Variant report

Variant	rs351175
Chromosome Location	chr15:74528985-74528986
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11632233	0.86[JPT][hapmap];0.87[MEX][hapmap]
rs11633101	0.81[JPT][hapmap]
rs11639316	0.89[JPT][hapmap]
rs11858661	0.82[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs11858677	0.88[ASN][1000 genomes]
rs12901093	0.92[ASN][1000 genomes]
rs12913651	0.86[JPT][hapmap]
rs168432	0.81[JPT][hapmap]
rs2627305	0.88[ASN][1000 genomes]
rs351152	0.88[ASN][1000 genomes]
rs351154	0.88[ASN][1000 genomes]
rs351155	0.88[ASN][1000 genomes]
rs351159	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs351160	0.91[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs351170	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs351172	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3843700	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3848162	0.81[JPT][hapmap]
rs3848164	0.85[ASN][1000 genomes]
rs58029965	0.84[ASN][1000 genomes]
rs61327819	0.88[ASN][1000 genomes]
rs62003670	0.88[ASN][1000 genomes]
rs6495091	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs748608	0.82[CHD][hapmap]
rs876703	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833053	chr15:74360156-74555140	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv904346	chr15:74458181-74548773	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv904347	chr15:74462629-74537101	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv904348	chr15:74462629-74542686	Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv471253	chr15:74489207-74545148	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv904349	chr15:74500105-74542686	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv904350	chr15:74500105-74548773	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs351175	CELF6	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74526400-74529000	Enhancers	GM12878-XiMat	blood
2	chr15:74526400-74529400	Enhancers	Stomach Mucosa	stomach
3	chr15:74526400-74531600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:74526600-74531000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr15:74526600-74531800	Weak transcription	Fetal Lung	lung
6	chr15:74526600-74532000	Weak transcription	Esophagus	oesophagus
7	chr15:74526800-74531200	Weak transcription	NH-A	brain
8	chr15:74526800-74531400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:74526800-74531600	Weak transcription	Placenta	Placenta
10	chr15:74526800-74531600	Weak transcription	Osteobl	bone
11	chr15:74527000-74529400	Enhancers	Gastric	stomach
12	chr15:74527000-74529800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:74527000-74531000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr15:74527000-74531200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:74527000-74531200	Weak transcription	HSMMtube	muscle
16	chr15:74527000-74531600	Weak transcription	HSMM	muscle
17	chr15:74527000-74531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:74527000-74531800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:74527000-74531800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr15:74527200-74531000	Weak transcription	Fetal Brain Male	brain
21	chr15:74527200-74531400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:74527200-74531400	Weak transcription	Brain Germinal Matrix	brain
23	chr15:74527200-74531400	Weak transcription	Lung	lung
24	chr15:74527200-74531600	Weak transcription	Fetal Brain Female	brain
25	chr15:74527200-74531600	Weak transcription	Spleen	Spleen
26	chr15:74527400-74529000	Enhancers	Primary B cells from peripheral blood	blood
27	chr15:74527400-74529400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:74527400-74531600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:74527400-74531800	Weak transcription	Right Atrium	heart
30	chr15:74527600-74531000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr15:74527600-74531000	Weak transcription	A549	lung
32	chr15:74527600-74531000	Weak transcription	Hela-S3	cervix
33	chr15:74527600-74531200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr15:74528000-74531000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr15:74528400-74529000	Weak transcription	Fetal Kidney	kidney
36	chr15:74528400-74529000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr15:74528400-74529800	Enhancers	Fetal Intestine Small	intestine
38	chr15:74528400-74530400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:74528600-74529000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr15:74528600-74529000	Enhancers	Fetal Intestine Large	intestine
41	chr15:74528600-74529200	Enhancers	Colonic Mucosa	Colon
42	chr15:74528600-74532000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:74528600-74532600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr15:74528600-74536800	Weak transcription	Fetal Thymus	thymus
45	chr15:74528800-74529400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr15:74528800-74532000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:74528800-74532200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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