Variant report

Variant	rs12520918
Chromosome Location	chr5:16778598-16778599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10051929	0.83[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10053767	0.84[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10072648	0.83[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10475088	0.84[CEU][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs11133859	0.84[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11133860	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs12520877	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34387749	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34833986	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62369287	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62369288	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6554945	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880373	chr5:16710572-16785604	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3529928	chr5:16748426-16856563	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv3529929	chr5:16748426-16856563	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1030550	chr5:16748966-16872084	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16736400-16781400	Weak transcription	Esophagus	oesophagus
2	chr5:16737000-16780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:16741200-16782000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:16748600-16783800	Weak transcription	Small Intestine	intestine
5	chr5:16755200-16795400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:16757600-16796800	Weak transcription	Right Ventricle	heart
7	chr5:16758400-16779200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:16759800-16783600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:16760000-16791400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:16761000-16796600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:16762400-16784000	Weak transcription	Colonic Mucosa	Colon
12	chr5:16763200-16782200	Weak transcription	Fetal Brain Male	brain
13	chr5:16763800-16794600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:16764200-16784000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:16764600-16783800	Weak transcription	Spleen	Spleen
16	chr5:16764600-16792800	Weak transcription	Stomach Mucosa	stomach
17	chr5:16764600-16807400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:16766800-16785200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:16767200-16781800	Weak transcription	Ovary	ovary
20	chr5:16768600-16781800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:16769200-16781800	Weak transcription	Lung	lung
22	chr5:16770200-16791400	Weak transcription	Fetal Kidney	kidney
23	chr5:16770800-16792400	Weak transcription	Placenta	Placenta
24	chr5:16770800-16793800	Weak transcription	Hela-S3	cervix
25	chr5:16771000-16779200	Weak transcription	Pancreas	Pancrea
26	chr5:16771000-16781600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:16773200-16781800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:16774200-16779000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:16774400-16778800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:16774400-16779000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:16774400-16779200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:16774400-16779200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:16775200-16784400	Weak transcription	Psoas Muscle	Psoas
34	chr5:16775200-16796800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:16775400-16779200	Weak transcription	NHDF-Ad	bronchial
36	chr5:16775800-16778600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:16776200-16785400	Strong transcription	HUVEC	blood vessel
38	chr5:16776800-16778600	Strong transcription	NHLF	lung
39	chr5:16776800-16779400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr5:16776800-16779400	Strong transcription	Fetal Stomach	stomach
41	chr5:16776800-16782200	Strong transcription	HSMM	muscle
42	chr5:16776800-16784800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr5:16777000-16783400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:16777000-16783800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr5:16777200-16780400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr5:16777200-16780800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:16777200-16782800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:16777200-16785600	Strong transcription	Fetal Intestine Small	intestine
49	chr5:16777400-16778600	Genic enhancers	A549	lung
50	chr5:16777400-16778800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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