Variant report

Variant	rs1105298
Chromosome Location	chr5:17234578-17234579
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	chr5:17232864..17234687-chr5:17235598..17237612,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2242415	0.87[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2291236	0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4288115	1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62348040	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7733967	0.93[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv830218	chr5:17093162-17290045	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1105298	C1orf158	trans	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17222800-17239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:17223200-17235800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:17225600-17241600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:17228800-17237400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:17229000-17258000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:17229400-17238800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:17229400-17241200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:17229400-17243800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:17229600-17235000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:17229600-17241600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:17229800-17235800	Weak transcription	HUVEC	blood vessel
12	chr5:17229800-17236000	Weak transcription	Aorta	Aorta
13	chr5:17229800-17238000	Weak transcription	HMEC	breast
14	chr5:17229800-17240000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:17229800-17241200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:17229800-17241200	Weak transcription	Ovary	ovary
17	chr5:17229800-17241600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:17229800-17241800	Weak transcription	Brain Angular Gyrus	brain
19	chr5:17229800-17261600	Weak transcription	Fetal Stomach	stomach
20	chr5:17230000-17241600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:17231200-17236200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:17231600-17235000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:17231600-17235400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:17232000-17237800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:17232000-17239400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:17232000-17259200	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:17232200-17241600	Weak transcription	Brain Germinal Matrix	brain
28	chr5:17232400-17241200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:17232400-17254400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:17232600-17235400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:17232800-17234600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:17232800-17235000	Genic enhancers	Fetal Brain Female	brain
33	chr5:17232800-17238200	Weak transcription	Fetal Lung	lung
34	chr5:17232800-17238600	Weak transcription	HSMMtube	muscle
35	chr5:17232800-17243200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:17232800-17247400	Genic enhancers	A549	lung
37	chr5:17232800-17249000	Weak transcription	Placenta	Placenta
38	chr5:17232800-17251400	Weak transcription	GM12878-XiMat	blood
39	chr5:17232800-17255600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:17232800-17260000	Weak transcription	Fetal Kidney	kidney
41	chr5:17232800-17278800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr5:17233000-17235600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:17233000-17238400	Weak transcription	HSMM	muscle
44	chr5:17233000-17255600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:17233200-17234600	Enhancers	Osteobl	bone
46	chr5:17233400-17234800	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr5:17233400-17236200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:17233400-17236200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr5:17233400-17236200	Enhancers	Primary B cells from peripheral blood	blood
50	chr5:17233400-17237200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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