Variant report

Variant	rs11159298
Chromosome Location	chr14:78321982-78321983
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78317373..78319812-chr14:78319839..78322835,2	MCF-7	breast:

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10130790	0.87[CHB][hapmap]
rs10873312	0.94[ASN][1000 genomes]
rs1107991	0.85[CEU][hapmap];0.87[CHB][hapmap];0.81[TSI][hapmap]
rs11159290	0.87[CHB][hapmap]
rs11159291	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11159294	0.82[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11159299	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11159300	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11159301	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11159302	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11159303	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11159305	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11159306	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs11621642	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11622297	0.87[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11625833	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11626480	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11628049	0.87[CHB][hapmap]
rs11629157	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12587361	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12590199	0.81[CEU][hapmap]
rs12878904	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs12879726	0.82[CEU][hapmap];0.95[CHB][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12879890	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12884153	0.82[CEU][hapmap];0.95[CHB][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12891444	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12891769	0.93[ASN][1000 genomes]
rs12893815	0.88[CEU][hapmap];0.87[CHB][hapmap]
rs12894510	0.87[ASN][1000 genomes]
rs12897885	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17826188	0.87[ASN][1000 genomes]
rs2003600	0.82[CEU][hapmap];0.95[CHB][hapmap];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2013130	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2017927	0.87[CHB][hapmap]
rs2052444	0.87[CHB][hapmap]
rs2080815	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2080816	1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.93[ASN][1000 genomes]
rs2080817	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2080818	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2098584	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2287648	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2287650	0.81[CEU][hapmap];0.87[CHB][hapmap]
rs2364743	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2364842	0.89[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2886166	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2886167	0.87[CHB][hapmap]
rs2886168	0.87[CHB][hapmap]
rs3783962	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs3783966	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3783968	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3783969	0.89[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3783970	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3783972	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3783974	0.87[CHB][hapmap]
rs3825691	0.87[CHB][hapmap]
rs4359362	0.82[CEU][hapmap];0.95[CHB][hapmap];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4371094	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs4393507	0.82[CEU][hapmap];0.95[CHB][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4411442	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4448861	0.87[CHB][hapmap]
rs4899677	0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[ASN][1000 genomes]
rs4899678	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4899679	0.87[CHB][hapmap]
rs4903650	0.94[ASN][1000 genomes]
rs4903652	0.94[ASN][1000 genomes]
rs4903653	0.94[ASN][1000 genomes]
rs4903654	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4903655	0.87[CHB][hapmap]
rs4903656	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4903657	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4903658	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4903660	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs4903661	0.87[CHB][hapmap]
rs4903662	0.87[CHB][hapmap]
rs4903663	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4903664	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs4903666	0.81[CEU][hapmap];0.87[CHB][hapmap]
rs4903667	0.86[CEU][hapmap];0.89[CHB][hapmap]
rs7145309	0.87[CHB][hapmap]
rs7145567	0.91[ASW][hapmap];0.92[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7147735	0.81[CEU][hapmap];0.87[CHB][hapmap]
rs7149884	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs719049	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs724263	0.87[CHB][hapmap]
rs726538	0.82[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs734654	0.87[CHB][hapmap]
rs7401295	0.94[ASN][1000 genomes]
rs741573	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs741574	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.80[MKK][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs741575	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs7493235	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7493386	0.95[CHB][hapmap]
rs7494718	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8014296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018674	0.87[CHB][hapmap]
rs8019539	0.85[CEU][hapmap];0.86[CHB][hapmap]
rs8020016	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs874025	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs877561	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9323653	0.86[ASN][1000 genomes]
rs962539	0.95[CHB][hapmap]
rs962540	0.83[AMR][1000 genomes];0.92[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	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11159298	ADCK1	cis	lymphoblastoid	seeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
2	chr14:78297600-78324000	Weak transcription	Ovary	ovary
3	chr14:78297600-78336600	Weak transcription	Left Ventricle	heart
4	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:78299000-78325200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr14:78300000-78325400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:78301200-78325200	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:78301400-78325200	Weak transcription	Gastric	stomach
9	chr14:78301400-78325400	Weak transcription	Lung	lung
10	chr14:78301400-78342200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:78302200-78323200	Weak transcription	Right Ventricle	heart
12	chr14:78302200-78331000	Weak transcription	Liver	Liver
13	chr14:78306000-78326400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:78306000-78328800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:78306000-78331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
17	chr14:78306600-78330400	Weak transcription	Dnd41	blood
18	chr14:78310000-78325200	Weak transcription	Brain Substantia Nigra	brain
19	chr14:78310000-78339400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:78310400-78345000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:78311600-78325000	Weak transcription	Primary T cells from cord blood	blood
22	chr14:78313400-78326000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:78314200-78348400	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:78315800-78326400	Weak transcription	Fetal Heart	heart
25	chr14:78318200-78326000	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:78320000-78325200	Weak transcription	Fetal Intestine Small	intestine
27	chr14:78320800-78342200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr14:78321200-78322000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr14:78321200-78322000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr14:78321400-78342800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:78321600-78322200	Enhancers	K562	blood
32	chr14:78321600-78325600	Weak transcription	Adipose Nuclei	Adipose
33	chr14:78321800-78335400	Weak transcription	Psoas Muscle	Psoas
34	chr14:78321800-78348400	Weak transcription	Placenta	Placenta

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