Variant report

Variant	rs11957770
Chromosome Location	chr5:58398243-58398244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11948651	0.87[YRI][hapmap];0.82[AFR][1000 genomes]
rs11955850	0.85[YRI][hapmap]
rs13360359	1.00[EUR][1000 genomes]
rs1439	0.81[JPT][hapmap]
rs16889175	0.85[CHD][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs56658018	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58202935	1.00[EUR][1000 genomes]
rs58830206	1.00[EUR][1000 genomes]
rs60527700	1.00[EUR][1000 genomes]
rs60790143	1.00[EUR][1000 genomes]
rs60900708	1.00[EUR][1000 genomes]
rs61288498	1.00[EUR][1000 genomes]
rs6869400	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6898082	0.88[YRI][hapmap]
rs73093337	1.00[EUR][1000 genomes]
rs73093348	1.00[EUR][1000 genomes]
rs73093351	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7706044	0.87[YRI][hapmap]

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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv522742	chr5:58396248-58399201	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases
4	nsv528391	chr5:58396248-58399201	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58391800-58398800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr5:58392000-58398400	Weak transcription	Left Ventricle	heart
3	chr5:58392000-58400400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:58392000-58400600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:58392400-58399200	Weak transcription	Small Intestine	intestine
6	chr5:58392400-58400400	Weak transcription	Fetal Stomach	stomach
7	chr5:58393400-58398400	Weak transcription	Fetal Heart	heart
8	chr5:58393600-58398400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:58393800-58398600	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:58393800-58398600	Weak transcription	Fetal Lung	lung
11	chr5:58393800-58399200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:58395400-58400400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:58395400-58400600	Weak transcription	NHLF	lung
14	chr5:58395600-58399000	Weak transcription	Fetal Thymus	thymus
15	chr5:58395600-58403600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:58395800-58399000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:58395800-58400600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:58395800-58400600	Weak transcription	NHEK	skin
19	chr5:58395800-58403800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:58396000-58399000	Genic enhancers	A549	lung
21	chr5:58396000-58399600	Weak transcription	Psoas Muscle	Psoas
22	chr5:58396000-58400400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:58396000-58400400	Weak transcription	Osteobl	bone
24	chr5:58396000-58400600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:58396000-58402200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:58396200-58398800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:58396200-58400400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr5:58396200-58400800	Weak transcription	Stomach Mucosa	stomach
29	chr5:58396200-58420000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr5:58396400-58398800	Weak transcription	Fetal Intestine Small	intestine
31	chr5:58396400-58400400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:58396400-58400400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr5:58396400-58400600	Weak transcription	Thymus	Thymus
34	chr5:58396800-58398600	Weak transcription	Primary T cells from cord blood	blood
35	chr5:58396800-58400400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr5:58396800-58400600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:58397000-58400200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:58397200-58403600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:58397400-58398400	Weak transcription	Hela-S3	cervix

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