Variant report

Variant	rs27670
Chromosome Location	chr5:58554275-58554276
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs153985	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs181915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs255557	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs255633	0.87[YRI][hapmap]
rs256750	0.87[YRI][hapmap]
rs256752	0.88[YRI][hapmap]
rs26689	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs26694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs26700	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs26703	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs26710	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs26713	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs26714	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs26715	0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs27549	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs27695	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs27773	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs27957	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs28055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35304	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35308	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35309	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs35310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs40444	0.86[YRI][hapmap]
rs455969	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs466742	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]

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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58541200-58558400	Weak transcription	Pancreas	Pancrea
2	chr5:58541600-58560000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:58541600-58562400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:58541800-58562800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:58549000-58555200	Weak transcription	Hela-S3	cervix
6	chr5:58551400-58557600	Enhancers	Rectal Smooth Muscle	rectum
7	chr5:58552200-58556800	Weak transcription	Brain Substantia Nigra	brain
8	chr5:58552400-58555200	Enhancers	Colon Smooth Muscle	Colon
9	chr5:58552400-58555200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr5:58552400-58558400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:58552600-58556600	Weak transcription	Brain Angular Gyrus	brain
12	chr5:58552600-58560400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:58553000-58554400	Enhancers	HSMMtube	muscle
14	chr5:58553200-58554400	Enhancers	Fetal Heart	heart
15	chr5:58553200-58554400	Enhancers	HepG2	liver
16	chr5:58553200-58555000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:58553400-58560000	Weak transcription	Fetal Lung	lung
18	chr5:58553600-58554400	Enhancers	Small Intestine	intestine
19	chr5:58553600-58556600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:58553800-58558400	Weak transcription	Left Ventricle	heart
21	chr5:58553800-58558400	Weak transcription	Right Atrium	heart
22	chr5:58553800-58568600	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:58554200-58554800	Active TSS	A549	lung
24	chr5:58554200-58555200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:58554200-58556800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:58554200-58556800	Weak transcription	Fetal Intestine Large	intestine
27	chr5:58554200-58556800	Weak transcription	Fetal Intestine Small	intestine
28	chr5:58554200-58556800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:58554200-58557000	Weak transcription	Fetal Kidney	kidney
30	chr5:58554200-58558400	Weak transcription	Psoas Muscle	Psoas
31	chr5:58554200-58559600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:58554200-58561000	Weak transcription	Stomach Mucosa	stomach
33	chr5:58554200-58562600	Weak transcription	Duodenum Mucosa	Duodenum

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