Variant report

Variant	rs7040053
Chromosome Location	chr9:14235002-14235003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10511590	1.00[CHD][hapmap]
rs10961441	0.96[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10961443	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10961444	0.96[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11789657	0.83[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1322985	1.00[CHD][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1322986	0.94[GIH][hapmap];0.94[MEX][hapmap];0.88[AMR][1000 genomes]
rs1322987	0.83[GIH][hapmap];0.94[MEX][hapmap];0.86[AMR][1000 genomes]
rs13284590	1.00[CHD][hapmap]
rs16931499	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs551272	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv892598	chr9:14234315-14274950	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14221200-14245600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:14221800-14237400	Weak transcription	Aorta	Aorta
3	chr9:14221800-14237400	Weak transcription	Gastric	stomach
4	chr9:14222200-14235200	Weak transcription	Fetal Intestine Small	intestine
5	chr9:14222400-14235200	Weak transcription	Liver	Liver
6	chr9:14222400-14235400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:14222400-14236400	Weak transcription	HSMM	muscle
8	chr9:14222400-14236800	Weak transcription	NHLF	lung
9	chr9:14222400-14237200	Weak transcription	Stomach Mucosa	stomach
10	chr9:14222400-14237800	Weak transcription	NH-A	brain
11	chr9:14222400-14238000	Weak transcription	Placenta	Placenta
12	chr9:14222400-14240600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr9:14222600-14235200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr9:14222600-14235800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:14222600-14236400	Weak transcription	Psoas Muscle	Psoas
16	chr9:14222600-14236400	Weak transcription	HMEC	breast
17	chr9:14222600-14236800	Weak transcription	NHEK	skin
18	chr9:14222600-14237000	Weak transcription	Hela-S3	cervix
19	chr9:14222600-14238000	Weak transcription	Osteobl	bone
20	chr9:14222800-14236800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:14223000-14236400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:14223200-14236600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:14224000-14238000	Weak transcription	Pancreas	Pancrea
24	chr9:14224400-14246800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr9:14224800-14235200	Weak transcription	Small Intestine	intestine
26	chr9:14224800-14237800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr9:14227200-14235200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr9:14227600-14236400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr9:14230000-14237000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr9:14231000-14238200	Weak transcription	Ovary	ovary
31	chr9:14231400-14235800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:14231600-14235200	Weak transcription	Adipose Nuclei	Adipose
33	chr9:14232000-14235200	Weak transcription	A549	lung
34	chr9:14232200-14235600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr9:14232200-14235600	Weak transcription	Colon Smooth Muscle	Colon
36	chr9:14232200-14236000	Weak transcription	Brain Substantia Nigra	brain
37	chr9:14232400-14235800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr9:14232400-14235800	Weak transcription	Brain Hippocampus Middle	brain
39	chr9:14232400-14236200	Weak transcription	Fetal Stomach	stomach
40	chr9:14232400-14237000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr9:14232600-14237000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr9:14232600-14237400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr9:14233000-14235200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:14233000-14235200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr9:14233000-14235200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:14233000-14235400	Weak transcription	Brain Anterior Caudate	brain
47	chr9:14233000-14235400	Weak transcription	Right Ventricle	heart
48	chr9:14233000-14237400	Weak transcription	Fetal Muscle Leg	muscle
49	chr9:14233000-14237400	Weak transcription	Lung	lung
50	chr9:14233000-14237400	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links