Variant report

Variant	rs12594714
Chromosome Location	chr15:75986284-75986285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75985273..75987777-chr15:76025449..76027210,2	K562	blood:
2	chr15:75986266..75989100-chr15:76049527..76052289,2	MCF-7	breast:
3	chr15:75985353..75988154-chr15:76080946..76082859,2	K562	blood:
4	chr15:75937337..75939364-chr15:75984333..75987165,2	MCF-7	breast:
5	chr15:75659585..75661797-chr15:75985686..75987280,3	K562	blood:
6	chr15:75985843..75987761-chr15:76194772..76196422,2	K562	blood:

Variant related genes	Relation type
ENSG00000260288	Chromatin interaction
ENSG00000260274	Chromatin interaction
ENSG00000140400	Chromatin interaction
ENSG00000167196	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10467951	0.92[CEU][hapmap]
rs10851883	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12908447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2593293	0.93[CEU][hapmap]
rs2675217	0.93[CEU][hapmap]
rs4886456	0.96[CEU][hapmap]
rs4886953	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs749161	0.92[CEU][hapmap]
rs8023610	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8032669	0.96[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
4	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
6	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
7	esv1813854	chr15:75898640-76002392	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	nsv527186	chr15:75924443-76107730	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
9	nsv904391	chr15:75930757-76001654	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv904392	chr15:75930757-76039262	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
11	nsv904393	chr15:75932177-76001654	Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
12	nsv904394	chr15:75948671-76039262	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv904396	chr15:75961518-76071105	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
14	nsv569997	chr15:75965169-75991451	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
15	nsv984092	chr15:75970252-76000687	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75966400-75993200	Weak transcription	Hela-S3	cervix
2	chr15:75969600-75987600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:75984000-75990000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr15:75984000-75993000	Enhancers	Primary B cells from cord blood	blood
5	chr15:75984600-75986600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr15:75984600-75995200	Enhancers	Primary B cells from peripheral blood	blood
7	chr15:75984800-75987400	Enhancers	GM12878-XiMat	blood
8	chr15:75985000-75986800	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr15:75985000-75990600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:75985000-75990800	Genic enhancers	Fetal Muscle Leg	muscle
11	chr15:75985600-75986400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:75985600-75986400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:75985600-75986400	Enhancers	K562	blood
14	chr15:75985600-75986400	Enhancers	NHEK	skin
15	chr15:75985600-75986600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:75985600-75986600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:75985600-75986600	Genic enhancers	Colon Smooth Muscle	Colon
18	chr15:75985600-75986600	Enhancers	Lung	lung
19	chr15:75985600-75986800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:75985600-75987000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:75985600-75987200	Enhancers	Rectal Smooth Muscle	rectum
22	chr15:75985600-75987400	Enhancers	Ovary	ovary
23	chr15:75985600-75987400	Enhancers	NHLF	lung
24	chr15:75985600-75987800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:75985600-75987800	Enhancers	Duodenum Mucosa	Duodenum
26	chr15:75985600-75988200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr15:75985600-75988200	Enhancers	Adipose Nuclei	Adipose
28	chr15:75985600-75988800	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr15:75985600-75988800	Enhancers	HMEC	breast
30	chr15:75985600-75989000	Enhancers	Brain Anterior Caudate	brain
31	chr15:75985600-75990200	Enhancers	Brain Hippocampus Middle	brain
32	chr15:75985600-75991200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:75985600-75991400	Genic enhancers	Fetal Stomach	stomach
34	chr15:75985600-75992600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:75985600-75992800	Enhancers	Right Ventricle	heart
36	chr15:75985800-75986400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:75985800-75986400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr15:75985800-75986400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr15:75985800-75986600	Enhancers	Aorta	Aorta
40	chr15:75985800-75987000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:75985800-75987400	Enhancers	Fetal Brain Male	brain
42	chr15:75985800-75987400	Enhancers	Gastric	stomach
43	chr15:75985800-75987600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr15:75985800-75987800	Enhancers	HUVEC	blood vessel
45	chr15:75985800-75988000	Enhancers	Fetal Brain Female	brain
46	chr15:75985800-75988000	Enhancers	Left Ventricle	heart
47	chr15:75985800-75988000	Enhancers	Right Atrium	heart
48	chr15:75985800-75988200	Enhancers	Fetal Lung	lung
49	chr15:75985800-75988600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr15:75985800-75988600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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