Variant report

Variant	rs10125399
Chromosome Location	chr9:14179894-14179895
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10122366	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10122412	0.82[AMR][1000 genomes]
rs10124557	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10125421	0.82[AMR][1000 genomes]
rs10756534	0.91[AMR][1000 genomes]
rs10810102	0.88[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10961388	0.82[AMR][1000 genomes]
rs10961397	0.91[AMR][1000 genomes]
rs11793827	1.00[EUR][1000 genomes]
rs12335788	0.82[AMR][1000 genomes]
rs12335815	0.82[AMR][1000 genomes]
rs12337592	1.00[EUR][1000 genomes]
rs12340536	0.82[AMR][1000 genomes]
rs12341599	0.82[AMR][1000 genomes]
rs12344913	0.82[AMR][1000 genomes]
rs12344948	0.91[AMR][1000 genomes]
rs12349392	1.00[EUR][1000 genomes]
rs12351166	1.00[EUR][1000 genomes]
rs12353469	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16931417	0.82[AMR][1000 genomes]
rs16931440	1.00[EUR][1000 genomes]
rs28440824	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7027294	1.00[EUR][1000 genomes]
rs7042124	0.82[AMR][1000 genomes]
rs7042142	0.82[AMR][1000 genomes]
rs73411963	0.91[AMR][1000 genomes]
rs73645005	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73645007	1.00[EUR][1000 genomes]
rs73645008	1.00[EUR][1000 genomes]
rs73645009	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv892596	chr9:14145487-14208724	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv892597	chr9:14163383-14233159	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14123800-14198600	Weak transcription	Gastric	stomach
2	chr9:14134000-14181000	Weak transcription	Ovary	ovary
3	chr9:14159800-14180200	Weak transcription	Fetal Stomach	stomach
4	chr9:14160600-14181400	Weak transcription	HSMM	muscle
5	chr9:14165000-14180200	Weak transcription	Brain Angular Gyrus	brain
6	chr9:14165800-14180200	Weak transcription	Brain Anterior Caudate	brain
7	chr9:14165800-14181800	Weak transcription	Psoas Muscle	Psoas
8	chr9:14166200-14183200	Weak transcription	Esophagus	oesophagus
9	chr9:14170400-14186200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:14170800-14180200	Weak transcription	Right Atrium	heart
11	chr9:14171400-14180200	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:14171800-14180800	Weak transcription	Osteobl	bone
13	chr9:14172200-14181800	Weak transcription	Right Ventricle	heart
14	chr9:14174000-14180600	Weak transcription	Pancreas	Pancrea
15	chr9:14174600-14180000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:14174800-14180200	Weak transcription	Small Intestine	intestine
17	chr9:14176600-14180800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr9:14177200-14180600	Weak transcription	Left Ventricle	heart
19	chr9:14177200-14203400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr9:14177800-14180000	Enhancers	Liver	Liver
21	chr9:14178000-14181400	Enhancers	Stomach Mucosa	stomach
22	chr9:14178200-14180000	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:14178200-14180200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr9:14178600-14180600	Strong transcription	HUVEC	blood vessel
25	chr9:14178800-14180000	Enhancers	Colon Smooth Muscle	Colon
26	chr9:14178800-14180200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:14178800-14180200	Enhancers	Brain Germinal Matrix	brain
28	chr9:14178800-14180400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:14178800-14181400	Active TSS	Aorta	Aorta
30	chr9:14179000-14180600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:14179000-14181600	Enhancers	A549	lung
32	chr9:14179200-14180200	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr9:14179200-14180200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr9:14179200-14180200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr9:14179200-14180200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr9:14179400-14180200	Enhancers	HepG2	liver
37	chr9:14179400-14180200	Genic enhancers	NHEK	skin
38	chr9:14179400-14180400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr9:14179400-14180600	Enhancers	Adipose Nuclei	Adipose
40	chr9:14179600-14180200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr9:14179600-14180200	Enhancers	HMEC	breast
42	chr9:14179600-14180400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:14179600-14180400	Enhancers	Brain Substantia Nigra	brain
44	chr9:14179600-14180400	Enhancers	Duodenum Mucosa	Duodenum
45	chr9:14179600-14180400	Enhancers	Fetal Brain Female	brain
46	chr9:14179600-14180400	Enhancers	Rectal Smooth Muscle	rectum
47	chr9:14179600-14180600	Enhancers	Brain Cingulate Gyrus	brain
48	chr9:14179600-14181000	Genic enhancers	Fetal Lung	lung
49	chr9:14179600-14183400	Enhancers	Fetal Heart	heart
50	chr9:14179600-14183400	Enhancers	NH-A	brain

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