Variant report

Variant	rs8018674
Chromosome Location	chr14:78305409-78305410
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10130790	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs10141465	0.85[ASN][1000 genomes]
rs10146144	0.84[ASN][1000 genomes]
rs1107991	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11159290	0.86[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11159291	0.87[CHB][hapmap]
rs11159294	0.83[CHB][hapmap]
rs11159298	0.87[CHB][hapmap]
rs11159300	0.87[CHB][hapmap]
rs11159301	0.87[CHB][hapmap]
rs11159302	0.86[CHB][hapmap]
rs11159306	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11159307	0.91[CEU][hapmap];0.91[GIH][hapmap]
rs11622297	0.82[CHB][hapmap]
rs11628049	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12587361	0.87[CHB][hapmap]
rs12878904	0.87[CHB][hapmap]
rs12879726	0.83[CHB][hapmap]
rs12884153	0.83[CHB][hapmap]
rs12893815	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2003600	0.87[CHB][hapmap]
rs2010591	0.82[CHB][hapmap]
rs2017927	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs2052444	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs2080814	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2080815	0.87[CHB][hapmap]
rs2080816	0.87[CHB][hapmap]
rs2080817	0.87[CHB][hapmap]
rs2098583	0.95[ASN][1000 genomes]
rs2098584	0.90[CHB][hapmap]
rs2112129	0.83[ASN][1000 genomes]
rs2287648	0.82[CEU][hapmap];0.87[CHB][hapmap]
rs2364739	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2364741	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2364743	0.87[CHB][hapmap]
rs2364744	0.82[ASN][1000 genomes]
rs2364745	0.86[ASN][1000 genomes]
rs2364842	0.83[CHB][hapmap]
rs2886167	1.00[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2886168	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs3783962	0.87[CHB][hapmap]
rs3783966	0.87[CHB][hapmap]
rs3783968	0.87[CHB][hapmap]
rs3783969	0.82[CHB][hapmap]
rs3783971	0.83[ASN][1000 genomes]
rs3783974	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs3825691	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs3825692	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4359362	0.83[CHB][hapmap]
rs4371094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4393507	0.83[CHB][hapmap]
rs4448861	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs4899677	0.83[CHB][hapmap]
rs4899678	0.87[CHB][hapmap]
rs4899679	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];0.99[ASN][1000 genomes]
rs4903654	0.83[CHB][hapmap]
rs4903655	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs4903656	0.87[CHB][hapmap]
rs4903658	0.87[CHB][hapmap]
rs4903660	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4903661	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4903662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4903663	0.87[CHB][hapmap]
rs4903664	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6574406	0.86[ASN][1000 genomes]
rs6574408	0.84[ASN][1000 genomes]
rs6574409	0.80[ASN][1000 genomes]
rs7145309	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7146020	0.82[CHB][hapmap]
rs7149884	0.87[CHB][hapmap]
rs7149911	0.91[CEU][hapmap];0.87[CHB][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap]
rs7151404	0.90[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap]
rs719049	0.83[CHB][hapmap]
rs724263	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs726538	0.83[CHB][hapmap]
rs741573	0.87[CHB][hapmap]
rs741574	0.87[CHB][hapmap]
rs741575	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7493386	0.85[CHB][hapmap]
rs8004053	0.92[ASN][1000 genomes]
rs8006218	0.87[ASN][1000 genomes]
rs8009433	0.87[CHB][hapmap];0.82[GIH][hapmap]
rs8009937	0.88[ASN][1000 genomes]
rs8010212	0.87[ASN][1000 genomes]
rs8014296	0.87[CHB][hapmap]
rs8019539	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8022985	0.92[ASN][1000 genomes]
rs874025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs877561	0.86[CHB][hapmap]
rs962539	0.91[CHB][hapmap];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	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
rs8018674	NRXN3	cis	cerebellum	SCAN
rs8018674	FAM181B	trans	parietal	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

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	chr14:78284200-78309400	Weak transcription	Brain Germinal Matrix	brain
5	chr14:78284200-78312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:78285800-78305800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:78287000-78309400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr14:78287000-78309600	Weak transcription	Osteobl	bone
9	chr14:78289600-78307000	Weak transcription	Colonic Mucosa	Colon
10	chr14:78289600-78311600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:78289800-78306000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:78289800-78309600	Weak transcription	Fetal Brain Female	brain
13	chr14:78290200-78305600	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:78292800-78305600	Weak transcription	Thymus	Thymus
15	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
16	chr14:78297000-78310600	Weak transcription	Spleen	Spleen
17	chr14:78297600-78305800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:78297600-78311200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:78297600-78324000	Weak transcription	Ovary	ovary
20	chr14:78297600-78336600	Weak transcription	Left Ventricle	heart
21	chr14:78297800-78305800	Weak transcription	Primary B cells from cord blood	blood
22	chr14:78297800-78306600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:78297800-78311000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:78297800-78311200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:78298200-78311000	Weak transcription	Fetal Intestine Large	intestine
27	chr14:78298200-78311200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr14:78298400-78306800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:78299000-78305800	Weak transcription	Placenta	Placenta
30	chr14:78299000-78325200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr14:78299400-78305600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr14:78299600-78305600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:78300000-78325400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:78301200-78325200	Weak transcription	Fetal Muscle Leg	muscle
35	chr14:78301400-78305800	Weak transcription	Fetal Stomach	stomach
36	chr14:78301400-78315400	Weak transcription	Fetal Intestine Small	intestine
37	chr14:78301400-78325200	Weak transcription	Gastric	stomach
38	chr14:78301400-78325400	Weak transcription	Lung	lung
39	chr14:78301400-78342200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:78302200-78308400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr14:78302200-78309600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr14:78302200-78323200	Weak transcription	Right Ventricle	heart
43	chr14:78302200-78331000	Weak transcription	Liver	Liver
44	chr14:78303000-78311200	Weak transcription	Adipose Nuclei	Adipose
45	chr14:78303000-78321200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:78303200-78305600	Weak transcription	Primary T cells from cord blood	blood
47	chr14:78304200-78305600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:78304200-78305600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr14:78304200-78306000	Enhancers	Brain Cingulate Gyrus	brain
50	chr14:78304200-78306200	Enhancers	Brain Substantia Nigra	brain

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