Variant report

Variant	rs7149884
Chromosome Location	chr14:78325698-78325699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10130790	0.87[CHB][hapmap]
rs10873312	0.87[ASN][1000 genomes]
rs1107991	0.87[CHB][hapmap]
rs11159290	0.87[CHB][hapmap]
rs11159291	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs11159294	0.82[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11159298	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]
rs11159299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159302	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159303	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11159305	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11159306	0.87[CHB][hapmap]
rs11621642	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11622297	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11625833	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11626480	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11628049	0.87[CHB][hapmap]
rs11629157	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12587361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12590199	0.80[ASW][hapmap];0.92[CEU][hapmap];0.95[GIH][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12878904	1.00[CHB][hapmap]
rs12879726	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12879890	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12884153	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12891444	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12891769	0.99[ASN][1000 genomes]
rs12893815	0.87[CHB][hapmap]
rs12897885	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17826188	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2003600	0.92[CEU][hapmap];0.95[CHB][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2013130	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2017927	0.87[CHB][hapmap]
rs2052444	0.87[CHB][hapmap]
rs2080815	1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs2080816	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.99[ASN][1000 genomes]
rs2080817	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2098584	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2287648	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs2287650	0.92[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];0.98[GIH][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2364743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2364842	0.92[CEU][hapmap];0.95[CHB][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2886166	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2886167	0.87[CHB][hapmap]
rs2886168	0.87[CHB][hapmap]
rs3783962	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3783966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783969	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3783970	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783972	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3783974	0.87[CHB][hapmap]
rs3825691	0.87[CHB][hapmap]
rs4359362	0.92[CEU][hapmap];0.95[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4371094	0.87[CHB][hapmap]
rs4393507	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4411442	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4448861	0.87[CHB][hapmap]
rs4899677	0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[ASN][1000 genomes]
rs4899678	1.00[CHB][hapmap]
rs4899679	0.87[CHB][hapmap]
rs4903650	0.87[ASN][1000 genomes]
rs4903652	0.87[ASN][1000 genomes]
rs4903653	0.87[ASN][1000 genomes]
rs4903654	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4903655	0.87[CHB][hapmap]
rs4903656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4903657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903660	0.87[CHB][hapmap]
rs4903661	0.87[CHB][hapmap]
rs4903662	0.87[CHB][hapmap]
rs4903663	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4903664	0.87[CHB][hapmap]
rs4903666	0.92[CEU][hapmap];0.87[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4903667	0.95[CEU][hapmap];0.89[CHB][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7145309	0.87[CHB][hapmap]
rs7145567	0.81[CEU][hapmap];0.87[CHB][hapmap]
rs7147735	0.92[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];0.98[GIH][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs719049	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs724263	0.87[CHB][hapmap]
rs726538	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs734654	0.85[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];0.95[GIH][hapmap];0.82[TSI][hapmap]
rs7401295	0.87[ASN][1000 genomes]
rs741573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs741574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs741575	0.87[CHB][hapmap]
rs7493235	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7493386	0.95[CHB][hapmap];0.88[YRI][hapmap]
rs7494718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014296	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8018674	0.87[CHB][hapmap]
rs8019539	0.86[CHB][hapmap]
rs8020016	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs874025	0.87[CHB][hapmap]
rs877561	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs962539	0.85[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs962540	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7149884	RPS6KL1	cis	cerebellum	SCAN
rs7149884	ADCK1	cis	lymphoblastoid	seeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
2	chr14:78297600-78336600	Weak transcription	Left Ventricle	heart
3	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:78301400-78342200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:78302200-78331000	Weak transcription	Liver	Liver
6	chr14:78306000-78326400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:78306000-78328800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr14:78306000-78331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
10	chr14:78306600-78330400	Weak transcription	Dnd41	blood
11	chr14:78310000-78339400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:78310400-78345000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:78313400-78326000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:78314200-78348400	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:78315800-78326400	Weak transcription	Fetal Heart	heart
16	chr14:78318200-78326000	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:78320800-78342200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr14:78321400-78342800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:78321800-78335400	Weak transcription	Psoas Muscle	Psoas
20	chr14:78321800-78348400	Weak transcription	Placenta	Placenta
21	chr14:78322000-78342000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:78322000-78342600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:78322200-78353400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:78322400-78327200	Weak transcription	Colonic Mucosa	Colon
25	chr14:78322800-78331600	Enhancers	K562	blood
26	chr14:78323000-78326800	Weak transcription	Fetal Intestine Large	intestine
27	chr14:78323400-78339600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr14:78323600-78330600	Weak transcription	Aorta	Aorta
29	chr14:78323600-78331600	Weak transcription	Primary B cells from cord blood	blood
30	chr14:78324000-78328200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr14:78324000-78353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr14:78324200-78327600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:78324200-78328400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr14:78324200-78354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:78324400-78328800	Weak transcription	Right Ventricle	heart
36	chr14:78324400-78339800	Weak transcription	Ovary	ovary
37	chr14:78324600-78327200	Weak transcription	Brain Anterior Caudate	brain
38	chr14:78324800-78330400	Weak transcription	Stomach Mucosa	stomach
39	chr14:78325000-78327000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:78325000-78328200	Strong transcription	Primary T cells from cord blood	blood
41	chr14:78325000-78332400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:78325000-78345000	Weak transcription	Brain Angular Gyrus	brain
43	chr14:78325200-78325800	Strong transcription	Spleen	Spleen
44	chr14:78325200-78326400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr14:78325200-78326600	Strong transcription	Brain Substantia Nigra	brain
46	chr14:78325200-78327000	Strong transcription	Fetal Muscle Leg	muscle
47	chr14:78325200-78327000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr14:78325200-78327200	Strong transcription	Gastric	stomach
49	chr14:78325200-78327400	Strong transcription	Fetal Stomach	stomach
50	chr14:78325200-78329200	Strong transcription	Fetal Intestine Small	intestine

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