Variant report

Variant	rs7149911
Chromosome Location	chr14:78355819-78355820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10130790	0.87[CHB][hapmap]
rs1107991	0.87[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap]
rs11159290	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs11159306	0.87[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs11159307	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11623306	0.98[ASN][1000 genomes]
rs11628049	0.87[CHB][hapmap]
rs12893815	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs2010591	0.95[CHB][hapmap]
rs2017927	0.87[CHB][hapmap]
rs2052444	0.87[CHB][hapmap]
rs2080814	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2287648	0.92[ASW][hapmap];0.82[CEU][hapmap];0.85[YRI][hapmap]
rs2287650	0.87[CHB][hapmap]
rs2364739	0.86[EUR][1000 genomes]
rs2364741	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2364747	0.80[JPT][hapmap]
rs2886167	0.87[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap]
rs2886168	0.87[CHB][hapmap]
rs3783960	0.98[ASN][1000 genomes]
rs3783974	0.87[CHB][hapmap]
rs3825691	0.87[CHB][hapmap]
rs3825692	0.83[EUR][1000 genomes]
rs4371094	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs4448861	0.87[CHB][hapmap]
rs4899679	0.91[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap]
rs4903655	0.87[CHB][hapmap]
rs4903660	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs4903661	0.87[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap]
rs4903662	0.91[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4903664	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs4903666	0.87[CHB][hapmap]
rs4903667	0.84[CHB][hapmap]
rs6574410	0.99[ASN][1000 genomes]
rs7145309	0.92[ASW][hapmap];0.91[CEU][hapmap];0.87[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7145567	0.87[CHB][hapmap]
rs7146020	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs7147735	0.87[CHB][hapmap]
rs7151404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724263	0.87[CHB][hapmap]
rs734654	0.87[CHB][hapmap]
rs741575	0.87[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs8004053	0.81[ASN][1000 genomes]
rs8009433	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs8018674	0.91[CEU][hapmap];0.87[CHB][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap]
rs8019539	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs8022985	0.81[ASN][1000 genomes]
rs874025	0.87[CHB][hapmap];0.81[JPT][hapmap];0.81[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
rs7149911	ADCK1	cis	cerebellum	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
2	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
3	chr14:78335800-78358600	Weak transcription	HSMMtube	muscle
4	chr14:78346600-78375600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr14:78347200-78366000	Weak transcription	Psoas Muscle	Psoas
6	chr14:78348000-78356400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:78349200-78356000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:78349200-78356000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:78349200-78358200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:78349200-78397200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:78349200-78407200	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:78349400-78378000	Weak transcription	Fetal Brain Female	brain
13	chr14:78349800-78358400	Weak transcription	Stomach Mucosa	stomach
14	chr14:78350400-78361200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:78350600-78365400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:78350800-78375800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:78350800-78376200	Weak transcription	Brain Angular Gyrus	brain
18	chr14:78351200-78356800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:78352200-78356400	Weak transcription	HMEC	breast
20	chr14:78352600-78398800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr14:78352800-78356600	Strong transcription	Primary T cells from cord blood	blood
22	chr14:78353000-78356800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:78353200-78356400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:78353400-78356000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr14:78353400-78356800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr14:78353400-78358200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:78353600-78356000	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:78353600-78356200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr14:78353600-78356200	Strong transcription	Liver	Liver
30	chr14:78353600-78356200	Strong transcription	Left Ventricle	heart
31	chr14:78354000-78375800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:78354000-78375800	Weak transcription	Gastric	stomach
33	chr14:78354200-78356000	Strong transcription	Fetal Intestine Large	intestine
34	chr14:78354200-78356600	Strong transcription	Primary B cells from cord blood	blood
35	chr14:78354400-78356200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:78354400-78374400	Weak transcription	Fetal Muscle Leg	muscle
37	chr14:78354600-78356000	Weak transcription	Adipose Nuclei	Adipose
38	chr14:78354600-78359000	Weak transcription	Right Ventricle	heart
39	chr14:78354600-78360000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:78354600-78365400	Weak transcription	Brain Anterior Caudate	brain
41	chr14:78354600-78366800	Weak transcription	Fetal Stomach	stomach
42	chr14:78354600-78367400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr14:78354600-78368400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:78354600-78368600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr14:78354600-78375800	Weak transcription	Brain Substantia Nigra	brain
46	chr14:78354800-78357400	Weak transcription	Pancreas	Pancrea
47	chr14:78354800-78365400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr14:78354800-78379200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:78354800-78391600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:78355000-78356800	ZNF genes & repeats	Fetal Intestine Small	intestine

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