Variant report

Variant	rs16857699
Chromosome Location	chr2:11755316-11755317
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	chr2:11754721..11756472-chr2:11760388..11762791,2	MCF-7	breast:
3	chr2:11753829..11755570-chr2:11758835..11761117,2	K562	blood:
4	chr2:11755207..11756875-chr2:11801472..11803866,2	K562	blood:
5	chr2:11621457..11624787-chr2:11753040..11757547,4	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10174816	1.00[CEU][hapmap]
rs10183250	1.00[EUR][1000 genomes]
rs11886664	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11890221	1.00[EUR][1000 genomes]
rs11895768	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13420559	1.00[EUR][1000 genomes]
rs13421766	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13424731	1.00[EUR][1000 genomes]
rs13431704	1.00[CEU][hapmap]
rs13432243	1.00[CEU][hapmap]
rs16857649	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4387757	1.00[CEU][hapmap]
rs4668728	1.00[EUR][1000 genomes]
rs4669732	1.00[EUR][1000 genomes]
rs4669734	1.00[EUR][1000 genomes]
rs55736020	1.00[EUR][1000 genomes]
rs56352405	1.00[EUR][1000 genomes]
rs56820808	1.00[EUR][1000 genomes]
rs56834951	1.00[EUR][1000 genomes]
rs57251854	1.00[EUR][1000 genomes]
rs57779431	1.00[EUR][1000 genomes]
rs58477298	1.00[EUR][1000 genomes]
rs58686966	1.00[EUR][1000 genomes]
rs59101452	1.00[EUR][1000 genomes]
rs59157966	1.00[EUR][1000 genomes]
rs59416046	1.00[EUR][1000 genomes]
rs59836200	1.00[EUR][1000 genomes]
rs60798771	1.00[EUR][1000 genomes]
rs61091666	1.00[EUR][1000 genomes]
rs61382095	1.00[EUR][1000 genomes]
rs6432204	1.00[EUR][1000 genomes]
rs6432205	1.00[EUR][1000 genomes]
rs6432206	1.00[EUR][1000 genomes]
rs6432217	1.00[CEU][hapmap]
rs6432218	1.00[CEU][hapmap]
rs6710070	1.00[EUR][1000 genomes]
rs6712902	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6740248	1.00[CEU][hapmap]
rs6744817	1.00[CEU][hapmap]
rs6745921	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6757729	1.00[CEU][hapmap]
rs73185109	1.00[EUR][1000 genomes]
rs73915200	1.00[EUR][1000 genomes]
rs73915202	1.00[EUR][1000 genomes]
rs73917104	1.00[EUR][1000 genomes]
rs73917107	1.00[EUR][1000 genomes]
rs73917124	1.00[EUR][1000 genomes]
rs73917127	1.00[EUR][1000 genomes]
rs73917203	1.00[EUR][1000 genomes]
rs73917206	1.00[EUR][1000 genomes]
rs73917207	1.00[EUR][1000 genomes]
rs7559230	1.00[EUR][1000 genomes]
rs7562399	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7565382	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7585718	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7602962	1.00[EUR][1000 genomes]
rs7608777	1.00[CEU][hapmap]

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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
2	chr2:11700000-11767000	Weak transcription	Right Atrium	heart
3	chr2:11714400-11765000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:11717600-11767000	Weak transcription	Fetal Intestine Small	intestine
5	chr2:11724400-11788600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:11724600-11766800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:11724600-11766800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:11725600-11766800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:11733600-11784000	Strong transcription	HepG2	liver
10	chr2:11736200-11765000	Weak transcription	Fetal Lung	lung
11	chr2:11736400-11755400	Weak transcription	Brain Substantia Nigra	brain
12	chr2:11736800-11762800	Weak transcription	Fetal Heart	heart
13	chr2:11741400-11755400	Weak transcription	Liver	Liver
14	chr2:11743200-11765200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:11743400-11765000	Weak transcription	Left Ventricle	heart
16	chr2:11745200-11765000	Weak transcription	Fetal Kidney	kidney
17	chr2:11747200-11767200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:11748000-11766800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:11748600-11767600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:11749000-11763200	Strong transcription	Fetal Stomach	stomach
21	chr2:11749000-11766800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:11749400-11763400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr2:11749600-11759600	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr2:11750000-11760200	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:11750600-11757400	Strong transcription	Pancreas	Pancrea
26	chr2:11751600-11757000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:11752000-11784400	Strong transcription	Ovary	ovary
28	chr2:11752200-11761400	Weak transcription	Adipose Nuclei	Adipose
29	chr2:11752600-11757200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:11752800-11767200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:11753200-11758800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:11753400-11756600	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:11753400-11757000	Strong transcription	Brain Angular Gyrus	brain
34	chr2:11753400-11759400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:11754000-11757200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:11754200-11756400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:11754200-11759200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:11754200-11759600	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr2:11754200-11766600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:11754800-11759600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:11754800-11759800	Strong transcription	Fetal Muscle Leg	muscle
42	chr2:11755000-11757200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:11755000-11758800	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:11755000-11759600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:11755200-11755400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:11755200-11755600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:11755200-11756400	Strong transcription	Gastric	stomach
48	chr2:11755200-11757800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:11755200-11757800	Strong transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:11755200-11759400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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