Variant report

Variant	rs12591534
Chromosome Location	chr15:55569175-55569176
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55527813..55534361-chr15:55567580..55576356,11	K562	blood:
2	chr15:55563023..55565322-chr15:55568988..55571105,2	K562	blood:
3	chr15:55561094..55566521-chr15:55568415..55573489,7	K562	blood:

Variant related genes	Relation type
ENSG00000069974	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1007912	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12594039	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12595122	0.82[ASN][1000 genomes]
rs12595316	0.98[ASN][1000 genomes]
rs16976260	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs16976296	1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs16976298	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs2289323	1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs2290981	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2414410	0.82[ASN][1000 genomes]
rs28659952	0.89[ASN][1000 genomes]
rs28806626	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899585	0.89[ASN][1000 genomes]
rs3759864	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs55741428	0.89[ASN][1000 genomes]
rs56815391	0.92[ASN][1000 genomes]
rs58020927	0.94[ASN][1000 genomes]
rs61176773	0.92[ASN][1000 genomes]
rs7182524	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs73415532	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv1036924	chr15:55527874-55616480	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats 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	36 gene(s)	inside rSNPs	diseases
6	nsv569522	chr15:55532211-55611126	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv904241	chr15:55534342-55611126	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1036173	chr15:55547689-55812194	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv542391	chr15:55547689-55812194	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv904242	chr15:55550755-55611126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv569523	chr15:55555602-55836704	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats 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	36 gene(s)	inside rSNPs	diseases
12	nsv569524	chr15:55558624-55612511	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv1040917	chr15:55562940-55943942	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55520800-55574800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:55542400-55581000	Weak transcription	Fetal Intestine Small	intestine
3	chr15:55547800-55571400	Weak transcription	Aorta	Aorta
4	chr15:55548600-55574800	Weak transcription	Left Ventricle	heart
5	chr15:55549200-55571600	Weak transcription	HMEC	breast
6	chr15:55550000-55571400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr15:55553200-55581000	Weak transcription	Fetal Intestine Large	intestine
8	chr15:55559800-55569400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:55559800-55571200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr15:55560200-55569800	Weak transcription	Hela-S3	cervix
11	chr15:55560200-55571200	Weak transcription	NHDF-Ad	bronchial
12	chr15:55560200-55574800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:55560200-55575400	Weak transcription	Thymus	Thymus
14	chr15:55560400-55571800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:55560600-55569600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr15:55560600-55569600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:55560800-55569400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:55561400-55571400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:55561400-55571400	Weak transcription	Pancreas	Pancrea
20	chr15:55561600-55576600	Weak transcription	Liver	Liver
21	chr15:55562400-55569600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr15:55562800-55569400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr15:55563200-55571400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:55563800-55574800	Weak transcription	Lung	lung
25	chr15:55564000-55571000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:55564200-55571400	Weak transcription	Stomach Mucosa	stomach
27	chr15:55565000-55574800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr15:55565800-55569200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr15:55566000-55569400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr15:55566000-55569600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr15:55566600-55569600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr15:55567200-55572800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr15:55567400-55569400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr15:55567400-55570800	Enhancers	Primary B cells from cord blood	blood
35	chr15:55567400-55571800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr15:55567600-55569600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr15:55567600-55569600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr15:55567600-55569600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr15:55567600-55572600	Enhancers	Primary B cells from peripheral blood	blood
40	chr15:55567800-55569400	Weak transcription	Gastric	stomach
41	chr15:55567800-55569600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr15:55567800-55572600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:55567800-55580800	Weak transcription	Fetal Stomach	stomach
44	chr15:55568200-55569200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr15:55568200-55569600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr15:55568400-55570400	Flanking Active TSS	GM12878-XiMat	blood
47	chr15:55568400-55574800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:55568600-55570400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:55568600-55570600	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr15:55568600-55572600	Enhancers	Primary hematopoietic stem cells	blood

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