Variant report

Variant	rs6730352
Chromosome Location	chr2:11754454-11754455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11753643..11756642-chr2:11757433..11758936,2	MCF-7	breast:
2	chr2:11753829..11755570-chr2:11758835..11761117,2	K562	blood:
3	chr2:11621457..11624787-chr2:11753040..11757547,4	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11689869	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13421972	0.94[EUR][1000 genomes]
rs16857679	0.94[EUR][1000 genomes]
rs2252958	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2304399	0.94[ASN][1000 genomes]
rs34592059	0.85[EUR][1000 genomes]
rs55890755	0.96[EUR][1000 genomes]
rs6735957	0.83[ASN][1000 genomes]
rs71446421	0.96[EUR][1000 genomes]
rs7596162	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
2	chr2:11694800-11755200	Weak transcription	Gastric	stomach
3	chr2:11700000-11767000	Weak transcription	Right Atrium	heart
4	chr2:11714400-11765000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:11717600-11767000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:11724400-11788600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:11724600-11766800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:11724600-11766800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:11725600-11766800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:11733600-11784000	Strong transcription	HepG2	liver
11	chr2:11736200-11765000	Weak transcription	Fetal Lung	lung
12	chr2:11736400-11755400	Weak transcription	Brain Substantia Nigra	brain
13	chr2:11736800-11762800	Weak transcription	Fetal Heart	heart
14	chr2:11741400-11755400	Weak transcription	Liver	Liver
15	chr2:11743200-11765200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:11743400-11765000	Weak transcription	Left Ventricle	heart
17	chr2:11745200-11765000	Weak transcription	Fetal Kidney	kidney
18	chr2:11747200-11767200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:11748000-11766800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:11748600-11767600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:11749000-11763200	Strong transcription	Fetal Stomach	stomach
22	chr2:11749000-11766800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:11749400-11763400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr2:11749600-11759600	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr2:11750000-11760200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:11750600-11757400	Strong transcription	Pancreas	Pancrea
27	chr2:11751000-11755200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:11751600-11757000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:11752000-11784400	Strong transcription	Ovary	ovary
30	chr2:11752200-11761400	Weak transcription	Adipose Nuclei	Adipose
31	chr2:11752600-11757200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:11752800-11767200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:11753200-11755200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:11753200-11755200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:11753200-11758800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:11753400-11755000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:11753400-11755200	Weak transcription	Brain Anterior Caudate	brain
38	chr2:11753400-11756600	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:11753400-11757000	Strong transcription	Brain Angular Gyrus	brain
40	chr2:11753400-11759400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:11753600-11755200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:11753800-11755000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:11753800-11755000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:11753800-11755200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:11754000-11754800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:11754000-11754800	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:11754000-11755000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:11754000-11757200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:11754200-11755200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:11754200-11756400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links