Variant report

Variant	rs8017103
Chromosome Location	chr14:69505638-69505639
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69502361..69504492-chr14:69504635..69507504,3	MCF-7	breast:
2	chr14:69504745..69507053-chr14:69509221..69511186,2	K562	blood:
3	chr14:69504480..69506632-chr14:69509556..69511632,2	MCF-7	breast:
4	chr14:69504422..69507358-chr14:69508879..69511159,3	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1007407	1.00[JPT][hapmap]
rs10083451	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10130013	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10131077	0.81[ASN][1000 genomes]
rs10132533	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10134578	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10135127	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10135643	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10135971	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139274	0.81[CHB][hapmap]
rs10139873	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10141040	0.81[ASN][1000 genomes]
rs10143302	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10145565	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10146339	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10146649	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10147369	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10148614	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10149232	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10151376	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10498528	0.81[CHB][hapmap]
rs11158780	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158782	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11158787	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11158790	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11158795	0.87[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs11158798	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1147481	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11622889	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11628126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12323738	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12431846	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12434775	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12435594	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12589028	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1275407	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1275415	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12879406	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs12881049	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12885977	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12886715	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12889849	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs12891103	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1890944	0.81[CHB][hapmap]
rs1892296	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1892297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1914004	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1973677	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2001998	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2012764	1.00[JPT][hapmap]
rs2056153	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2300875	1.00[JPT][hapmap]
rs2331918	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28613298	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3211166	0.83[CEU][hapmap];0.89[CHB][hapmap]
rs35538328	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4338726	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899280	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4899290	0.81[CHB][hapmap]
rs4902691	0.81[CHB][hapmap]
rs4902698	0.81[CHB][hapmap]
rs4902704	0.81[CHB][hapmap]
rs6573869	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7144307	0.84[CEU][hapmap]
rs7148045	0.84[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7151331	0.81[CHB][hapmap]
rs7151797	0.84[AMR][1000 genomes]
rs7160629	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs761899	0.85[AMR][1000 genomes]
rs8008184	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8008829	0.81[CHB][hapmap]
rs9323522	0.81[ASN][1000 genomes]
rs9323524	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8017103	WDR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69501000-69506600	Enhancers	Osteobl	bone
2	chr14:69501600-69506200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr14:69501800-69506000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr14:69502200-69508600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:69502600-69508000	Weak transcription	Fetal Kidney	kidney
6	chr14:69503400-69506400	Enhancers	Aorta	Aorta
7	chr14:69503400-69506600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:69503400-69506600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:69503400-69506800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:69503600-69505800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:69503600-69505800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:69503600-69505800	Enhancers	Right Atrium	heart
13	chr14:69503600-69506000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:69503600-69506000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr14:69503600-69506200	Enhancers	Right Ventricle	heart
16	chr14:69503600-69506400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr14:69503600-69506400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:69503600-69506400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr14:69503600-69506600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr14:69503600-69506600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:69503600-69506600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:69503600-69506600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr14:69503600-69506600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:69503600-69506600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:69503600-69506800	Enhancers	Stomach Smooth Muscle	stomach
26	chr14:69503600-69507200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:69503600-69507200	Enhancers	NH-A	brain
28	chr14:69503800-69505800	Enhancers	Fetal Muscle Trunk	muscle
29	chr14:69503800-69505800	Enhancers	Left Ventricle	heart
30	chr14:69503800-69506400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr14:69503800-69507200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr14:69504000-69505800	Enhancers	Placenta	Placenta
33	chr14:69504000-69506400	Enhancers	Lung	lung
34	chr14:69504000-69506600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:69504000-69506600	Enhancers	A549	lung
36	chr14:69504000-69508400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:69504200-69506000	Enhancers	Fetal Stomach	stomach
38	chr14:69504200-69506400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:69504200-69506400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr14:69504200-69506600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:69504200-69506600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr14:69504400-69506000	Enhancers	NHEK	skin
43	chr14:69504400-69506400	Enhancers	NHLF	lung
44	chr14:69504400-69506600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:69504600-69506000	Enhancers	Fetal Muscle Leg	muscle
46	chr14:69504600-69506200	Enhancers	Adipose Nuclei	Adipose
47	chr14:69504600-69506200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr14:69504600-69506400	Enhancers	NHDF-Ad	bronchial
49	chr14:69504600-69506600	Enhancers	HSMMtube	muscle
50	chr14:69504600-69506800	Enhancers	Colon Smooth Muscle	Colon

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