Variant report

Variant	rs6869048
Chromosome Location	chr5:90664322-90664323
allele	C/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:90527849..90530830-chr5:90663969..90665527,2	K562	blood:
2	chr5:90450199..90451897-chr5:90663061..90665022,2	K562	blood:
3	chr5:90546059..90547829-chr5:90662674..90664478,2	K562	blood:
4	chr5:90576170..90577887-chr5:90662963..90664594,2	K562	blood:
5	chr5:90626594..90630452-chr5:90662107..90665248,4	K562	blood:
6	chr5:90662124..90665003-chr5:90731966..90733840,2	K562	blood:
7	chr5:90637573..90640340-chr5:90662979..90665694,4	K562	blood:
8	chr5:90210175..90212075-chr5:90662640..90664980,2	K562	blood:
9	chr5:90552461..90554626-chr5:90663698..90666654,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234292	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10041402	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10045280	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10052492	0.89[EUR][1000 genomes]
rs10054820	0.90[EUR][1000 genomes]
rs10058025	0.93[EUR][1000 genomes]
rs10059163	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10063683	0.93[EUR][1000 genomes]
rs10073657	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10073935	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1035476	0.89[EUR][1000 genomes]
rs1035477	0.90[EUR][1000 genomes]
rs10474352	0.91[EUR][1000 genomes]
rs10474353	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10942634	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11948056	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11948075	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11950530	0.93[EUR][1000 genomes]
rs11955120	0.89[EUR][1000 genomes]
rs11959525	0.93[EUR][1000 genomes]
rs12110065	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12110303	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12188467	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12651840	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12654787	0.93[EUR][1000 genomes]
rs12655973	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12656350	0.90[EUR][1000 genomes]
rs1363839	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1477348	0.93[EUR][1000 genomes]
rs1477349	0.93[EUR][1000 genomes]
rs186717	0.84[EUR][1000 genomes]
rs1895448	0.91[EUR][1000 genomes]
rs1895449	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1964292	0.88[EUR][1000 genomes]
rs1966494	0.90[EUR][1000 genomes]
rs2004483	0.91[EUR][1000 genomes]
rs2052553	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2059207	0.92[EUR][1000 genomes]
rs2059208	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2367353	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2367526	0.88[EUR][1000 genomes]
rs2839728	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2887007	0.88[EUR][1000 genomes]
rs332544	0.84[EUR][1000 genomes]
rs35712350	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4382199	0.90[EUR][1000 genomes]
rs60513756	0.91[EUR][1000 genomes]
rs6452951	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6452953	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6452954	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66759971	0.89[EUR][1000 genomes]
rs6860948	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6865495	0.91[EUR][1000 genomes]
rs6866191	0.90[EUR][1000 genomes]
rs6866923	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6867091	0.92[EUR][1000 genomes]
rs6869717	0.93[EUR][1000 genomes]
rs6882269	0.93[EUR][1000 genomes]
rs746637	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7705465	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7708782	0.91[EUR][1000 genomes]
rs7715402	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7718871	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7720132	0.89[EUR][1000 genomes]
rs7720235	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs889213	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9293568	0.90[EUR][1000 genomes]
rs9686361	0.90[EUR][1000 genomes]
rs985434	0.90[EUR][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90653400-90666800	Weak transcription	Pancreas	Pancrea
2	chr5:90653400-90670400	Weak transcription	Right Atrium	heart
3	chr5:90653600-90665200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:90653600-90665400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:90653600-90666200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:90653600-90666200	Weak transcription	Psoas Muscle	Psoas
7	chr5:90653600-90666400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:90653600-90666800	Weak transcription	Gastric	stomach
9	chr5:90653600-90669400	Weak transcription	Small Intestine	intestine
10	chr5:90653800-90665800	Weak transcription	HepG2	liver
11	chr5:90654600-90666200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:90654800-90665400	Weak transcription	Stomach Mucosa	stomach
13	chr5:90654800-90665800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:90657800-90664400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:90659000-90669400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:90659800-90666400	Weak transcription	Aorta	Aorta
17	chr5:90660000-90669400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:90660400-90665400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:90661000-90665200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:90661400-90667800	Weak transcription	Colonic Mucosa	Colon
21	chr5:90661600-90665200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr5:90661600-90665400	Weak transcription	NHEK	skin
23	chr5:90661600-90669400	Weak transcription	Esophagus	oesophagus
24	chr5:90662000-90665400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:90662000-90668800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:90662400-90664400	Strong transcription	Fetal Brain Female	brain
27	chr5:90662400-90664600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:90662400-90665000	Strong transcription	Brain Anterior Caudate	brain
29	chr5:90662400-90666200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:90662400-90673000	Strong transcription	Fetal Intestine Large	intestine
31	chr5:90662800-90664400	Strong transcription	Fetal Stomach	stomach
32	chr5:90662800-90668400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:90662800-90672400	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:90663000-90664400	Strong transcription	Brain Angular Gyrus	brain
35	chr5:90663000-90664400	Strong transcription	Fetal Intestine Small	intestine
36	chr5:90663000-90665400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr5:90663000-90666400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:90663000-90667600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:90663000-90668800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:90663000-90670400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:90663000-90671600	Strong transcription	Fetal Muscle Leg	muscle
42	chr5:90663000-90672400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:90663000-90672400	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr5:90663000-90672800	Strong transcription	Adipose Nuclei	Adipose
45	chr5:90663000-90673400	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:90663000-90673600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:90663000-90674200	Strong transcription	NH-A	brain
48	chr5:90663000-90674400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:90663000-90674400	Strong transcription	Placenta	Placenta
50	chr5:90663000-90674400	Strong transcription	Fetal Thymus	thymus

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