Variant report

Variant	rs2591073
Chromosome Location	chr15:57589304-57589305
allele	C/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	POLR2A	chr15:57589299-57589791	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:57589246-57590054	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr15:57589132-57589717	GM12891	blood:	n/a	n/a
4	CTCF	chr15:57589280-57589430	GM12875	blood:	n/a	chr15:57589415-57589424
5	POLR2A	chr15:57588763-57590035	HepG2	liver:	n/a	n/a
6	POLR2A	chr15:57589129-57589561	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:57588203-57590087	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:57582135..57584182-chr15:57589221..57591985,2	K562	blood:
2	chr15:57582041..57585604-chr15:57586782..57591985,5	K562	blood:
3	chr15:57588417..57590307-chr15:57592744..57595404,2	K562	blood:

Variant related genes	Relation type
LINC00926	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2245616	1.00[YRI][hapmap]
rs2252366	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs2544128	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2593245	1.00[YRI][hapmap]
rs2593253	1.00[YRI][hapmap]
rs2615234	1.00[YRI][hapmap]
rs2615239	1.00[YRI][hapmap]
rs2703585	1.00[YRI][hapmap]
rs2703617	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv833021	chr15:57495413-57751366	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS 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 target site	38 gene(s)	inside rSNPs	diseases
3	nsv526342	chr15:57565859-57597280	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57537800-57598200	Weak transcription	Colonic Mucosa	Colon
2	chr15:57566000-57591600	Weak transcription	Esophagus	oesophagus
3	chr15:57568000-57590600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:57568200-57591600	Weak transcription	Psoas Muscle	Psoas
5	chr15:57578600-57591600	Weak transcription	Spleen	Spleen
6	chr15:57578600-57598200	Weak transcription	Right Ventricle	heart
7	chr15:57578800-57592800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:57579200-57589600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr15:57579200-57592800	Weak transcription	Small Intestine	intestine
10	chr15:57579600-57598200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr15:57579800-57590400	Weak transcription	Brain Angular Gyrus	brain
12	chr15:57579800-57595000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:57580000-57598400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr15:57580000-57598400	Weak transcription	Fetal Brain Male	brain
15	chr15:57580000-57598400	Weak transcription	NHEK	skin
16	chr15:57580600-57594800	Weak transcription	HepG2	liver
17	chr15:57581000-57591600	Weak transcription	NHLF	lung
18	chr15:57581200-57591000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:57581400-57590800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr15:57581600-57595000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr15:57581800-57590600	Weak transcription	NH-A	brain
22	chr15:57583200-57591600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr15:57583200-57591800	Weak transcription	Placenta	Placenta
24	chr15:57583400-57589400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:57583400-57590600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr15:57583400-57595000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:57583400-57598400	Weak transcription	Thymus	Thymus
28	chr15:57583600-57589600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr15:57583600-57590400	Weak transcription	Brain Hippocampus Middle	brain
30	chr15:57583600-57590400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr15:57583600-57598000	Weak transcription	Liver	Liver
32	chr15:57583600-57598200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr15:57583600-57598400	Weak transcription	A549	lung
34	chr15:57583800-57590000	Weak transcription	Fetal Kidney	kidney
35	chr15:57583800-57590400	Weak transcription	Fetal Lung	lung
36	chr15:57583800-57591000	Weak transcription	Ovary	ovary
37	chr15:57583800-57595400	Weak transcription	Aorta	Aorta
38	chr15:57583800-57596800	Weak transcription	Fetal Intestine Large	intestine
39	chr15:57584000-57590800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:57584000-57598200	Weak transcription	Brain Germinal Matrix	brain
41	chr15:57584200-57589800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr15:57584200-57589800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:57584200-57591000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr15:57584400-57589400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:57584400-57590600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:57584400-57598000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr15:57584400-57598200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr15:57584600-57591000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:57584600-57591000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:57584600-57591400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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