Variant report

Variant	rs10070138
Chromosome Location	chr5:58403872-58403873
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10055884	0.87[YRI][hapmap];0.83[AMR][1000 genomes]
rs10058672	0.81[YRI][hapmap]
rs13358738	1.00[MEX][hapmap]
rs13362115	1.00[MEX][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6872107	0.88[YRI][hapmap]
rs6890598	0.81[YRI][hapmap]
rs7713369	1.00[YRI][hapmap];0.84[AFR][1000 genomes];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	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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58396200-58420000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:58399400-58419400	Weak transcription	Fetal Intestine Small	intestine
3	chr5:58399600-58405000	Weak transcription	Adipose Nuclei	Adipose
4	chr5:58400800-58412200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:58401000-58405400	Weak transcription	Left Ventricle	heart
6	chr5:58401000-58405800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:58401000-58407800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:58401000-58408000	Weak transcription	Fetal Brain Female	brain
9	chr5:58401000-58412200	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:58401000-58412400	Weak transcription	Right Atrium	heart
11	chr5:58401000-58413200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:58401000-58418600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:58401200-58405400	Weak transcription	Fetal Heart	heart
14	chr5:58401400-58405400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:58401400-58411400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:58401800-58410600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:58402400-58404000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:58402800-58404000	Transcr. at gene 5' and 3'	A549	lung
19	chr5:58402800-58404200	Enhancers	Colon Smooth Muscle	Colon
20	chr5:58403000-58404000	Enhancers	Psoas Muscle	Psoas
21	chr5:58403200-58404200	Genic enhancers	Hela-S3	cervix
22	chr5:58403400-58404000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:58403600-58404000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:58403600-58404000	Enhancers	Pancreas	Pancrea
25	chr5:58403600-58404000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr5:58403600-58412000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:58403800-58404000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:58403800-58404000	Enhancers	Esophagus	oesophagus

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