Variant report

Variant	rs2676824
Chromosome Location	chr10:93730592-93730593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:93730374..93731888-chr10:93735388..93738346,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10430650	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10509640	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10786024	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10786025	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10786026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10786027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10882019	0.81[GIH][hapmap];0.84[JPT][hapmap]
rs1104012	0.80[JPT][hapmap]
rs11186744	0.83[ASN][1000 genomes]
rs11817194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12251446	0.88[ASN][1000 genomes]
rs12253972	0.89[ASN][1000 genomes]
rs12254369	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12256118	0.81[GIH][hapmap];0.84[JPT][hapmap]
rs12259055	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12262352	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12263532	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12263639	0.89[ASN][1000 genomes]
rs12267763	0.89[ASN][1000 genomes]
rs12765070	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1711850	0.81[GIH][hapmap];0.84[JPT][hapmap]
rs1935864	0.84[JPT][hapmap]
rs2048901	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2252200	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2676806	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2676821	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2676823	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2792019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2792024	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4288679	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4509678	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4642987	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4933703	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6583801	0.81[GIH][hapmap];0.84[JPT][hapmap]
rs7070076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7071659	0.89[ASN][1000 genomes]
rs7076665	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7901434	0.89[ASN][1000 genomes]
rs7909870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7911552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7912721	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7915659	0.88[ASN][1000 genomes]
rs7924014	0.89[ASN][1000 genomes]
rs833364	0.84[JPT][hapmap]
rs833365	0.83[GIH][hapmap];0.84[JPT][hapmap]
rs833368	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs833380	0.81[GIH][hapmap];0.84[JPT][hapmap]
rs833383	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv1051226	chr10:93711296-93915586	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv540745	chr10:93711296-93915586	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1042818	chr10:93715483-93855032	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2676824	MARCH5	cis	multi-tissue	Pritchard
rs2676824	BTAF1	cis	parietal	SCAN
rs2676824	CPEB3	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93685800-93735200	Weak transcription	Fetal Heart	heart
2	chr10:93690800-93742400	Weak transcription	Stomach Mucosa	stomach
3	chr10:93691800-93741400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:93696800-93735600	Weak transcription	Pancreas	Pancrea
5	chr10:93697000-93735600	Weak transcription	Esophagus	oesophagus
6	chr10:93697800-93748800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr10:93699600-93750600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr10:93704800-93807400	Weak transcription	Gastric	stomach
9	chr10:93708000-93732600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr10:93708600-93730600	Strong transcription	Liver	Liver
11	chr10:93708600-93733200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr10:93709000-93771800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr10:93709200-93731000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:93709400-93740000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr10:93710000-93750200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:93710400-93736600	Strong transcription	Fetal Thymus	thymus
17	chr10:93710800-93736200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:93711000-93730600	Strong transcription	HepG2	liver
19	chr10:93711000-93731000	Strong transcription	Duodenum Mucosa	Duodenum
20	chr10:93711000-93731200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:93711000-93732400	Strong transcription	Adipose Nuclei	Adipose
22	chr10:93711000-93732600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr10:93711200-93731200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr10:93713600-93733200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:93713600-93744400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:93714000-93732400	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr10:93714000-93734400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr10:93714400-93743800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr10:93714600-93768000	Weak transcription	Right Ventricle	heart
30	chr10:93715400-93741400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr10:93716200-93731200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr10:93718400-93734200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:93718400-93774000	Weak transcription	Spleen	Spleen
34	chr10:93719000-93734200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:93719400-93761000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr10:93720000-93735400	Weak transcription	Brain Hippocampus Middle	brain
37	chr10:93720000-93741400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr10:93720000-93757400	Weak transcription	Small Intestine	intestine
39	chr10:93720200-93734200	Weak transcription	NHLF	lung
40	chr10:93720200-93741400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr10:93720400-93741800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr10:93720400-93757400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr10:93720600-93742600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr10:93720600-93742800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr10:93721200-93734200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:93721200-93741200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr10:93721200-93742000	Weak transcription	Fetal Kidney	kidney
48	chr10:93721400-93742000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr10:93721600-93741600	Weak transcription	Brain Anterior Caudate	brain
50	chr10:93721600-93743200	Weak transcription	Lung	lung

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