Variant report

Variant	rs351174
Chromosome Location	chr15:74528508-74528509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr15:74528151-74529048	ECC-1	luminal epithelium:	n/a	n/a
2	TEAD4	chr15:74528300-74528894	ECC-1	luminal epithelium:	n/a	n/a
3	RAD21	chr15:74528220-74528883	ECC-1	luminal epithelium:	n/a	n/a
4	ESR1	chr15:74528379-74528833	ECC-1	luminal epithelium:	n/a	n/a
5	RUNX3	chr15:74528315-74528595	GM12878	blood:	n/a	n/a
6	ELF1	chr15:74528260-74528817	GM12878	blood:	n/a	chr15:74528414-74528425
7	SPI1	chr15:74528279-74528588	GM12891	blood:	n/a	chr15:74528414-74528423 chr15:74528415-74528422 chr15:74528413-74528426
8	USF1	chr15:74528278-74528852	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr15:74528171-74529029	ECC-1	luminal epithelium:	n/a	chr15:74528636-74528647
10	TCF12	chr15:74528177-74529072	ECC-1	luminal epithelium:	n/a	chr15:74528961-74528968 chr15:74528764-74528774 chr15:74528765-74528772
11	SPI1	chr15:74528224-74528652	GM12891	blood:	n/a	chr15:74528414-74528423 chr15:74528415-74528422 chr15:74528413-74528426
12	NFIC	chr15:74528157-74529059	ECC-1	luminal epithelium:	n/a	n/a
13	USF1	chr15:74528306-74528851	ECC-1	luminal epithelium:	n/a	n/a
14	TCF12	chr15:74528173-74529072	ECC-1	luminal epithelium:	n/a	chr15:74528961-74528968 chr15:74528764-74528774 chr15:74528765-74528772
15	EP300	chr15:74528058-74529008	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr15:74528245-74528651	NB4	blood:	n/a	chr15:74528636-74528647
17	NR3C1	chr15:74528329-74528815	ECC-1	luminal epithelium:	n/a	n/a
18	RAD21	chr15:74528338-74528783	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr15:74528247-74528960	ECC-1	luminal epithelium:	n/a	chr15:74528636-74528647
20	SPI1	chr15:74528213-74528579	GM12878	blood:	n/a	chr15:74528414-74528423 chr15:74528415-74528422 chr15:74528413-74528426
21	ESR1	chr15:74528377-74528861	ECC-1	luminal epithelium:	n/a	n/a
22	RUNX3	chr15:74528309-74528582	GM12878	blood:	n/a	n/a
23	TEAD4	chr15:74528145-74528943	ECC-1	luminal epithelium:	n/a	n/a
24	MYC	chr15:74528253-74528664	NB4	blood:	n/a	chr15:74528636-74528647

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STRA6-2	chr15:74528329-74528543	NONHSAT047220

Variant related genes	Relation type
CCDC33	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11629834	0.85[ASN][1000 genomes]
rs11632233	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11633101	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11633321	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11638601	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11639316	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12898529	0.84[ASN][1000 genomes]
rs12904523	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12905224	0.86[ASN][1000 genomes]
rs12905234	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12905362	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12913344	0.86[ASN][1000 genomes]
rs12913651	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1564784	0.83[ASN][1000 genomes]
rs168432	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs189497	0.86[ASN][1000 genomes]
rs351153	0.86[ASN][1000 genomes]
rs351180	0.97[ASN][1000 genomes]
rs351181	0.97[ASN][1000 genomes]
rs3848162	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67882706	0.91[ASN][1000 genomes]
rs901128	0.81[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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74525400-74528600	Enhancers	Fetal Thymus	thymus
2	chr15:74526400-74528800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr15:74526400-74529000	Enhancers	GM12878-XiMat	blood
4	chr15:74526400-74529400	Enhancers	Stomach Mucosa	stomach
5	chr15:74526400-74531600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:74526600-74531000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:74526600-74531800	Weak transcription	Fetal Lung	lung
8	chr15:74526600-74532000	Weak transcription	Esophagus	oesophagus
9	chr15:74526800-74531200	Weak transcription	NH-A	brain
10	chr15:74526800-74531400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:74526800-74531600	Weak transcription	Placenta	Placenta
12	chr15:74526800-74531600	Weak transcription	Osteobl	bone
13	chr15:74527000-74529400	Enhancers	Gastric	stomach
14	chr15:74527000-74529800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:74527000-74531000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr15:74527000-74531200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:74527000-74531200	Weak transcription	HSMMtube	muscle
18	chr15:74527000-74531600	Weak transcription	HSMM	muscle
19	chr15:74527000-74531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:74527000-74531800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:74527000-74531800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:74527200-74531000	Weak transcription	Fetal Brain Male	brain
23	chr15:74527200-74531400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:74527200-74531400	Weak transcription	Brain Germinal Matrix	brain
25	chr15:74527200-74531400	Weak transcription	Lung	lung
26	chr15:74527200-74531600	Weak transcription	Fetal Brain Female	brain
27	chr15:74527200-74531600	Weak transcription	Spleen	Spleen
28	chr15:74527400-74529000	Enhancers	Primary B cells from peripheral blood	blood
29	chr15:74527400-74529400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:74527400-74531600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:74527400-74531800	Weak transcription	Right Atrium	heart
32	chr15:74527600-74531000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr15:74527600-74531000	Weak transcription	A549	lung
34	chr15:74527600-74531000	Weak transcription	Hela-S3	cervix
35	chr15:74527600-74531200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr15:74527800-74528600	Weak transcription	Colonic Mucosa	Colon
37	chr15:74528000-74528800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:74528000-74531000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr15:74528200-74528600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:74528400-74528600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr15:74528400-74529000	Weak transcription	Fetal Kidney	kidney
42	chr15:74528400-74529000	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr15:74528400-74529800	Enhancers	Fetal Intestine Small	intestine
44	chr15:74528400-74530400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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