Variant report

Variant	rs11830219
Chromosome Location	chr12:117389397-117389398
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11068269	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11829895	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11832649	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11835474	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1320027	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16947216	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16947228	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16947235	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16947246	1.00[EUR][1000 genomes]
rs35749640	1.00[EUR][1000 genomes]
rs36021180	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3935958	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3956801	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55693524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56103902	1.00[EUR][1000 genomes]
rs56721166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61563045	1.00[AMR][1000 genomes]
rs7313865	1.00[EUR][1000 genomes]
rs7964659	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7977227	1.00[EUR][1000 genomes]
rs7980519	1.00[CEU][hapmap]
rs937567	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs952934	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1046811	chr12:117353904-117396230	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	esv1798657	chr12:117354067-117392259	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
4	nsv1048942	chr12:117365506-117400588	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
2	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:117373800-117393200	Weak transcription	Stomach Mucosa	stomach
5	chr12:117378000-117392600	Weak transcription	Psoas Muscle	Psoas
6	chr12:117381200-117390200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:117381200-117391200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:117381400-117389600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr12:117381600-117390200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:117381600-117390400	Strong transcription	Primary T cells from cord blood	blood
11	chr12:117381600-117390800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:117381800-117390000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:117381800-117390200	Strong transcription	Primary B cells from peripheral blood	blood
14	chr12:117381800-117390400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:117381800-117391400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:117381800-117396200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:117382000-117391400	Strong transcription	Fetal Stomach	stomach
18	chr12:117382000-117396400	Weak transcription	GM12878-XiMat	blood
19	chr12:117382400-117389400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:117382400-117390400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:117382400-117390600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:117382600-117408000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:117382800-117390200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:117383000-117389800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:117383000-117390200	Strong transcription	Adipose Nuclei	Adipose
26	chr12:117383000-117391000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:117383000-117391200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:117383000-117391400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr12:117383200-117389600	Strong transcription	Placenta	Placenta
30	chr12:117383200-117389800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:117383200-117390000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:117383200-117390200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:117383200-117390200	Strong transcription	Liver	Liver
34	chr12:117383200-117390400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:117383200-117390600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:117384400-117392600	Weak transcription	Fetal Heart	heart
37	chr12:117384400-117411200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr12:117384600-117427400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:117384800-117393200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:117384800-117402200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:117384800-117407400	Weak transcription	Brain Angular Gyrus	brain
42	chr12:117384800-117411000	Weak transcription	Hela-S3	cervix
43	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:117385000-117393000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:117385000-117396400	Weak transcription	Colonic Mucosa	Colon
46	chr12:117385200-117399400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:117385200-117406200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:117385200-117410200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:117385200-117410600	Weak transcription	Fetal Kidney	kidney
50	chr12:117385800-117390000	Strong transcription	HSMM	muscle

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