Variant report

Variant	rs741574
Chromosome Location	chr14:78310102-78310103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10130790	0.87[CHB][hapmap]
rs10873312	0.88[ASN][1000 genomes]
rs1107991	0.87[CHB][hapmap]
rs11159290	0.87[CHB][hapmap]
rs11159291	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs11159294	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11159298	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]
rs11159299	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11159300	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]
rs11159301	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]
rs11159302	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11159303	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11159305	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11159306	0.87[CHB][hapmap]
rs11621642	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622297	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11625833	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11626480	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628049	0.87[CHB][hapmap]
rs11629157	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12587361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12590199	0.89[ASW][hapmap];0.92[CEU][hapmap];0.97[GIH][hapmap];0.83[LWK][hapmap];0.89[TSI][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12878904	1.00[CHB][hapmap]
rs12879726	0.92[CEU][hapmap];0.95[CHB][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12879890	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12884153	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12891444	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891769	1.00[ASN][1000 genomes]
rs12893815	0.87[CHB][hapmap]
rs12894510	0.81[ASN][1000 genomes]
rs12897885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17826188	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2003600	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2013130	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2017927	0.87[CHB][hapmap]
rs2052444	0.87[CHB][hapmap]
rs2080815	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs2080816	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[ASN][1000 genomes]
rs2080817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2080818	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2098584	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2287648	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs2287650	0.89[ASW][hapmap];0.92[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2364743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364842	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2886166	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[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];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783966	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3783968	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]
rs3783969	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783970	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3783972	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783974	0.87[CHB][hapmap]
rs3825691	0.87[CHB][hapmap]
rs4359362	0.92[CEU][hapmap];0.95[CHB][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4371094	0.87[CHB][hapmap]
rs4393507	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4411442	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4448861	0.87[CHB][hapmap]
rs4899677	0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[ASN][1000 genomes]
rs4899678	1.00[CHB][hapmap]
rs4899679	0.87[CHB][hapmap]
rs4903650	0.88[ASN][1000 genomes]
rs4903652	0.88[ASN][1000 genomes]
rs4903653	0.88[ASN][1000 genomes]
rs4903654	0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903655	0.87[CHB][hapmap]
rs4903656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903657	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4903658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4903660	0.87[CHB][hapmap]
rs4903661	0.87[CHB][hapmap]
rs4903662	0.87[CHB][hapmap]
rs4903663	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4903664	0.87[CHB][hapmap]
rs4903666	0.92[CEU][hapmap];0.87[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4903667	0.95[CEU][hapmap];0.89[CHB][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7145309	0.87[CHB][hapmap]
rs7145567	0.81[CEU][hapmap];0.87[CHB][hapmap]
rs7147735	1.00[ASW][hapmap];0.92[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7149884	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]
rs719049	0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs724263	0.87[CHB][hapmap]
rs726538	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs734654	0.85[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];0.97[GIH][hapmap];0.82[TSI][hapmap]
rs7401295	0.88[ASN][1000 genomes]
rs741573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741575	0.87[CHB][hapmap]
rs7493235	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7493386	0.95[CHB][hapmap]
rs7494718	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8014296	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8018674	0.87[CHB][hapmap]
rs8019539	0.86[CHB][hapmap]
rs8020016	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874025	0.87[CHB][hapmap]
rs877561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs962539	0.85[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap]
rs962540	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[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
rs741574	ADCK1	cis	lymphoblastoid	seeQTL
rs741574	RPS6KL1	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
2	chr14:78274800-78316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:78283600-78311000	Weak transcription	Hela-S3	cervix
4	chr14:78284200-78312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:78289600-78311600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
7	chr14:78297000-78310600	Weak transcription	Spleen	Spleen
8	chr14:78297600-78311200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:78297600-78324000	Weak transcription	Ovary	ovary
10	chr14:78297600-78336600	Weak transcription	Left Ventricle	heart
11	chr14:78297800-78311000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:78297800-78311200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr14:78298200-78311000	Weak transcription	Fetal Intestine Large	intestine
15	chr14:78298200-78311200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr14:78299000-78325200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:78300000-78325400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:78301200-78325200	Weak transcription	Fetal Muscle Leg	muscle
19	chr14:78301400-78315400	Weak transcription	Fetal Intestine Small	intestine
20	chr14:78301400-78325200	Weak transcription	Gastric	stomach
21	chr14:78301400-78325400	Weak transcription	Lung	lung
22	chr14:78301400-78342200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr14:78302200-78323200	Weak transcription	Right Ventricle	heart
24	chr14:78302200-78331000	Weak transcription	Liver	Liver
25	chr14:78303000-78311200	Weak transcription	Adipose Nuclei	Adipose
26	chr14:78303000-78321200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:78306000-78310600	Weak transcription	Primary T cells from cord blood	blood
28	chr14:78306000-78326400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:78306000-78328800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr14:78306000-78331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
32	chr14:78306200-78310600	Weak transcription	Placenta	Placenta
33	chr14:78306600-78330400	Weak transcription	Dnd41	blood
34	chr14:78306800-78310400	Weak transcription	Fetal Stomach	stomach
35	chr14:78309200-78310600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr14:78309400-78310200	Enhancers	Brain Hippocampus Middle	brain
37	chr14:78309400-78310600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:78309600-78310200	Enhancers	Brain Anterior Caudate	brain
39	chr14:78309600-78310400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr14:78310000-78310400	Enhancers	Brain Cingulate Gyrus	brain
41	chr14:78310000-78325200	Weak transcription	Brain Substantia Nigra	brain
42	chr14:78310000-78339400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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