Variant report

Variant	rs991076
Chromosome Location	chr15:34590471-34590472
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:34590151..34592277-chr15:34605995..34607909,2	K562	blood:

Variant related genes	Relation type
ENSG00000207091	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10519916	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11630291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11638909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3794517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3794518	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7177365	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74010034	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs74010036	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs74010045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74010046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74010055	0.83[AFR][1000 genomes]
rs74010057	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs74010058	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8028501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1045173	chr15:34501055-34596995	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv1798578	chr15:34543021-34988247	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv1804312	chr15:34543021-34988247	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv1821622	chr15:34543021-34988247	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv1850950	chr15:34543021-34988247	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	esv2758376	chr15:34543021-34988247	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	esv2760024	chr15:34543021-34988247	Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	nsv428303	chr15:34543021-34988247	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv1036475	chr15:34552879-34841587	Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv542342	chr15:34552879-34841587	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv1048550	chr15:34553078-34841447	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
14	nsv542343	chr15:34553078-34841447	Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
15	nsv471682	chr15:34560451-34882630	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
16	nsv1051403	chr15:34573065-34600474	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv819906	chr15:34585431-34597560	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34547600-34591200	Weak transcription	Aorta	Aorta
2	chr15:34548200-34592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:34551200-34608800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr15:34555200-34606600	Weak transcription	Thymus	Thymus
5	chr15:34577600-34590800	Weak transcription	Primary T cells from cord blood	blood
6	chr15:34577600-34608800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr15:34577600-34610200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr15:34577800-34593200	Weak transcription	HepG2	liver
9	chr15:34577800-34608800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr15:34578200-34606800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr15:34579000-34603800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr15:34582200-34599000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:34582600-34609600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr15:34582600-34610200	Weak transcription	Fetal Lung	lung
15	chr15:34583400-34609600	Weak transcription	Adipose Nuclei	Adipose
16	chr15:34583600-34593600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:34583800-34610600	Weak transcription	Pancreas	Pancrea
18	chr15:34585000-34609600	Weak transcription	Spleen	Spleen
19	chr15:34585000-34610600	Weak transcription	Lung	lung
20	chr15:34585200-34596400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr15:34585200-34598600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:34585200-34609600	Weak transcription	Fetal Stomach	stomach
23	chr15:34585200-34615600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:34585400-34602200	Weak transcription	Esophagus	oesophagus
25	chr15:34585400-34608600	Weak transcription	Liver	Liver
26	chr15:34585800-34604600	Weak transcription	Fetal Intestine Large	intestine
27	chr15:34585800-34610400	Weak transcription	Ovary	ovary
28	chr15:34586400-34592800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:34586600-34609800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr15:34587000-34610200	Weak transcription	Fetal Intestine Small	intestine
31	chr15:34587400-34592000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr15:34587800-34591600	Weak transcription	Primary B cells from cord blood	blood
33	chr15:34587800-34593600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr15:34587800-34604400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr15:34588400-34591800	Enhancers	Fetal Heart	heart
36	chr15:34588800-34591000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:34588800-34592000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr15:34589200-34591600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr15:34589800-34593600	Weak transcription	Stomach Mucosa	stomach
40	chr15:34589800-34597200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:34589800-34600400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr15:34589800-34610600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr15:34590000-34590800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr15:34590000-34590800	Enhancers	GM12878-XiMat	blood
45	chr15:34590000-34591000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr15:34590000-34598400	Weak transcription	Left Ventricle	heart
47	chr15:34590000-34609000	Weak transcription	Colon Smooth Muscle	Colon
48	chr15:34590000-34610400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr15:34590000-34610600	Weak transcription	Small Intestine	intestine
50	chr15:34590200-34591200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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