Variant report

Variant	rs8006901
Chromosome Location	chr14:64194459-64194460
allele	A/C
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64194396..64194906-chr5:89770388..89770906,2	Hela-S3	cervix:
2	chr14:64106473..64110986-chr14:64192827..64196811,8	MCF-7	breast:
3	chr14:64194294..64194896-chr2:20646784..20647401,2	Hela-S3	cervix:
4	chr14:64194322..64194886-chr19:8386255..8386780,2	Hela-S3	cervix:
5	chr14:64194372..64195002-chr9:131709957..131710879,2	Hela-S3	cervix:
6	chr14:64194263..64194809-chr15:45002991..45003541,2	Hela-S3	cervix:
7	chr14:64194232..64194886-chr19:41724694..41725687,2	Hela-S3	cervix:
8	chr14:64107471..64110502-chr14:64193160..64196090,4	K562	blood:
9	chr14:64107471..64110764-chr14:64193160..64196213,5	K562	blood:
10	chr12:108079541..108080265-chr14:64194319..64195278,2	Hela-S3	cervix:
11	chr14:64106726..64110547-chr14:64191903..64196286,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167774	Chromatin interaction
ENSG00000140006	Chromatin interaction
ENSG00000167601	Chromatin interaction
ENSG00000229474	Chromatin interaction
ENSG00000113356	Chromatin interaction
ENSG00000176055	Chromatin interaction
ENSG00000267855	Chromatin interaction
ENSG00000233927	Chromatin interaction
ENSG00000136045	Chromatin interaction
ENSG00000095319	Chromatin interaction
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10498511	0.91[EUR][1000 genomes]
rs11158502	0.92[EUR][1000 genomes]
rs11158503	1.00[EUR][1000 genomes]
rs11158504	0.96[EUR][1000 genomes]
rs11158506	1.00[EUR][1000 genomes]
rs11844499	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11845405	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11845471	0.96[EUR][1000 genomes]
rs11845514	0.82[EUR][1000 genomes]
rs11845765	0.96[EUR][1000 genomes]
rs11846081	0.91[EUR][1000 genomes]
rs11847188	0.91[EUR][1000 genomes]
rs11847332	0.91[EUR][1000 genomes]
rs11849082	0.96[EUR][1000 genomes]
rs12147926	0.87[EUR][1000 genomes]
rs17101346	0.91[EUR][1000 genomes]
rs17101348	0.91[EUR][1000 genomes]
rs17101355	0.91[EUR][1000 genomes]
rs17101371	0.91[EUR][1000 genomes]
rs17101374	1.00[EUR][1000 genomes]
rs2031941	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3742622	0.91[EUR][1000 genomes]
rs4346121	1.00[EUR][1000 genomes]
rs55665448	0.91[EUR][1000 genomes]
rs55706628	0.91[EUR][1000 genomes]
rs55758170	0.82[EUR][1000 genomes]
rs55763522	0.87[EUR][1000 genomes]
rs55797516	0.91[EUR][1000 genomes]
rs55874427	0.91[EUR][1000 genomes]
rs55919053	0.96[EUR][1000 genomes]
rs56015314	0.91[EUR][1000 genomes]
rs56021364	0.82[EUR][1000 genomes]
rs56051693	0.96[EUR][1000 genomes]
rs56060943	0.82[EUR][1000 genomes]
rs56094435	0.91[EUR][1000 genomes]
rs56105514	0.96[EUR][1000 genomes]
rs56113838	0.91[EUR][1000 genomes]
rs56169803	0.82[EUR][1000 genomes]
rs56247501	0.91[EUR][1000 genomes]
rs56280069	0.96[EUR][1000 genomes]
rs56301550	0.82[EUR][1000 genomes]
rs56342043	0.91[EUR][1000 genomes]
rs56388534	0.96[EUR][1000 genomes]
rs56858295	0.91[EUR][1000 genomes]
rs56973820	0.91[EUR][1000 genomes]
rs61692440	0.87[EUR][1000 genomes]
rs61984031	0.82[EUR][1000 genomes]
rs61984033	0.82[EUR][1000 genomes]
rs61984036	0.82[EUR][1000 genomes]
rs61984045	0.82[EUR][1000 genomes]
rs61984046	0.82[EUR][1000 genomes]
rs61984048	0.82[EUR][1000 genomes]
rs61984051	0.87[EUR][1000 genomes]
rs61984055	0.82[EUR][1000 genomes]
rs61985669	0.91[EUR][1000 genomes]
rs61985670	0.91[EUR][1000 genomes]
rs61985671	0.91[EUR][1000 genomes]
rs61985672	0.91[EUR][1000 genomes]
rs61985674	0.87[EUR][1000 genomes]
rs61985677	0.91[EUR][1000 genomes]
rs61985680	0.91[EUR][1000 genomes]
rs61985681	0.91[EUR][1000 genomes]
rs61985682	0.91[EUR][1000 genomes]
rs61985687	0.91[EUR][1000 genomes]
rs61985689	0.91[EUR][1000 genomes]
rs61985690	0.91[EUR][1000 genomes]
rs61985691	0.82[EUR][1000 genomes]
rs6573528	0.91[EUR][1000 genomes]
rs6573529	0.91[EUR][1000 genomes]
rs7141460	0.91[EUR][1000 genomes]
rs7142737	0.91[EUR][1000 genomes]
rs7148755	0.91[EUR][1000 genomes]
rs7149625	0.91[EUR][1000 genomes]
rs7154718	0.91[EUR][1000 genomes]
rs7154883	0.91[EUR][1000 genomes]
rs7155351	0.91[EUR][1000 genomes]
rs7156219	1.00[EUR][1000 genomes]
rs7156468	0.91[EUR][1000 genomes]
rs7157815	1.00[EUR][1000 genomes]
rs73263634	0.91[EUR][1000 genomes]
rs73263671	0.91[EUR][1000 genomes]
rs73263676	0.87[EUR][1000 genomes]
rs73265705	0.91[EUR][1000 genomes]
