Variant report

Variant	rs6889967
Chromosome Location	chr5:108085135-108085136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:108060235..108074407-chr5:108078172..108087811,48	K562	blood:
2	chr5:108084910..108087021-chr5:108747518..108750406,2	K562	blood:
3	chr5:107717757..107719316-chr5:108082854..108085189,2	MCF-7	breast:
4	chr5:108062273..108066431-chr5:108081834..108086243,5	MCF-7	breast:
5	chr5:108059312..108068052-chr5:108079113..108087366,42	K562	blood:
6	chr5:108084726..108085489-chr5:108744698..108745617,2	Hela-S3	cervix:
7	chr5:108062575..108065883-chr5:108081229..108085721,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272523	Chromatin interaction
ENSG00000145743	Chromatin interaction
ENSG00000198961	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10038669	0.92[JPT][hapmap]
rs10062204	0.85[JPT][hapmap]
rs10063167	0.92[JPT][hapmap]
rs10073668	0.92[JPT][hapmap]
rs1022045	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1109617	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11240982	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11739006	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12153703	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13173714	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13180513	0.92[JPT][hapmap]
rs1423457	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1472916	0.85[CEU][hapmap]
rs17161476	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2081126	0.93[JPT][hapmap]
rs2081129	0.93[JPT][hapmap]
rs2900035	0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs34660781	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35398495	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957789	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6594333	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6594334	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6594336	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6871143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871239	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6873068	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6874229	0.92[JPT][hapmap]
rs6880284	0.92[JPT][hapmap]
rs6882107	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6889550	0.81[ASN][1000 genomes]
rs6891194	0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs6892439	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6895027	0.93[JPT][hapmap]
rs7700630	0.81[AMR][1000 genomes]
rs7712834	0.93[JPT][hapmap]
rs7716320	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7716485	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7716498	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7735235	0.93[JPT][hapmap]
rs9285863	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9326748	0.92[JPT][hapmap]

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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 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	chr5:108082600-108085200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:108082600-108085400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:108082600-108085800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:108082600-108085800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:108082600-108085800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:108082600-108086000	Active TSS	GM12878-XiMat	blood
7	chr5:108082600-108086200	Active TSS	Right Atrium	heart
8	chr5:108082600-108087000	Active TSS	Stomach Smooth Muscle	stomach
9	chr5:108082800-108085400	Active TSS	Brain Anterior Caudate	brain
10	chr5:108082800-108085400	Active TSS	Osteobl	bone
11	chr5:108082800-108085600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr5:108082800-108085600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr5:108082800-108085600	Active TSS	Ovary	ovary
14	chr5:108082800-108085600	Active TSS	Right Ventricle	heart
15	chr5:108082800-108085800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr5:108082800-108085800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:108082800-108085800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:108082800-108086000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr5:108082800-108086200	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr5:108082800-108086200	Active TSS	NHLF	lung
21	chr5:108082800-108086400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:108082800-108086400	Active TSS	NHDF-Ad	bronchial
23	chr5:108083000-108085200	Active TSS	Fetal Lung	lung
24	chr5:108083000-108085400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:108083000-108085400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr5:108083000-108085400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:108083000-108085400	Active TSS	NH-A	brain
28	chr5:108083000-108085600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr5:108083000-108085600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:108083000-108085800	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr5:108083000-108085800	Active TSS	Colon Smooth Muscle	Colon
32	chr5:108083000-108085800	Active TSS	Fetal Intestine Large	intestine
33	chr5:108083000-108085800	Active TSS	Psoas Muscle	Psoas
34	chr5:108083000-108085800	Active TSS	HSMMtube	muscle
35	chr5:108083000-108086000	Active TSS	NHEK	skin
36	chr5:108083200-108085400	Active TSS	Brain Angular Gyrus	brain
37	chr5:108083200-108085400	Active TSS	Fetal Kidney	kidney
38	chr5:108083200-108085400	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr5:108083200-108085400	Active TSS	K562	blood
40	chr5:108083200-108085600	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr5:108083200-108085600	Active TSS	Fetal Stomach	stomach
42	chr5:108083200-108085800	Active TSS	Fetal Intestine Small	intestine
43	chr5:108083200-108085800	Active TSS	Fetal Muscle Leg	muscle
44	chr5:108083200-108085800	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr5:108083200-108086000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:108083200-108086200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:108083200-108086200	Active TSS	Fetal Brain Female	brain
48	chr5:108083200-108086200	Active TSS	HMEC	breast
49	chr5:108083400-108085200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:108083400-108085200	Active TSS	Colonic Mucosa	Colon

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