Variant report

Variant	rs4244583
Chromosome Location	chr15:41225054-41225055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41223425..41225650-chr15:41313290..41316160,2	MCF-7	breast:
2	chr15:41224445..41227375-chr15:41302953..41304983,2	K562	blood:
3	chr15:41224260..41225943-chr15:41243830..41245889,2	MCF-7	breast:
4	chr15:41195189..41208751-chr15:41218816..41225232,20	MCF-7	breast:
5	chr15:41224639..41226841-chr15:41251663..41253494,2	MCF-7	breast:
6	chr15:41225052..41227814-chr15:41277173..41281104,3	K562	blood:
7	chr15:41194927..41205036-chr15:41218861..41227276,20	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259463	Chromatin interaction
ENSG00000251161	Chromatin interaction
ENSG00000128965	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3212277	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55934240	0.95[EUR][1000 genomes]
rs7180036	1.00[TSI][hapmap]

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	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	esv1819792	chr15:41184722-41234825	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv904106	chr15:41221067-41259523	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41220800-41225600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
2	chr15:41221200-41225200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
3	chr15:41222800-41225400	Active TSS	Psoas Muscle	Psoas
4	chr15:41223400-41225400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:41223400-41225400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
6	chr15:41223400-41225400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr15:41223400-41225600	Enhancers	GM12878-XiMat	blood
8	chr15:41223400-41225800	Enhancers	Primary hematopoietic stem cells	blood
9	chr15:41223400-41226000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:41223600-41225200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
11	chr15:41223600-41225400	Flanking Active TSS	Fetal Intestine Large	intestine
12	chr15:41223600-41225400	Transcr. at gene 5' and 3'	Lung	lung
13	chr15:41223600-41225600	Weak transcription	K562	blood
14	chr15:41223800-41225200	Active TSS	Right Atrium	heart
15	chr15:41223800-41225200	Active TSS	Right Ventricle	heart
16	chr15:41223800-41225400	Flanking Active TSS	Colonic Mucosa	Colon
17	chr15:41223800-41225400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
18	chr15:41224000-41225600	Enhancers	Pancreas	Pancrea
19	chr15:41224000-41226000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr15:41224000-41226000	Active TSS	Left Ventricle	heart
21	chr15:41224200-41225400	Bivalent Enhancer	Fetal Lung	lung
22	chr15:41224200-41226200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr15:41224400-41225600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:41224400-41225800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr15:41224400-41226000	Enhancers	A549	lung
26	chr15:41224400-41226600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:41224400-41231400	Weak transcription	HUVEC	blood vessel
28	chr15:41224600-41225200	Flanking Active TSS	Stomach Mucosa	stomach
29	chr15:41224600-41225400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:41224600-41226200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:41224600-41226800	Weak transcription	Placenta	Placenta
32	chr15:41224800-41225200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr15:41224800-41225200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr15:41224800-41225400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr15:41224800-41225400	Enhancers	Gastric	stomach
36	chr15:41224800-41226000	Enhancers	Thymus	Thymus
37	chr15:41224800-41226000	Flanking Active TSS	HepG2	liver
38	chr15:41224800-41226200	Enhancers	Fetal Thymus	thymus
39	chr15:41224800-41227400	Genic enhancers	Spleen	Spleen
40	chr15:41224800-41229800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:41224800-41230800	Enhancers	Liver	Liver
42	chr15:41225000-41225200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr15:41225000-41225400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:41225000-41226200	Enhancers	Duodenum Mucosa	Duodenum
45	chr15:41225000-41233600	Weak transcription	Esophagus	oesophagus

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