rs73265719	0.96[EUR][1000 genomes]
rs73265743	0.96[EUR][1000 genomes]
rs73267621	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73267644	0.82[EUR][1000 genomes]
rs8003077	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8003101	0.91[EUR][1000 genomes]
rs8003314	0.91[EUR][1000 genomes]
rs8010642	0.91[EUR][1000 genomes]
rs8013242	0.91[EUR][1000 genomes]
rs8017282	0.87[EUR][1000 genomes]
rs8017835	0.91[EUR][1000 genomes]
rs8018034	0.82[EUR][1000 genomes]
rs8018194	0.87[EUR][1000 genomes]
rs8018382	0.91[EUR][1000 genomes]
rs8018872	0.91[EUR][1000 genomes]
rs8019280	0.91[EUR][1000 genomes]
rs8020831	0.82[EUR][1000 genomes]
rs8020833	0.91[EUR][1000 genomes]
rs8020893	0.91[EUR][1000 genomes]
rs9671362	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1048645	chr14:64057327-64283872	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1037824	chr14:64119493-64254025	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1044325	chr14:64142976-64201537	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	21 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	chr14:64191200-64195000	Active TSS	GM12878-XiMat	blood
2	chr14:64191200-64195200	Active TSS	Hela-S3	cervix
3	chr14:64192000-64195200	Active TSS	Rectal Smooth Muscle	rectum
4	chr14:64192200-64195000	Active TSS	Placenta	Placenta
5	chr14:64192200-64195200	Active TSS	NHDF-Ad	bronchial
6	chr14:64192200-64195200	Active TSS	NHLF	lung
7	chr14:64192200-64195600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr14:64192400-64194600	Active TSS	Fetal Stomach	stomach
9	chr14:64192400-64195000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:64192400-64195000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:64192400-64195000	Active TSS	Thymus	Thymus
12	chr14:64192400-64195200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:64192400-64195200	Active TSS	Aorta	Aorta
14	chr14:64192400-64195200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr14:64192400-64195200	Active TSS	Ovary	ovary
16	chr14:64192400-64195400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:64192400-64195400	Active TSS	Brain Angular Gyrus	brain
18	chr14:64192400-64195400	Active TSS	Right Atrium	heart
19	chr14:64192600-64195000	Active TSS	Colonic Mucosa	Colon
20	chr14:64192600-64195000	Active TSS	Stomach Smooth Muscle	stomach
21	chr14:64192600-64195200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:64192600-64195200	Active TSS	Brain Anterior Caudate	brain
23	chr14:64192600-64195200	Active TSS	Brain Cingulate Gyrus	brain
24	chr14:64192600-64195200	Active TSS	Brain Hippocampus Middle	brain
25	chr14:64192600-64195200	Active TSS	Psoas Muscle	Psoas
26	chr14:64192600-64195400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr14:64192600-64195400	Active TSS	HSMM	muscle
28	chr14:64192600-64195400	Active TSS	HSMMtube	muscle
29	chr14:64192600-64195600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr14:64192800-64194600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:64192800-64195000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr14:64192800-64195000	Active TSS	Fetal Muscle Leg	muscle
33	chr14:64192800-64195000	Active TSS	NHEK	skin
34	chr14:64192800-64195200	Active TSS	Right Ventricle	heart
35	chr14:64192800-64195200	Active TSS	Osteobl	bone
36	chr14:64192800-64195400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:64192800-64195400	Active TSS	K562	blood
38	chr14:64192800-64195600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:64193000-64195000	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr14:64193000-64195000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:64193000-64195000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr14:64193000-64195000	Active TSS	Muscle Satellite Cultured Cells	--
43	chr14:64193000-64195000	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr14:64193000-64195000	Active TSS	HMEC	breast
45	chr14:64193000-64195200	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr14:64193000-64195200	Active TSS	Liver	Liver
47	chr14:64193000-64195200	Active TSS	A549	lung
48	chr14:64193000-64195400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:64193000-64195600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:64193200-64195000	Active TSS	Primary hematopoietic stem cells short term culture	blood

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