Variant report

Variant	rs35704054
Chromosome Location	chr5:60676594-60676595
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10514908	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10514909	0.80[ASN][1000 genomes]
rs11738493	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746741	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13158938	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13164700	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13165663	0.84[AMR][1000 genomes]
rs13166779	0.84[AMR][1000 genomes]
rs13168165	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13170519	0.84[AMR][1000 genomes]
rs13174756	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17338553	0.86[AMR][1000 genomes]
rs34027100	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34323293	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34993457	0.80[ASN][1000 genomes]
rs36069847	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55819324	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62368661	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62368664	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7446236	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60653800-60681200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:60654000-60681400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:60658800-60686600	Weak transcription	Fetal Stomach	stomach
4	chr5:60659000-60681600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:60659000-60703800	Weak transcription	Primary B cells from cord blood	blood
6	chr5:60659200-60686600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr5:60659400-60703600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:60659600-60697600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:60660200-60681600	Weak transcription	HSMM	muscle
10	chr5:60661800-60686800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:60662200-60686800	Weak transcription	NHLF	lung
12	chr5:60663200-60686800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:60663400-60677400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:60663400-60690000	Weak transcription	Psoas Muscle	Psoas
15	chr5:60665400-60686800	Weak transcription	Aorta	Aorta
16	chr5:60665600-60681600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:60666800-60676800	Weak transcription	Brain Substantia Nigra	brain
18	chr5:60667600-60681600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:60667800-60689800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:60667800-60689800	Weak transcription	NHEK	skin
21	chr5:60668600-60680800	Weak transcription	Brain Hippocampus Middle	brain
22	chr5:60668600-60681400	Weak transcription	Fetal Intestine Small	intestine
23	chr5:60674600-60677600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr5:60675000-60676600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:60675000-60680800	Weak transcription	Spleen	Spleen
26	chr5:60675000-60681600	Weak transcription	Pancreas	Pancrea
27	chr5:60675000-60686800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:60675200-60676600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:60675200-60680000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:60675400-60692800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:60675600-60681200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:60675800-60677400	Weak transcription	Brain Angular Gyrus	brain
33	chr5:60675800-60677400	Weak transcription	Brain Anterior Caudate	brain
34	chr5:60675800-60681400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:60675800-60681400	Weak transcription	A549	lung
36	chr5:60675800-60692800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:60676000-60677200	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr5:60676400-60677000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr5:60676400-60681200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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