Variant report

Variant	rs2078463
Chromosome Location	chr9:14146391-14146392
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14145586..14147431-chr9:14312713..14315286,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10114590	0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs10117741	0.86[YRI][hapmap]
rs10120754	0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs10123886	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs10738354	1.00[EUR][1000 genomes]
rs10756538	1.00[EUR][1000 genomes]
rs10810101	0.91[YRI][hapmap]
rs11788568	0.86[YRI][hapmap]
rs11789923	0.86[YRI][hapmap]
rs12344875	0.81[YRI][hapmap]
rs12349598	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs12351537	0.92[ASW][hapmap]
rs16931458	1.00[EUR][1000 genomes]
rs16931533	1.00[MEX][hapmap]
rs56951107	1.00[EUR][1000 genomes]
rs61249449	1.00[EUR][1000 genomes]
rs7018727	0.85[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7018901	1.00[EUR][1000 genomes]
rs7018963	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7027395	1.00[EUR][1000 genomes]
rs7031859	1.00[MEX][hapmap]
rs7032410	1.00[EUR][1000 genomes]
rs7036959	1.00[MEX][hapmap]
rs7042142	0.81[YRI][hapmap]
rs7047737	0.91[YRI][hapmap]
rs73411938	1.00[EUR][1000 genomes]
rs73411976	1.00[EUR][1000 genomes]
rs73411989	1.00[EUR][1000 genomes]
rs73413883	1.00[EUR][1000 genomes]
rs73413895	1.00[EUR][1000 genomes]
rs73413897	1.00[EUR][1000 genomes]
rs7846990	0.82[AFR][1000 genomes]
rs7853115	1.00[EUR][1000 genomes]
rs7860845	1.00[MEX][hapmap]
rs7863561	1.00[MEX][hapmap]
rs7863702	1.00[MEX][hapmap]

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	nsv892595	chr9:14129951-14168029	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14116600-14159200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:14116600-14179200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:14116800-14156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:14117000-14171200	Weak transcription	Hela-S3	cervix
5	chr9:14120200-14159000	Weak transcription	NHLF	lung
6	chr9:14120600-14151600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr9:14120600-14154800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr9:14120600-14159000	Weak transcription	NH-A	brain
9	chr9:14123800-14198600	Weak transcription	Gastric	stomach
10	chr9:14126400-14148200	Weak transcription	Placenta	Placenta
11	chr9:14127000-14151200	Weak transcription	Aorta	Aorta
12	chr9:14127000-14156400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr9:14131800-14173200	Weak transcription	Pancreas	Pancrea
14	chr9:14133400-14153200	Weak transcription	Psoas Muscle	Psoas
15	chr9:14134000-14148000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:14134000-14151000	Weak transcription	Adipose Nuclei	Adipose
17	chr9:14134000-14181000	Weak transcription	Ovary	ovary
18	chr9:14134200-14156200	Weak transcription	Right Ventricle	heart
19	chr9:14134200-14159400	Weak transcription	Fetal Stomach	stomach
20	chr9:14136000-14155000	Weak transcription	Brain Germinal Matrix	brain
21	chr9:14137600-14148200	Weak transcription	NHEK	skin
22	chr9:14137600-14153400	Weak transcription	HMEC	breast
23	chr9:14140200-14148000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:14140400-14147200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:14142200-14159000	Weak transcription	Brain Hippocampus Middle	brain
26	chr9:14143800-14147000	Strong transcription	HUVEC	blood vessel
27	chr9:14144000-14157000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:14144200-14147000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:14144200-14152800	Weak transcription	Fetal Brain Male	brain
30	chr9:14144400-14147000	Strong transcription	HSMM	muscle
31	chr9:14144400-14148000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:14144400-14155000	Weak transcription	Brain Angular Gyrus	brain
33	chr9:14144400-14156400	Weak transcription	Brain Substantia Nigra	brain
34	chr9:14144600-14148000	Strong transcription	Fetal Lung	lung
35	chr9:14144800-14146800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr9:14144800-14146800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr9:14144800-14146800	Strong transcription	Fetal Muscle Leg	muscle
38	chr9:14144800-14149400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:14145000-14151200	Weak transcription	Fetal Heart	heart
40	chr9:14145000-14151800	Weak transcription	Colon Smooth Muscle	Colon
41	chr9:14145000-14159400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr9:14145200-14153200	Weak transcription	Fetal Brain Female	brain
43	chr9:14145400-14146400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr9:14145600-14147200	Strong transcription	Liver	Liver
45	chr9:14145600-14151200	Weak transcription	Left Ventricle	heart
46	chr9:14145600-14155000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:14146000-14146400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:14146000-14146400	Enhancers	Osteobl	bone
49	chr9:14146000-14147000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:14146200-14146400	Genic enhancers	A549	lung

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