Variant report

Variant	rs741575
Chromosome Location	chr14:78349033-78349034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78348937..78352037-chr14:78352512..78354999,3	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10130790	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs10141465	0.82[ASN][1000 genomes]
rs10146144	0.86[ASN][1000 genomes]
rs1107991	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11159290	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11159291	0.87[CHB][hapmap]
rs11159294	0.83[CHB][hapmap]
rs11159298	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs11159300	0.87[CHB][hapmap]
rs11159301	0.87[CHB][hapmap]
rs11159302	0.86[CHB][hapmap]
rs11159306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622297	0.82[CHB][hapmap]
rs11628049	1.00[CHB][hapmap]
rs12587361	0.87[CHB][hapmap]
rs12878904	0.87[CHB][hapmap]
rs12879726	0.83[CHB][hapmap]
rs12884153	0.83[CHB][hapmap]
rs12893815	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003600	0.87[CHB][hapmap]
rs2010591	0.82[CHB][hapmap]
rs2017927	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs2052444	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2080814	0.94[ASN][1000 genomes]
rs2080815	0.87[CHB][hapmap]
rs2080816	0.87[CHB][hapmap]
rs2080817	0.87[CHB][hapmap]
rs2098583	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2098584	0.90[CHB][hapmap]
rs2287648	0.87[CHB][hapmap]
rs2364739	0.94[ASN][1000 genomes]
rs2364741	0.94[ASN][1000 genomes]
rs2364743	0.87[CHB][hapmap]
rs2364745	0.85[ASN][1000 genomes]
rs2364842	0.83[CHB][hapmap]
rs2886167	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2886168	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs3783962	0.87[CHB][hapmap]
rs3783966	0.87[CHB][hapmap]
rs3783968	0.87[CHB][hapmap]
rs3783969	0.82[CHB][hapmap]
rs3783971	0.85[ASN][1000 genomes]
rs3783974	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs3825691	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs3825692	0.94[ASN][1000 genomes]
rs4359362	0.83[CHB][hapmap]
rs4371094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4393507	0.83[CHB][hapmap]
rs4448861	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs4899677	0.83[CHB][hapmap]
rs4899678	0.87[CHB][hapmap]
rs4899679	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4903654	0.83[CHB][hapmap]
rs4903655	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs4903656	0.87[CHB][hapmap]
rs4903658	0.87[CHB][hapmap]
rs4903660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4903661	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4903662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4903663	0.87[CHB][hapmap]
rs4903664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574406	0.85[ASN][1000 genomes]
rs6574408	0.86[ASN][1000 genomes]
rs6574409	0.88[ASN][1000 genomes]
rs7145309	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7146020	0.82[CHB][hapmap]
rs7149884	0.87[CHB][hapmap]
rs7149911	0.87[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs7151404	0.87[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs719049	0.83[CHB][hapmap]
rs724263	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs726538	0.83[CHB][hapmap]
rs741573	0.87[CHB][hapmap]
rs741574	0.87[CHB][hapmap]
rs7493386	0.85[CHB][hapmap]
rs8004053	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006218	0.84[ASN][1000 genomes]
rs8009433	0.87[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap]
rs8009937	0.81[ASN][1000 genomes]
rs8010212	0.90[ASN][1000 genomes]
rs8014296	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs8018674	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8019539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8022985	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs877561	0.86[CHB][hapmap]
rs962539	0.89[CEU][hapmap];0.91[CHB][hapmap];0.85[AMR][1000 genomes];0.89[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
rs741575	ALDH6A1	cis	parietal	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
3	chr14:78322200-78353400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:78324000-78353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:78324200-78354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:78326600-78352800	Weak transcription	Esophagus	oesophagus
7	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
8	chr14:78328000-78353400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:78334600-78353400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:78335800-78358600	Weak transcription	HSMMtube	muscle
11	chr14:78336400-78354200	Weak transcription	Fetal Intestine Large	intestine
12	chr14:78339600-78353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:78340000-78353400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:78340400-78353600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr14:78340600-78353400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:78340600-78353400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr14:78340600-78353600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:78340600-78353600	Weak transcription	Dnd41	blood
19	chr14:78340800-78354200	Weak transcription	Primary B cells from cord blood	blood
20	chr14:78341000-78349800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr14:78342200-78353400	Weak transcription	Aorta	Aorta
22	chr14:78342200-78353400	Weak transcription	Fetal Intestine Small	intestine
23	chr14:78342600-78352600	Weak transcription	Spleen	Spleen
24	chr14:78342800-78353600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:78345000-78353600	Weak transcription	Liver	Liver
26	chr14:78345200-78350400	Enhancers	Brain Germinal Matrix	brain
27	chr14:78345400-78350800	Enhancers	Left Ventricle	heart
28	chr14:78345600-78349200	Weak transcription	Stomach Mucosa	stomach
29	chr14:78345600-78350200	Enhancers	Fetal Heart	heart
30	chr14:78346400-78352800	Weak transcription	Primary T cells from cord blood	blood
31	chr14:78346600-78353400	Weak transcription	Ovary	ovary
32	chr14:78346600-78375600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr14:78346800-78353400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:78347200-78352400	Weak transcription	Gastric	stomach
35	chr14:78347200-78366000	Weak transcription	Psoas Muscle	Psoas
36	chr14:78347400-78353600	Weak transcription	Pancreas	Pancrea
37	chr14:78347600-78349400	Enhancers	Right Atrium	heart
38	chr14:78347600-78350600	Enhancers	Brain Anterior Caudate	brain
39	chr14:78347800-78350400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr14:78347800-78353400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:78348000-78356400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:78348200-78349200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr14:78348200-78349400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:78348200-78350400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:78348200-78350600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:78348200-78350600	Enhancers	Fetal Muscle Leg	muscle
47	chr14:78348200-78350800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:78348200-78350800	Enhancers	Brain Angular Gyrus	brain
49	chr14:78348200-78350800	Enhancers	Brain Cingulate Gyrus	brain
50	chr14:78348200-78350800	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links