Variant report

Variant	rs253089
Chromosome Location	chr5:75959046-75959047
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75952527..75955158-chr5:75956774..75959814,3	K562	blood:
2	chr5:75952316..75955488-chr5:75956755..75959814,4	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17681908	0.89[AMR][1000 genomes]
rs253093	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs253095	0.83[ASN][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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75882600-75969400	Weak transcription	Stomach Mucosa	stomach
2	chr5:75943800-75986600	Weak transcription	Gastric	stomach
3	chr5:75945200-75976200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr5:75945200-75976400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:75945200-76001000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:75945600-75976600	Strong transcription	Liver	Liver
7	chr5:75945800-75970400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:75946000-75967000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:75946200-75976000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:75946400-76001000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr5:75946600-75975000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:75947000-75970600	Weak transcription	Small Intestine	intestine
13	chr5:75947800-75981800	Strong transcription	Primary T cells from cord blood	blood
14	chr5:75947800-75992000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:75948000-75976200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr5:75948000-75976200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:75948000-75976400	Strong transcription	Placenta	Placenta
18	chr5:75948000-76004600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:75948400-75967000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:75949200-75986600	Weak transcription	GM12878-XiMat	blood
21	chr5:75950600-75969000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:75950800-75999400	Weak transcription	Ovary	ovary
23	chr5:75951800-76001400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:75952800-75975400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:75953000-75968400	Weak transcription	Fetal Intestine Large	intestine
26	chr5:75953000-75975400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:75953400-75960800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:75953400-75986000	Weak transcription	Spleen	Spleen
29	chr5:75954800-75965200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr5:75955000-75980800	Weak transcription	Lung	lung
31	chr5:75955000-75996600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:75955400-75965400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:75955400-75980400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr5:75955600-75970400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:75955800-75965000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr5:75956000-75960200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr5:75956000-75960200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:75956000-75961200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr5:75956000-75963200	Weak transcription	HepG2	liver
40	chr5:75956000-75965000	Weak transcription	Fetal Thymus	thymus
41	chr5:75956000-75965200	Weak transcription	Colonic Mucosa	Colon
42	chr5:75956000-75966400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:75956200-75969800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:75956800-75960400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr5:75956800-75975000	Weak transcription	Adipose Nuclei	Adipose
46	chr5:75956800-75984200	Weak transcription	Fetal Kidney	kidney
47	chr5:75957000-75959400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:75957200-75959200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:75957200-75973000	Weak transcription	Fetal Lung	lung
50	chr5:75957600-75959200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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