Variant report

Variant	rs13027050
Chromosome Location	chr2:74253326-74253327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74247761..74249753-chr2:74252824..74255586,3	K562	blood:
2	chr2:74247122..74249502-chr2:74251565..74254079,2	MCF-7	breast:
3	chr2:74249742..74252123-chr2:74253295..74256040,2	MCF-7	breast:
4	chr2:74245821..74249832-chr2:74253279..74256984,4	MCF-7	breast:
5	chr2:74233005..74244618-chr2:74246652..74253562,14	MCF-7	breast:
6	chr2:74210385..74212800-chr2:74251799..74257002,4	MCF-7	breast:
7	chr2:74250887..74254316-chr2:74256183..74259340,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235499	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13387174	0.80[EUR][1000 genomes]
rs13390332	0.80[EUR][1000 genomes]
rs17009553	0.80[EUR][1000 genomes]
rs34425704	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34493480	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35015888	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35120660	0.91[EUR][1000 genomes]
rs6721042	0.80[EUR][1000 genomes]
rs6745776	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74231600-74273800	Weak transcription	A549	lung
2	chr2:74235000-74258400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:74235000-74259200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:74236400-74259400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:74237400-74259000	Weak transcription	NHLF	lung
6	chr2:74238600-74258400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:74238800-74258200	Weak transcription	Liver	Liver
8	chr2:74238800-74259600	Weak transcription	HMEC	breast
9	chr2:74240000-74276200	Weak transcription	Hela-S3	cervix
10	chr2:74245800-74253400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:74246000-74253400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:74246000-74253400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr2:74246800-74254000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:74247400-74254600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:74248400-74253400	Weak transcription	Colonic Mucosa	Colon
16	chr2:74248400-74258200	Weak transcription	Esophagus	oesophagus
17	chr2:74248600-74254800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:74248600-74256000	Weak transcription	Psoas Muscle	Psoas
19	chr2:74248600-74257800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:74248600-74258200	Weak transcription	Spleen	Spleen
21	chr2:74248600-74259000	Weak transcription	HSMM	muscle
22	chr2:74248800-74253400	Weak transcription	Left Ventricle	heart
23	chr2:74248800-74254000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:74248800-74256200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:74248800-74258400	Weak transcription	Fetal Brain Male	brain
26	chr2:74249000-74253800	Weak transcription	Fetal Lung	lung
27	chr2:74249000-74254000	Weak transcription	Brain Substantia Nigra	brain
28	chr2:74249000-74254600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:74249000-74255000	Weak transcription	Fetal Stomach	stomach
30	chr2:74249000-74256000	Weak transcription	Right Atrium	heart
31	chr2:74249000-74256200	Weak transcription	Brain Angular Gyrus	brain
32	chr2:74249000-74256800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:74250200-74259200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:74250400-74253800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:74250400-74254400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr2:74250600-74253800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:74250600-74254800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:74251200-74253600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:74251200-74254800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr2:74251200-74254800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr2:74251400-74254000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr2:74251600-74253600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr2:74251600-74254400	Enhancers	Primary B cells from cord blood	blood
44	chr2:74251800-74253400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:74251800-74253400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:74251800-74254000	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:74251800-74255200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:74251800-74259200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:74252200-74253600	Enhancers	Primary hematopoietic stem cells	blood
50	chr2:74252400-74253400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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