Variant report

Variant	rs10054005
Chromosome Location	chr5:116069411-116069412
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10041042	0.82[EUR][1000 genomes]
rs10056291	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478305	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1076985	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11241401	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17299416	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2087872	0.82[EUR][1000 genomes]
rs28432235	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763490	chr5:115918339-116138525	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830456	chr5:115969066-116170718	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv527974	chr5:115987168-116303678	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv462403	chr5:115994775-116284378	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv599485	chr5:115994775-116284378	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1030056	chr5:116008971-116278725	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1033140	chr5:116035131-116314673	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116063600-116069600	Weak transcription	Right Ventricle	heart
2	chr5:116065600-116069800	Weak transcription	Left Ventricle	heart
3	chr5:116067600-116069600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:116068000-116069800	Weak transcription	Placenta	Placenta
5	chr5:116068000-116070000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:116068000-116071000	Enhancers	Colon Smooth Muscle	Colon
7	chr5:116068200-116069600	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:116068200-116070600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:116068400-116076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:116068800-116071200	Enhancers	Rectal Smooth Muscle	rectum
11	chr5:116069000-116071200	Enhancers	Fetal Lung	lung
12	chr5:116069200-116070200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:116069200-116071200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:116069400-116069600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr5:116069400-116070000	Enhancers	Stomach Smooth Muscle	stomach
16	chr5:116069400-116070400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:116069400-116070600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:116069400-116070600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:116069400-116070600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:116069400-116070800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:116069400-116070800	Enhancers	Brain Cingulate Gyrus	brain
22	chr5:116069400-116071000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:116069400-116071200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr5:116069400-116071400	Enhancers	Fetal Heart	heart

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