000 genomes]
rs2924267	0.81[EUR][1000 genomes]
rs2961568	0.81[EUR][1000 genomes]
rs2961576	0.81[EUR][1000 genomes]
rs2961578	0.81[EUR][1000 genomes]
rs2961586	0.81[EUR][1000 genomes]
rs2961589	0.81[EUR][1000 genomes]
rs2961590	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2961591	0.81[EUR][1000 genomes]
rs34413015	0.82[EUR][1000 genomes]
rs34835589	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs35710579	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4478885	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4537666	0.82[AFR][1000 genomes]
rs4551663	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4880692	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4880693	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4880694	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4880695	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4880696	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4880697	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4880698	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4881367	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55708378	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55730798	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55744013	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55909699	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55963870	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56095721	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56259387	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56375548	0.86[AFR][1000 genomes]
rs7067785	0.81[EUR][1000 genomes]
rs7069610	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7076588	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7086904	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7089338	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7097854	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7894644	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7900145	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7900816	0.81[EUR][1000 genomes]
rs7910207	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7911527	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7919113	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr10:4886000-4909800	Weak transcription	Left Ventricle	heart
2	chr10:4892200-4917800	Weak transcription	Primary T cells from cord blood	blood
3	chr10:4893000-4925000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr10:4899800-4913000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:4903400-4924800	Weak transcription	A549	lung
6	chr10:4907600-4909600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:4908600-4910600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:4908800-4909600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:4908800-4909800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:4908800-4944200	Weak transcription	Adipose Nuclei	Adipose
11	chr10:4909000-4909800	Enhancers	HUVEC	blood vessel
12	chr10:4909000-4910600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:4909200-4912800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr10:4909400-4910000	Enhancers	Stomach Mucosa	stomach
15	chr10:4909400-4910600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr10:4909400-4910800	Flanking Active TSS	K562	blood

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