Variant report

Variant	rs10483639
Chromosome Location	chr14:55306457-55306458
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55300705..55303430-chr14:55305101..55307686,2	K562	blood:
2	chr14:55304408..55306842-chr14:55369413..55371033,2	MCF-7	breast:
3	chr14:55305231..55308673-chr14:55367563..55370969,7	MCF-7	breast:
4	chr14:55303907..55306505-chr14:55308047..55309664,2	K562	blood:

Variant related genes	Relation type
ENSG00000131979	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10131232	0.95[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs10133662	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs10133941	0.84[ASN][1000 genomes]
rs11626298	0.84[ASN][1000 genomes]
rs11848732	0.85[ASN][1000 genomes]
rs12587434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12589758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17127992	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17128004	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057368	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2057369	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2145945	0.86[ASN][1000 genomes]
rs2149483	0.89[ASN][1000 genomes]
rs2878168	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4411417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4462519	0.82[ASN][1000 genomes]
rs55985131	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57875940	0.97[EUR][1000 genomes]
rs58992937	0.85[EUR][1000 genomes]
rs59750960	0.83[EUR][1000 genomes]
rs60851395	0.82[EUR][1000 genomes]
rs67468157	0.88[ASN][1000 genomes]
rs7141685	0.83[ASN][1000 genomes]
rs7144602	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs7148266	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7151058	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7154323	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7155309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713453	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713456	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713460	0.93[EUR][1000 genomes]
rs72713467	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs752688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8007201	0.95[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs841	0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9323272	0.83[ASN][1000 genomes]
rs9671371	0.95[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9671455	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9671850	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10483639	FBXO34	cis	cerebellum	SCAN
rs10483639	TXNDC16	cis	cerebellum	SCAN
rs10483639	CST9L	trans	cerebellum	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55299200-55308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:55301000-55310000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:55303200-55306600	Enhancers	Fetal Intestine Small	intestine
4	chr14:55303400-55337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:55304000-55306800	Enhancers	Fetal Intestine Large	intestine
6	chr14:55304400-55307200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr14:55304600-55307000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr14:55304800-55306600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:55304800-55308000	Weak transcription	Lung	lung
10	chr14:55304800-55309200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr14:55305000-55320400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:55305200-55307200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr14:55305200-55307600	Weak transcription	Primary B cells from cord blood	blood
14	chr14:55305200-55308000	Weak transcription	Esophagus	oesophagus
15	chr14:55305200-55308000	Weak transcription	Thymus	Thymus
16	chr14:55305200-55312200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr14:55305200-55337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:55305400-55307200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:55305400-55307600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr14:55305400-55314000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr14:55305400-55325800	Weak transcription	Spleen	Spleen
22	chr14:55305600-55307200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:55305600-55307200	Weak transcription	GM12878-XiMat	blood
24	chr14:55305600-55313200	Strong transcription	Primary T cells from cord blood	blood
25	chr14:55305800-55306600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:55305800-55306800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:55305800-55307000	Enhancers	Stomach Mucosa	stomach
28	chr14:55305800-55307400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr14:55305800-55308800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:55305800-55313000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:55305800-55313200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:55305800-55313600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr14:55305800-55321000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:55305800-55326400	Weak transcription	Fetal Thymus	thymus
35	chr14:55306000-55306800	Enhancers	Pancreas	Pancrea
36	chr14:55306000-55307400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr14:55306000-55308600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:55306000-55308600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:55306000-55309000	Weak transcription	Right Ventricle	heart
40	chr14:55306000-55314200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr14:55306200-55306600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr14:55306200-55306600	Enhancers	HepG2	liver
43	chr14:55306200-55309400	Enhancers	Liver	Liver
44	chr14:55306200-55320800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr14:55306200-55337000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr14:55306400-55306600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:55306400-55306800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr14:55306400-55307200	Enhancers	Adipose Nuclei	Adipose
49	chr14:55306400-55307400	Enhancers	Aorta	Aorta
50	chr14:55306400-55307400	Enhancers	Fetal Muscle Leg	muscle

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