Variant report

Variant	rs7723695
Chromosome Location	chr5:58655212-58655213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:58651518..58653116-chr5:58654954..58657664,2	K562	blood:

Variant related genes	Relation type
ENSG00000113448	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10471469	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10472105	0.82[EUR][1000 genomes]
rs10472106	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12055306	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12697177	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13153653	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13176940	0.84[ASN][1000 genomes]
rs16889615	0.83[EUR][1000 genomes]
rs1823066	0.84[ASN][1000 genomes]
rs1823067	0.94[ASN][1000 genomes]
rs1823068	0.94[ASN][1000 genomes]
rs2059175	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2547919	0.94[ASN][1000 genomes]
rs255812	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2591747	0.91[ASN][1000 genomes]
rs2702365	0.94[ASN][1000 genomes]
rs35288	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs35289	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6450517	0.90[ASN][1000 genomes]
rs6877927	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1030716	chr5:58636116-58718362	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1032732	chr5:58637179-58689010	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1022160	chr5:58645805-58689010	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv881704	chr5:58653383-58675538	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58652200-58656200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr5:58652200-58656600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:58652400-58655800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:58652400-58656400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:58652600-58655800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:58652800-58656400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:58653000-58669400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:58653200-58656000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr5:58653400-58655600	Weak transcription	Psoas Muscle	Psoas
10	chr5:58653600-58655600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr5:58653600-58657800	Enhancers	Fetal Heart	heart
12	chr5:58654000-58657200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr5:58654200-58656000	Weak transcription	Brain Angular Gyrus	brain
14	chr5:58654400-58655600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:58654400-58656200	Enhancers	Colon Smooth Muscle	Colon
16	chr5:58654400-58667000	Weak transcription	Fetal Intestine Large	intestine
17	chr5:58654600-58655600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:58654600-58655600	Weak transcription	Fetal Stomach	stomach
19	chr5:58654600-58655600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr5:58654600-58655800	Weak transcription	Right Atrium	heart
21	chr5:58654600-58656000	Weak transcription	Left Ventricle	heart
22	chr5:58654600-58656000	Enhancers	Rectal Smooth Muscle	rectum
23	chr5:58654600-58656400	Enhancers	Fetal Lung	lung
24	chr5:58654600-58657400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:58654600-58665400	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:58654800-58655800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:58654800-58655800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr5:58654800-58655800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:58654800-58656000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:58654800-58657000	Weak transcription	Gastric	stomach
31	chr5:58654800-58659400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:58654800-58665800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:58655000-58656000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:58655000-58656200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:58655000-58657000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:58655000-58657400	Weak transcription	Stomach Mucosa	stomach
37	chr5:58655000-58659200	Weak transcription	Fetal Intestine Small	intestine
38	chr5:58655000-58659600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:58655200-58655600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:58655200-58655600	Enhancers	A549	lung
41	chr5:58655200-58655800	Weak transcription	Fetal Brain Male	brain
42	chr5:58655200-58656000	Weak transcription	Fetal Kidney	kidney

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