Variant report

Variant	rs8009516
Chromosome Location	chr14:64103103-64103104
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64098270..64100466-chr14:64102524..64104222,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10083359	1.00[ASN][1000 genomes]
rs10083535	1.00[ASN][1000 genomes]
rs10131964	0.83[ASN][1000 genomes]
rs10133932	0.95[ASN][1000 genomes]
rs10137182	0.83[ASN][1000 genomes]
rs10137805	1.00[ASN][1000 genomes]
rs10137908	0.95[ASN][1000 genomes]
rs10137933	1.00[ASN][1000 genomes]
rs10144567	0.82[ASN][1000 genomes]
rs10144827	0.95[ASN][1000 genomes]
rs10148637	1.00[ASN][1000 genomes]
rs10149710	1.00[ASN][1000 genomes]
rs10149737	1.00[ASN][1000 genomes]
rs10149828	1.00[ASN][1000 genomes]
rs10150009	1.00[ASN][1000 genomes]
rs10162453	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10498509	0.81[ASN][1000 genomes]
rs11158505	0.91[ASN][1000 genomes]
rs17101315	0.83[ASN][1000 genomes]
rs17101326	0.81[ASN][1000 genomes]
rs17101328	0.81[ASN][1000 genomes]
rs2236339	0.83[ASN][1000 genomes]
rs28373566	0.87[ASN][1000 genomes]
rs28575623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28707240	0.95[ASN][1000 genomes]
rs28733391	0.81[ASN][1000 genomes]
rs28778590	0.95[ASN][1000 genomes]
rs28796021	0.95[ASN][1000 genomes]
rs28821865	1.00[ASN][1000 genomes]
rs55659518	0.83[ASN][1000 genomes]
rs58485817	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59672263	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60269901	0.91[ASN][1000 genomes]
rs60327717	0.83[ASN][1000 genomes]
rs61984037	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61984047	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985684	0.95[ASN][1000 genomes]
rs7142943	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7145740	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7148726	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7148824	0.83[ASN][1000 genomes]
rs7156289	0.83[ASN][1000 genomes]
rs7156393	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73263604	0.87[ASN][1000 genomes]
rs73263616	0.95[ASN][1000 genomes]
rs73263627	1.00[ASN][1000 genomes]
rs73280637	0.83[ASN][1000 genomes]
rs73280645	0.83[ASN][1000 genomes]
rs73280662	0.83[ASN][1000 genomes]
rs73280667	0.83[ASN][1000 genomes]
rs73280672	0.83[ASN][1000 genomes]
rs7359072	0.87[ASN][1000 genomes]
rs7359073	0.87[ASN][1000 genomes]
rs74056152	0.83[ASN][1000 genomes]
rs74056153	0.83[ASN][1000 genomes]
rs8007512	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8012130	0.83[ASN][1000 genomes]
rs8020821	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS 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	49 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64062000-64108000	Weak transcription	Spleen	Spleen
2	chr14:64062200-64107600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:64062600-64107000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:64062800-64105400	Weak transcription	Hela-S3	cervix
5	chr14:64066200-64107600	Weak transcription	Pancreas	Pancrea
6	chr14:64066600-64107400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:64066600-64107600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:64066600-64107800	Weak transcription	Fetal Kidney	kidney
9	chr14:64067000-64107400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:64067200-64107800	Weak transcription	HSMMtube	muscle
11	chr14:64068200-64105600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr14:64068200-64107800	Weak transcription	Ovary	ovary
13	chr14:64069000-64107600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:64069200-64107600	Weak transcription	Left Ventricle	heart
15	chr14:64070800-64107600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:64075800-64107400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:64082000-64107200	Weak transcription	HSMM	muscle
18	chr14:64082000-64107800	Weak transcription	Brain Substantia Nigra	brain
19	chr14:64082400-64107600	Weak transcription	NHEK	skin
20	chr14:64082400-64107600	Weak transcription	Osteobl	bone
21	chr14:64082400-64107800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:64083200-64107200	Weak transcription	NHLF	lung
23	chr14:64083600-64104200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:64083800-64106800	Weak transcription	HUVEC	blood vessel
25	chr14:64084200-64103600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:64084400-64107400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr14:64084600-64107600	Weak transcription	Lung	lung
28	chr14:64084600-64107800	Weak transcription	Fetal Heart	heart
29	chr14:64085400-64105600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:64086200-64107400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr14:64088600-64106800	Weak transcription	Fetal Thymus	thymus
32	chr14:64088800-64104000	Weak transcription	Fetal Brain Female	brain
33	chr14:64088800-64105400	Weak transcription	A549	lung
34	chr14:64089800-64107400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:64090200-64105000	Weak transcription	HepG2	liver
36	chr14:64090800-64105400	Weak transcription	Dnd41	blood
37	chr14:64091200-64105600	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:64091200-64107200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:64091200-64107400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:64091800-64107600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:64092400-64107600	Weak transcription	Esophagus	oesophagus
42	chr14:64095600-64107000	Weak transcription	Thymus	Thymus
43	chr14:64096400-64104000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:64096400-64105000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:64096400-64105600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:64096400-64105600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:64096400-64107200	Weak transcription	Primary B cells from cord blood	blood
48	chr14:64096400-64107600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:64096600-64105000	Weak transcription	K562	blood
50	chr14:64099200-64106600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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