Variant report

Variant	rs7701723
Chromosome Location	chr5:115718668-115718669
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115711711..115714418-chr5:115718644..115720507,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10037895	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10038877	0.84[AMR][1000 genomes]
rs10054441	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10063312	0.87[MEX][hapmap]
rs11241374	0.87[MEX][hapmap]
rs12516272	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12657249	0.87[MEX][hapmap]
rs1421846	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1421847	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1677415	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs253950	0.87[MEX][hapmap]
rs253961	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs254151	0.82[MEX][hapmap]
rs27368	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28031	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6594966	0.86[AMR][1000 genomes]
rs6594967	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6897517	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7705679	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7708765	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7719798	0.86[AMR][1000 genomes]
rs7722563	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs929752	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9327000	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[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	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	esv2763489	chr5:115693166-115733327	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7701723	COMMD10	cis	lymphoblastoid	seeQTL
rs7701723	COMMD10	cis	parietal	SCAN
rs7701723	COMMD10	cis	multi-tissue	Pritchard

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115685000-115721400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr5:115697600-115748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:115698000-115722800	Weak transcription	Pancreas	Pancrea
4	chr5:115706000-115724400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:115706800-115723200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr5:115707400-115722600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:115707600-115748400	Weak transcription	Fetal Intestine Large	intestine
8	chr5:115708400-115722400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr5:115708600-115754000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:115708800-115720000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:115708800-115722400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:115709400-115722800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr5:115711800-115730600	Weak transcription	Gastric	stomach
14	chr5:115712000-115722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:115713400-115719200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr5:115714400-115724400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:115714400-115730200	Weak transcription	Right Ventricle	heart
18	chr5:115714600-115724200	Weak transcription	Psoas Muscle	Psoas
19	chr5:115715600-115722800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:115715600-115724400	Weak transcription	Fetal Kidney	kidney
21	chr5:115716200-115719000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:115717000-115719000	Enhancers	Adipose Nuclei	Adipose
23	chr5:115717200-115719400	Strong transcription	Primary T cells from cord blood	blood
24	chr5:115717400-115719000	Enhancers	HUVEC	blood vessel
25	chr5:115717800-115724200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr5:115717800-115724200	Weak transcription	Left Ventricle	heart
27	chr5:115717800-115724200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:115717800-115724400	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:115718000-115718800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:115718000-115718800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:115718000-115718800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:115718000-115718800	Enhancers	Spleen	Spleen
33	chr5:115718000-115719400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:115718000-115719600	Strong transcription	Fetal Intestine Small	intestine
35	chr5:115718200-115718800	Enhancers	Brain Anterior Caudate	brain
36	chr5:115718200-115723200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:115718200-115724400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:115718200-115724600	Weak transcription	Fetal Brain Female	brain
39	chr5:115718400-115718800	Enhancers	Brain Angular Gyrus	brain
40	chr5:115718400-115718800	Enhancers	Brain Cingulate Gyrus	brain
41	chr5:115718400-115718800	Enhancers	Brain Substantia Nigra	brain
42	chr5:115718400-115719000	Enhancers	Brain Hippocampus Middle	brain
43	chr5:115718400-115737000	Weak transcription	Primary B cells from cord blood	blood
44	chr5:115718600-115718800	Enhancers	Placenta	Placenta
45	chr5:115718600-115719000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr5:115718600-115719000	Enhancers	Lung	lung
47	chr5:115718600-115719000	Enhancers	Right Atrium	heart
48	chr5:115718600-115748400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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