Variant report

Variant	rs59274254
Chromosome Location	chr2:86672566-86672567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86670380..86672664-chr2:86788557..86791421,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115561	Chromatin interaction
ENSG00000228363	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11904506	1.00[AMR][1000 genomes]
rs12105337	1.00[AMR][1000 genomes]
rs56979390	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57978399	1.00[AMR][1000 genomes]
rs58337574	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59206006	1.00[AMR][1000 genomes]
rs6707701	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6758280	1.00[AMR][1000 genomes]
rs72926423	1.00[AMR][1000 genomes]
rs7596624	1.00[AMR][1000 genomes]
rs7596866	1.00[AMR][1000 genomes]
rs7604799	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9967845	1.00[AMR][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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86669800-86678600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:86669800-86679200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:86670000-86672800	Enhancers	Small Intestine	intestine
4	chr2:86670000-86678200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:86670000-86684200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:86670200-86672800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
7	chr2:86670400-86676400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:86670400-86693400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:86670600-86672600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:86670600-86672800	Genic enhancers	Adipose Nuclei	Adipose
11	chr2:86670600-86672800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr2:86670600-86673000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:86670600-86674000	Strong transcription	Placenta	Placenta
14	chr2:86670600-86674200	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr2:86670600-86675200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:86670600-86676400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr2:86670800-86672800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr2:86670800-86674200	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr2:86670800-86675800	Weak transcription	HUVEC	blood vessel
20	chr2:86670800-86676200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:86670800-86676400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:86670800-86676600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:86670800-86677200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:86670800-86678600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:86670800-86681000	Weak transcription	Stomach Mucosa	stomach
26	chr2:86670800-86684200	Weak transcription	Colonic Mucosa	Colon
27	chr2:86671000-86672600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:86671000-86672600	Weak transcription	Fetal Intestine Large	intestine
29	chr2:86671000-86672800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:86671000-86672800	Genic enhancers	Fetal Lung	lung
31	chr2:86671000-86673000	Enhancers	Brain Substantia Nigra	brain
32	chr2:86671000-86673000	Enhancers	Rectal Smooth Muscle	rectum
33	chr2:86671000-86673200	Enhancers	Hela-S3	cervix
34	chr2:86671000-86673400	Enhancers	Brain Hippocampus Middle	brain
35	chr2:86671000-86673600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:86671000-86673800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr2:86671000-86676800	Weak transcription	NH-A	brain
38	chr2:86671000-86676800	Weak transcription	Osteobl	bone
39	chr2:86671000-86677200	Weak transcription	Fetal Kidney	kidney
40	chr2:86671000-86725600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:86671200-86672600	Enhancers	Fetal Heart	heart
42	chr2:86671200-86672800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:86671200-86676400	Weak transcription	NHEK	skin
44	chr2:86671200-86677000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:86671200-86689400	Strong transcription	Primary B cells from cord blood	blood
46	chr2:86671400-86672600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:86671400-86672600	Weak transcription	Liver	Liver
48	chr2:86671400-86672600	Weak transcription	Spleen	Spleen
49	chr2:86671400-86672800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:86671400-86673200	Enhancers	Colon Smooth Muscle	Colon

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