Variant report

Variant	rs7588248
Chromosome Location	chr2:11588528-11588529
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11586966..11589514-chr2:11592035..11594958,3	K562	blood:
2	chr2:11576851..11579417-chr2:11587308..11589140,2	K562	blood:
3	chr2:11587960..11589661-chr2:11602311..11604128,2	MCF-7	breast:
4	chr2:11584998..11586876-chr2:11587332..11589315,2	K562	blood:
5	chr2:11586759..11588564-chr2:11595256..11597044,2	K562	blood:
6	chr2:11587956..11589833-chr2:11597471..11599189,2	K562	blood:
7	chr2:11587382..11589670-chr2:11589924..11591433,2	MCF-7	breast:
8	chr2:11481635..11483392-chr2:11587515..11589099,2	MCF-7	breast:
9	chr2:11585540..11588575-chr2:11588932..11591157,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269074	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58483074	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73180184	1.00[EUR][1000 genomes]
rs73181956	1.00[EUR][1000 genomes]
rs73181959	1.00[EUR][1000 genomes]
rs73181960	1.00[EUR][1000 genomes]
rs73181962	1.00[EUR][1000 genomes]
rs73181974	1.00[EUR][1000 genomes]
rs73181977	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73181980	1.00[EUR][1000 genomes]
rs73181982	0.81[AFR][1000 genomes];1.00[EUR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv3460094	chr2:11583401-11588699	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a
4	esv3460095	chr2:11583401-11588699	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11572600-11588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:11575800-11597000	Weak transcription	Fetal Heart	heart
3	chr2:11577000-11589200	Weak transcription	Small Intestine	intestine
4	chr2:11577600-11603800	Weak transcription	Colonic Mucosa	Colon
5	chr2:11578600-11594000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:11579000-11604800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:11579200-11594000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:11579800-11590600	Strong transcription	Primary T cells from cord blood	blood
9	chr2:11580000-11593800	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:11580200-11588600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr2:11580200-11604000	Weak transcription	Fetal Brain Male	brain
12	chr2:11580400-11591800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:11580400-11596000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:11580600-11594000	Strong transcription	Placenta	Placenta
15	chr2:11581000-11596400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:11581200-11597000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:11581800-11589400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:11581800-11593600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr2:11581800-11596400	Strong transcription	Liver	Liver
20	chr2:11582600-11589200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:11582600-11594400	Strong transcription	NH-A	brain
22	chr2:11582800-11595600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:11583000-11589600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr2:11583000-11590800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:11583000-11594000	Strong transcription	K562	blood
26	chr2:11583200-11589200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:11583600-11594400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr2:11583800-11594200	Strong transcription	Osteobl	bone
29	chr2:11583800-11596800	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr2:11583800-11597600	Strong transcription	HepG2	liver
31	chr2:11584000-11593400	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:11584200-11589200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:11584200-11593800	Strong transcription	HSMM	muscle
34	chr2:11584200-11596000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:11584200-11597000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:11584400-11593800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr2:11584400-11594200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:11584400-11596400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr2:11584400-11598800	Strong transcription	A549	lung
40	chr2:11584400-11599600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:11585000-11589400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:11585000-11596200	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:11585000-11596800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:11585000-11597600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:11585200-11590800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:11585200-11590800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:11585200-11597200	Strong transcription	Dnd41	blood
48	chr2:11585400-11592400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:11586000-11591800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:11586400-11593800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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