Variant report

Variant	rs27368
Chromosome Location	chr5:115693892-115693893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115693595..115697814-chr5:115698835..115703078,5	K562	blood:
2	chr5:115692236..115694986-chr5:115697167..115699493,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10037895	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10038877	0.81[EUR][1000 genomes]
rs10054441	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10056823	0.83[CEU][hapmap];0.84[JPT][hapmap];0.83[TSI][hapmap]
rs10063312	0.85[ASW][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.85[TSI][hapmap]
rs1090078	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11241374	0.85[ASW][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.85[TSI][hapmap]
rs11241375	0.81[CHB][hapmap]
rs12109104	0.83[CEU][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.83[TSI][hapmap]
rs12516272	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12657249	0.85[ASW][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.83[TSI][hapmap]
rs13159102	0.81[CHB][hapmap]
rs13161987	0.84[JPT][hapmap]
rs1421846	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1421847	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs149131	0.82[ASN][1000 genomes]
rs1508875	0.83[ASW][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.81[TSI][hapmap]
rs153580	0.82[ASN][1000 genomes]
rs153593	0.82[ASN][1000 genomes]
rs153594	0.82[ASN][1000 genomes]
rs1644268	0.82[ASN][1000 genomes]
rs1669135	0.82[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap]
rs1669136	0.83[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap]
rs1677405	0.83[CEU][hapmap]
rs1677406	0.83[CEU][hapmap];0.90[JPT][hapmap]
rs1677415	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs173813	0.86[ASN][1000 genomes]
rs185263	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs253950	0.83[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap]
rs253951	0.81[ASN][1000 genomes]
rs253952	0.81[ASN][1000 genomes]
rs253959	0.83[CEU][hapmap];0.92[CHD][hapmap];0.86[MEX][hapmap];0.80[TSI][hapmap]
rs253961	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs254150	0.81[JPT][hapmap]
rs254151	0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs254152	0.87[CHD][hapmap];0.81[JPT][hapmap]
rs254171	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs254172	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs254173	0.83[CEU][hapmap];0.90[JPT][hapmap]
rs254174	0.83[CEU][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.83[TSI][hapmap]
rs27125	0.82[ASN][1000 genomes]
rs28031	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594966	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6594967	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6897517	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs712561	0.82[CHB][hapmap]
rs712591	0.85[ASN][1000 genomes]
rs712601	0.86[ASN][1000 genomes]
rs7701723	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7705679	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7708765	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7719798	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7722563	0.82[EUR][1000 genomes]
rs784479	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs785367	0.90[CHD][hapmap];0.81[JPT][hapmap]
rs785373	0.85[ASN][1000 genomes]
rs785375	0.85[ASN][1000 genomes]
rs785377	0.87[ASN][1000 genomes]
rs803967	0.83[CEU][hapmap];0.90[JPT][hapmap]
rs809210	0.84[CEU][hapmap]
rs929752	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9327000	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv869754	chr5:115634234-115696094	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs27368	COMMD10	cis	parietal	SCAN
rs27368	COMMD10	cis	lymphoblastoid	seeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115680600-115695800	Weak transcription	Ovary	ovary
2	chr5:115684400-115694400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:115684400-115705800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:115684800-115697800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr5:115685000-115721400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr5:115685200-115696800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:115686400-115697000	Weak transcription	Fetal Lung	lung
8	chr5:115686600-115697400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:115687200-115706400	Weak transcription	Liver	Liver
10	chr5:115687800-115694000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr5:115687800-115696800	Weak transcription	Pancreas	Pancrea
12	chr5:115687800-115697000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:115688000-115696800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:115688600-115695000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:115688600-115696600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:115689200-115694000	Weak transcription	Primary B cells from cord blood	blood
17	chr5:115689400-115694200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr5:115690000-115697600	Weak transcription	Primary T cells from cord blood	blood
19	chr5:115691800-115695000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr5:115692200-115694400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr5:115692800-115695800	Enhancers	Fetal Heart	heart
22	chr5:115693000-115695400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:115693200-115695600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:115693200-115696800	Weak transcription	Fetal Intestine Small	intestine
25	chr5:115693400-115696600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:115693400-115697000	Enhancers	Fetal Muscle Leg	muscle
27	chr5:115693600-115696800	Enhancers	Right Ventricle	heart
28	chr5:115693800-115694200	Enhancers	Fetal Muscle Trunk	muscle
29	chr5:115693800-115694200	Enhancers	GM12878-XiMat	blood
30	chr5:115693800-115694600	Enhancers	Left Ventricle	heart
31	chr5:115693800-115694600	Enhancers	Psoas Muscle	Psoas
32	chr5:115693800-115695200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:115693800-115695200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:115693800-115695200	Enhancers	Stomach Smooth Muscle	stomach
35	chr5:115693800-115695200	Enhancers	K562	blood
36	chr5:115693800-115696000	Enhancers	Primary B cells from peripheral blood	blood
37	chr5:115693800-115696000	Enhancers	Right Atrium	heart
38	chr5:115693800-115696400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:115693800-115696800	Enhancers	Primary hematopoietic stem cells	blood

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