Variant report

Variant	rs2304720
Chromosome Location	chr15:74238734-74238735
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	chr15:74217872-74240199	U87	brain:	n/a	n/a
2	CTCF	chr15:74238660-74238810	GM12865	blood:	n/a	n/a
3	POLR2A	chr15:74215819-74242527	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74217306..74220336-chr15:74236509..74239961,4	MCF-7	breast:

Variant related genes	Relation type
LOXL1	TF binding region
ENSG00000129038	Chromatin interaction
ENSG00000261801	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2304719	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72745367	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9944214	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043335	chr15:74078689-74241186	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking 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	32 gene(s)	inside rSNPs	diseases
4	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74222600-74243200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr15:74228400-74239600	Weak transcription	Pancreas	Pancrea
3	chr15:74228800-74243200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:74229000-74243000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:74229200-74241000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:74230000-74239200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:74231800-74242800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:74232600-74239400	Weak transcription	Brain Anterior Caudate	brain
9	chr15:74232600-74243000	Weak transcription	Brain Hippocampus Middle	brain
10	chr15:74232800-74244000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr15:74233400-74240200	Weak transcription	Colon Smooth Muscle	Colon
12	chr15:74233400-74243000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr15:74233600-74243200	Weak transcription	Colonic Mucosa	Colon
14	chr15:74233800-74243800	Weak transcription	Stomach Mucosa	stomach
15	chr15:74234200-74240000	Enhancers	Fetal Thymus	thymus
16	chr15:74234600-74243200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr15:74234800-74249400	Weak transcription	Primary T cells from cord blood	blood
18	chr15:74235200-74239200	Weak transcription	Right Ventricle	heart
19	chr15:74235200-74239800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr15:74235200-74243400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:74235400-74243400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr15:74235600-74238800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr15:74235600-74238800	Weak transcription	Aorta	Aorta
24	chr15:74236400-74239400	Enhancers	Primary hematopoietic stem cells	blood
25	chr15:74236400-74239400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:74236400-74243000	Weak transcription	Brain Germinal Matrix	brain
27	chr15:74236600-74238800	Weak transcription	Gastric	stomach
28	chr15:74236600-74239200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr15:74236600-74239600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:74236600-74240200	Enhancers	Thymus	Thymus
31	chr15:74236800-74241800	Strong transcription	Osteobl	bone
32	chr15:74237000-74241000	Weak transcription	Left Ventricle	heart
33	chr15:74237000-74242400	Strong transcription	NH-A	brain
34	chr15:74237000-74242600	Strong transcription	NHLF	lung
35	chr15:74237000-74242800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:74237000-74242800	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr15:74237000-74243200	Weak transcription	Right Atrium	heart
38	chr15:74237000-74243400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:74237000-74243800	Weak transcription	Fetal Intestine Large	intestine
40	chr15:74237200-74242200	Strong transcription	NHDF-Ad	bronchial
41	chr15:74237200-74242800	Weak transcription	Esophagus	oesophagus
42	chr15:74237200-74243400	Weak transcription	Brain Substantia Nigra	brain
43	chr15:74237200-74247800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr15:74237400-74241400	Weak transcription	Fetal Intestine Small	intestine
45	chr15:74237400-74242200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:74237400-74242800	Strong transcription	Fetal Lung	lung
47	chr15:74237600-74238800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr15:74237600-74238800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:74237600-74238800	Weak transcription	Fetal Heart	heart
50	chr15:74237600-74239000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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