Variant report

Variant	rs4377733
Chromosome Location	chr5:90576580-90576581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:90574749..90579554-chr5:90606387..90610471,6	MCF-7	breast:
2	chr5:90456115..90458497-chr5:90574863..90576609,2	MCF-7	breast:
3	chr5:90574103..90582351-chr5:90673173..90681609,28	K562	blood:
4	chr5:90574805..90578594-chr5:90673900..90681432,13	MCF-7	breast:
5	chr5:90574085..90576843-chr5:90665810..90667901,2	MCF-7	breast:
6	chr5:90575227..90576970-chr5:90607873..90610168,2	K562	blood:
7	chr15:83418877..83419415-chr5:90576252..90577188,2	Hela-S3	cervix:
8	chr5:90576418..90578111-chr5:90608143..90610210,2	K562	blood:
9	chr5:90574048..90576875-chr5:90674905..90680924,9	MCF-7	breast:
10	chr5:90573090..90582351-chr5:90673821..90680716,23	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARRDC3-2	chr5:90575914-90576959	ENSG00000234292
2	lnc-GPR98-6	chr5:90575897-90578519	NONHSAT102741

No data

Variant related genes	Relation type
ENSG00000248323	Chromatin interaction
ENSG00000250988	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000271762	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10038090	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10061355	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10462343	0.99[ASN][1000 genomes]
rs10462492	0.97[ASN][1000 genomes]
rs10474346	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10474347	0.99[ASN][1000 genomes]
rs10805873	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12697807	0.99[ASN][1000 genomes]
rs13171635	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1511344	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1511345	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1543066	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1858309	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2048451	0.96[ASN][1000 genomes]
rs2048452	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2973441	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4019243	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4019302	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4364415	0.96[ASN][1000 genomes]
rs4424024	0.91[ASN][1000 genomes]
rs4518439	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6859170	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6869552	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6882172	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6885341	0.96[ASN][1000 genomes]
rs6888389	0.94[ASN][1000 genomes]
rs6888674	0.94[ASN][1000 genomes]
rs6889197	0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6897578	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6898622	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7709572	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7719516	0.92[ASN][1000 genomes]
rs7724489	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers 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	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90575000-90576600	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr5:90575000-90576800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:90575000-90576800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr5:90575000-90576800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr5:90575000-90576800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr5:90575000-90577000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:90575000-90577000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:90575200-90576600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:90575200-90576600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr5:90575200-90576600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr5:90575200-90576600	Active TSS	Adipose Nuclei	Adipose
12	chr5:90575200-90576600	Active TSS	Colonic Mucosa	Colon
13	chr5:90575200-90576600	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr5:90575200-90576600	Active TSS	Rectal Smooth Muscle	rectum
15	chr5:90575200-90576600	Active TSS	NHEK	skin
16	chr5:90575200-90576800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr5:90575200-90576800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:90575200-90576800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr5:90575200-90576800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:90575200-90576800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:90575200-90576800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:90575200-90576800	Active TSS	Liver	Liver
23	chr5:90575200-90576800	Active TSS	Brain Angular Gyrus	brain
24	chr5:90575200-90576800	Active TSS	Brain Cingulate Gyrus	brain
25	chr5:90575200-90576800	Active TSS	Brain Substantia Nigra	brain
26	chr5:90575200-90576800	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr5:90575200-90576800	Active TSS	Fetal Intestine Large	intestine
28	chr5:90575200-90576800	Active TSS	Fetal Intestine Small	intestine
29	chr5:90575200-90576800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr5:90575200-90576800	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr5:90575200-90576800	Active TSS	Right Ventricle	heart
32	chr5:90575200-90576800	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr5:90575200-90577000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr5:90575200-90577000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:90575200-90577000	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr5:90575200-90577000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:90575200-90577000	Active TSS	Fetal Lung	lung
38	chr5:90575200-90577200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr5:90575200-90577200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:90575200-90577200	Active TSS	Fetal Brain Female	brain
41	chr5:90575200-90577400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:90575200-90577400	Flanking Active TSS	GM12878-XiMat	blood
43	chr5:90575200-90577600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:90575400-90576600	Active TSS	Primary T cells from cord blood	blood
45	chr5:90575400-90576600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr5:90575400-90576600	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr5:90575400-90576600	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr5:90575400-90576600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr5:90575400-90576600	Active TSS	Fetal Heart	heart
50	chr5:90575400-90576800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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