Variant report

Variant	rs4699939
Chromosome Location	chr5:58552877-58552878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1445954	0.93[ASW][hapmap];0.83[MKK][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes]
rs16889479	0.90[YRI][hapmap];0.94[AFR][1000 genomes]
rs16889499	0.93[AFR][1000 genomes]
rs1867711	0.90[YRI][hapmap];0.93[AFR][1000 genomes]
rs1867712	0.92[AFR][1000 genomes]
rs6450514	0.85[EUR][1000 genomes]
rs7444432	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv520721	chr5:58520735-58558388	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58537600-58553000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:58541200-58558400	Weak transcription	Pancreas	Pancrea
3	chr5:58541600-58560000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:58541600-58562400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:58541800-58562800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:58544400-58553000	Weak transcription	Left Ventricle	heart
7	chr5:58549000-58553800	Weak transcription	Stomach Mucosa	stomach
8	chr5:58549000-58555200	Weak transcription	Hela-S3	cervix
9	chr5:58549800-58553200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr5:58550400-58553200	Weak transcription	HepG2	liver
11	chr5:58551400-58554200	Enhancers	Fetal Kidney	kidney
12	chr5:58551400-58557600	Enhancers	Rectal Smooth Muscle	rectum
13	chr5:58551600-58553200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr5:58551600-58553600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:58551600-58553600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:58551800-58554200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr5:58551800-58554200	Flanking Active TSS	A549	lung
18	chr5:58552000-58553000	Enhancers	Brain Cingulate Gyrus	brain
19	chr5:58552200-58556800	Weak transcription	Brain Substantia Nigra	brain
20	chr5:58552400-58553000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:58552400-58553200	Weak transcription	Fetal Heart	heart
22	chr5:58552400-58553600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr5:58552400-58553800	Enhancers	Right Atrium	heart
24	chr5:58552400-58554200	Enhancers	Psoas Muscle	Psoas
25	chr5:58552400-58555200	Enhancers	Colon Smooth Muscle	Colon
26	chr5:58552400-58555200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr5:58552400-58558400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:58552600-58556600	Weak transcription	Brain Angular Gyrus	brain
29	chr5:58552600-58560400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:58552800-58553200	Weak transcription	Fetal Lung	lung
31	chr5:58552800-58554200	Enhancers	Fetal Intestine Large	intestine

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