Variant report

Variant	rs6495091
Chromosome Location	chr15:74526596-74526597
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74525463..74526963-chr17:41465876..41467879,2	K562	blood:
2	chr15:74516668..74519200-chr15:74524275..74526738,2	MCF-7	breast:
3	chr15:74519618..74521200-chr15:74525359..74527344,2	K562	blood:

Variant related genes	Relation type
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11632233	0.82[JPT][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap]
rs11639316	0.84[JPT][hapmap]
rs11858661	0.93[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs11858677	0.87[ASN][1000 genomes]
rs12901093	0.97[ASN][1000 genomes]
rs12913651	0.82[JPT][hapmap];0.81[TSI][hapmap]
rs16966903	0.82[CHD][hapmap]
rs2627305	0.86[ASN][1000 genomes]
rs351152	0.86[ASN][1000 genomes]
rs351154	0.87[ASN][1000 genomes]
rs351155	0.87[ASN][1000 genomes]
rs351159	0.95[CEU][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs351160	0.91[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs351170	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs351172	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs351175	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]
rs3843700	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3848164	0.84[ASN][1000 genomes]
rs58029965	0.83[ASN][1000 genomes]
rs61327819	0.87[ASN][1000 genomes]
rs62003670	0.87[ASN][1000 genomes]
rs748608	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs876703	0.87[ASN][1000 genomes]

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	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	nsv904345	chr15:74458181-74526596	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
rs6495091	CELF6	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74521400-74528400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr15:74521600-74526800	Weak transcription	Colonic Mucosa	Colon
3	chr15:74523400-74526800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:74525000-74527600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:74525200-74527000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:74525200-74527000	Weak transcription	Right Atrium	heart
7	chr15:74525200-74527400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:74525400-74526600	Enhancers	Fetal Lung	lung
9	chr15:74525400-74526800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:74525400-74527200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:74525400-74527400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:74525400-74527600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr15:74525400-74528000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr15:74525400-74528600	Enhancers	Fetal Thymus	thymus
15	chr15:74525600-74527000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr15:74525600-74527000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:74525600-74527000	Bivalent Enhancer	Fetal Stomach	stomach
18	chr15:74525600-74527000	Weak transcription	Gastric	stomach
19	chr15:74525600-74527200	Enhancers	Fetal Brain Male	brain
20	chr15:74525600-74527600	Enhancers	A549	lung
21	chr15:74525800-74526800	Enhancers	NH-A	brain
22	chr15:74525800-74526800	Enhancers	Osteobl	bone
23	chr15:74525800-74527200	Enhancers	Fetal Brain Female	brain
24	chr15:74526000-74526600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:74526000-74526800	Enhancers	Hela-S3	cervix
26	chr15:74526200-74526800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr15:74526200-74527000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:74526200-74527000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr15:74526200-74527000	Enhancers	HSMM	muscle
30	chr15:74526200-74527200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:74526200-74527200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
32	chr15:74526200-74527400	Enhancers	Fetal Muscle Leg	muscle
33	chr15:74526400-74526600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:74526400-74526600	Bivalent Enhancer	Placenta	Placenta
35	chr15:74526400-74526600	Weak transcription	HSMMtube	muscle
36	chr15:74526400-74527000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:74526400-74527200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr15:74526400-74528800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr15:74526400-74529000	Enhancers	GM12878-XiMat	blood
40	chr15:74526400-74529400	Enhancers	Stomach Mucosa	stomach
41	chr15:74526400-74531600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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