Variant report

Variant	rs62373347
Chromosome Location	chr5:112400558-112400559
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10038215	1.00[ASN][1000 genomes]
rs10041206	1.00[ASN][1000 genomes]
rs10060897	1.00[ASN][1000 genomes]
rs10074230	1.00[ASN][1000 genomes]
rs10076739	1.00[ASN][1000 genomes]
rs10078365	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13356288	1.00[ASN][1000 genomes]
rs28513913	1.00[ASN][1000 genomes]
rs28561975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28627135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56783601	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58202991	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374681	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894919	1.00[ASN][1000 genomes]
rs7701630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7708596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734300	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326876	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv15902	chr5:112369563-112410775	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599395	chr5:112370311-112428869	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1018344	chr5:112390951-112458853	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1032798	chr5:112392380-112408177	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
2	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:112370200-112406600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:112375000-112402600	Weak transcription	Pancreas	Pancrea
6	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
7	chr5:112383200-112409400	Strong transcription	Liver	Liver
8	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:112384200-112411000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:112388800-112402400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:112390600-112402400	Weak transcription	Spleen	Spleen
12	chr5:112390800-112410800	Weak transcription	Fetal Intestine Small	intestine
13	chr5:112391600-112439000	Weak transcription	Gastric	stomach
14	chr5:112394800-112400800	Strong transcription	Esophagus	oesophagus
15	chr5:112395000-112411600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:112395600-112401400	Weak transcription	Lung	lung
17	chr5:112395600-112402400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:112395600-112403400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:112395600-112403600	Weak transcription	Fetal Brain Male	brain
20	chr5:112395600-112417600	Weak transcription	Brain Angular Gyrus	brain
21	chr5:112395600-112420400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:112395800-112402600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:112395800-112408600	Weak transcription	Brain Anterior Caudate	brain
24	chr5:112395800-112409000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:112396000-112417200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:112396200-112402600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr5:112396600-112400600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:112396800-112404600	Genic enhancers	Fetal Stomach	stomach
29	chr5:112397200-112402200	Weak transcription	Fetal Intestine Large	intestine
30	chr5:112397400-112400800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:112397400-112405000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr5:112397800-112403800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:112398200-112401200	Strong transcription	Adipose Nuclei	Adipose
34	chr5:112398400-112400600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:112398400-112400800	Strong transcription	Fetal Lung	lung
36	chr5:112398400-112401200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:112398400-112401200	Genic enhancers	Fetal Muscle Leg	muscle
38	chr5:112398400-112403400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr5:112398400-112404600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:112398400-112407400	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:112398600-112407000	Strong transcription	NHEK	skin
42	chr5:112398600-112409800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:112398800-112402600	Enhancers	Primary T cells from cord blood	blood
44	chr5:112398800-112402800	Weak transcription	NHLF	lung
45	chr5:112398800-112412400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:112399000-112400800	Strong transcription	Aorta	Aorta
47	chr5:112399000-112401000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:112399000-112404600	Weak transcription	Fetal Heart	heart
49	chr5:112399000-112405200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:112399000-112406000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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