Variant report

Variant	rs11948029
Chromosome Location	chr5:115643769-115643770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1031364	0.83[CHB][hapmap]
rs12515329	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs2112571	1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap]
rs4283832	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs6860662	0.83[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv882747	chr5:115566636-115662510	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	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
6	nsv882748	chr5:115584159-115669950	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv1018001	chr5:115640603-115660285	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11948029	COMMD10	cis	cerebellum	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115628000-115643800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:115629000-115643800	Weak transcription	HUVEC	blood vessel
3	chr5:115634200-115664400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:115634400-115645600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:115637600-115643800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:115638400-115644000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:115639000-115644400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:115639400-115645200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr5:115639600-115647400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:115640000-115644200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:115640200-115645600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
12	chr5:115640200-115647200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr5:115640400-115644400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
14	chr5:115640400-115644400	ZNF genes & repeats	Dnd41	blood
15	chr5:115640400-115645800	ZNF genes & repeats	Primary T cells from cord blood	blood
16	chr5:115640600-115645200	ZNF genes & repeats	Fetal Lung	lung
17	chr5:115640600-115645200	ZNF genes & repeats	Fetal Muscle Leg	muscle
18	chr5:115640600-115645600	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr5:115640800-115643800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:115640800-115645600	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr5:115640800-115658200	Weak transcription	Colonic Mucosa	Colon
22	chr5:115641000-115653000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:115641400-115644000	ZNF genes & repeats	Brain Anterior Caudate	brain
24	chr5:115641400-115644400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:115641400-115645600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr5:115641400-115651800	Weak transcription	Esophagus	oesophagus
27	chr5:115641600-115643800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:115641600-115644000	Strong transcription	HSMM	muscle
29	chr5:115641600-115644200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:115641600-115647200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:115641800-115644000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
32	chr5:115641800-115644600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr5:115642000-115643800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:115642000-115654200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:115642200-115644000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr5:115642400-115644000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr5:115642400-115644000	ZNF genes & repeats	Brain Hippocampus Middle	brain
38	chr5:115642400-115644400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
39	chr5:115642400-115645000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
40	chr5:115642400-115645600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
41	chr5:115642400-115653000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr5:115642600-115644000	ZNF genes & repeats	Fetal Kidney	kidney
43	chr5:115642600-115644000	ZNF genes & repeats	Left Ventricle	heart
44	chr5:115642600-115646000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
45	chr5:115642600-115654400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr5:115642800-115644000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:115642800-115644600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:115642800-115650800	Weak transcription	A549	lung
49	chr5:115642800-115655800	Weak transcription	Fetal Thymus	thymus
50	chr5:115643000-115643800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood

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