Variant report

Variant	rs34591452
Chromosome Location	chr15:74492585-74492586
allele	G/T
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	CEBPB	chr15:74492570-74493235	MCF-7	breast:	n/a	n/a
2	TFAP2C	chr15:74492581-74495035	Hela-S3	cervix:	n/a	chr15:74493490-74493505 chr15:74492911-74492926
3	CEBPB	chr15:74492569-74494496	Hela-S3	cervix:	n/a	n/a
4	JUND	chr15:74492571-74493267	HCT-116	colon:	n/a	chr15:74492959-74492968 chr15:74492926-74492938 chr15:74492926-74492937 chr15:74492928-74492936
5	RCOR1	chr15:74492582-74494497	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr15:74492534-74493369	HCT-116	colon:	n/a	n/a
7	EP300	chr15:74492553-74493256	A549	lung:	n/a	n/a
8	CEBPB	chr15:74492503-74493246	HCT-116	colon:	n/a	n/a
9	NR2F2	chr15:74492480-74493841	MCF-7	breast:	n/a	n/a
10	RCOR1	chr15:74492521-74493556	IMR90	lung:	n/a	n/a
11	SIN3AK20	chr15:74492465-74494667	MCF-7	breast:	n/a	n/a
12	MAX	chr15:74492512-74493819	A549	lung:	n/a	chr15:74492902-74492911 chr15:74493646-74493656
13	MAX	chr15:74492526-74493591	A549	lung:	n/a	chr15:74492902-74492911
14	TCF12	chr15:74492475-74493872	A549	lung:	n/a	n/a
15	FOSL2	chr15:74492492-74493364	A549	lung:	n/a	chr15:74492959-74492968 chr15:74492926-74492938 chr15:74492928-74492936
16	CEBPB	chr15:74492558-74493198	MCF-7	breast:	n/a	n/a
17	GATA3	chr15:74492508-74493716	A549	lung:	n/a	chr15:74493692-74493702 chr15:74493037-74493045 chr15:74492926-74492935 chr15:74493694-74493701 chr15:74493152-74493161 chr15:74493692-74493701 chr15:74492929-74492938
18	MAX	chr15:74492513-74493733	MCF-7	breast:	n/a	chr15:74492902-74492911 chr15:74493646-74493656
19	CEBPB	chr15:74492570-74493268	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74491398..74493100-chr15:74498606..74500534,2	MCF-7	breast:
2	chr15:74478980..74480513-chr15:74491993..74494403,2	MCF-7	breast:
3	chr15:74483852..74487473-chr15:74489633..74493518,4	K562	blood:
4	chr15:74490081..74492588-chr15:74507681..74510665,2	MCF-7	breast:
5	chr15:74481853..74488513-chr15:74489689..74497281,13	MCF-7	breast:
6	chr15:74209119..74211492-chr15:74491566..74493612,2	MCF-7	breast:
7	chr15:74421502..74423343-chr15:74491775..74494417,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259264	TF binding region
STRA6	TF binding region
ENSG00000137868	Chromatin interaction
ENSG00000167178	Chromatin interaction
ENSG00000140481	Chromatin interaction
ENSG00000259264	Chromatin interaction
ENSG00000248540	Chromatin interaction

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

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

rs_ID	r²[population]
rs11630924	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11631509	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11633687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11639369	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11857410	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12905521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12911581	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12912258	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12915891	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34147822	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34234753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34573746	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35036456	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351242	0.86[EUR][1000 genomes]
rs35255788	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35917667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62003660	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62003661	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72747610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs733163	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs971755	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs971756	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs971757	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74466200-74492800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr15:74469400-74493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:74470800-74492800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:74485400-74493000	Weak transcription	Fetal Thymus	thymus
5	chr15:74485800-74492600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr15:74487600-74492600	Weak transcription	GM12878-XiMat	blood
7	chr15:74487800-74492600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:74488000-74492600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr15:74488000-74492800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr15:74488400-74492600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:74488400-74492800	Weak transcription	Fetal Kidney	kidney
12	chr15:74489200-74492600	Weak transcription	Left Ventricle	heart
13	chr15:74489200-74492600	Weak transcription	Ovary	ovary
14	chr15:74489200-74492600	Weak transcription	Right Ventricle	heart
15	chr15:74489200-74492800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr15:74489200-74509600	Weak transcription	Gastric	stomach
17	chr15:74489400-74492600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:74489400-74492600	Weak transcription	Fetal Lung	lung
19	chr15:74489400-74492600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr15:74489400-74492600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr15:74489400-74492600	Weak transcription	Osteobl	bone
22	chr15:74489400-74492800	Weak transcription	Lung	lung
23	chr15:74489400-74492800	Weak transcription	NHLF	lung
24	chr15:74489400-74499000	Weak transcription	Brain Anterior Caudate	brain
25	chr15:74489600-74492600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:74489600-74492600	Weak transcription	Fetal Muscle Leg	muscle
27	chr15:74489600-74492600	Weak transcription	Spleen	Spleen
28	chr15:74489600-74492600	Weak transcription	NHDF-Ad	bronchial
29	chr15:74489800-74492600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:74489800-74492800	Weak transcription	Fetal Heart	heart
31	chr15:74490000-74492600	Weak transcription	HSMM	muscle
32	chr15:74490000-74492800	Weak transcription	HSMMtube	muscle
33	chr15:74490200-74493800	Weak transcription	Colonic Mucosa	Colon
34	chr15:74490400-74492600	Weak transcription	Right Atrium	heart
35	chr15:74490600-74496200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr15:74490800-74492600	Weak transcription	Adipose Nuclei	Adipose
37	chr15:74490800-74493000	Enhancers	NH-A	brain
38	chr15:74491000-74503200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:74491200-74492800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:74491400-74492600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:74491400-74492600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr15:74491400-74494800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr15:74491600-74492600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr15:74491600-74492600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr15:74491600-74492600	Weak transcription	Fetal Stomach	stomach
46	chr15:74491600-74492600	Weak transcription	HMEC	breast
47	chr15:74491600-74492800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr15:74491600-74494000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr15:74491600-74494000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr15:74491600-74494200	Enhancers	Fetal Intestine Large	intestine

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