Variant report

Variant	rs12280205
Chromosome Location	chr11:47868795-47868796
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47792091..47794821-chr11:47867403..47869086,2	K562	blood:
2	chr11:47734421..47738084-chr11:47868728..47871724,4	K562	blood:
3	chr11:47787394..47789838-chr11:47868299..47871448,5	MCF-7	breast:
4	chr11:47597915..47601799-chr11:47868286..47871887,4	K562	blood:
5	chr11:47787149..47790720-chr11:47868235..47871590,6	MCF-7	breast:
6	chr11:47788106..47790225-chr11:47868385..47869954,2	K562	blood:
7	chr11:47735300..47737622-chr11:47868024..47869979,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109920	Chromatin interaction
ENSG00000123444	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000165923	Chromatin interaction
ENSG00000200376	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11039310	1.00[AMR][1000 genomes]
rs11039400	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12270340	1.00[AMR][1000 genomes]
rs12279571	1.00[AMR][1000 genomes]
rs12285514	0.85[YRI][hapmap]
rs12293210	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294436	1.00[AMR][1000 genomes]
rs12294506	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28669153	1.00[AMR][1000 genomes]

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	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
4	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv1049835	chr11:47837089-47928822	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv541036	chr11:47837089-47928822	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47790200-47869200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47847600-47868800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr11:47856600-47869200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:47865000-47869200	Weak transcription	Gastric	stomach
5	chr11:47865400-47869200	Weak transcription	Aorta	Aorta
6	chr11:47865600-47868800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:47865800-47868800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:47865800-47869400	Weak transcription	Spleen	Spleen
9	chr11:47866000-47869200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:47866000-47869200	Weak transcription	Esophagus	oesophagus
11	chr11:47866400-47869000	Weak transcription	Right Ventricle	heart
12	chr11:47866400-47869200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:47866600-47868800	Genic enhancers	Fetal Thymus	thymus
14	chr11:47866600-47869200	Weak transcription	Left Ventricle	heart
15	chr11:47867200-47868800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:47867200-47869200	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr11:47867200-47869200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr11:47867400-47868800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr11:47867400-47869000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:47867600-47869200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr11:47867600-47869200	Weak transcription	Lung	lung
22	chr11:47867600-47869200	Weak transcription	Ovary	ovary
23	chr11:47867600-47869400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:47867800-47868800	Enhancers	Thymus	Thymus
25	chr11:47867800-47869200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:47868000-47868800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:47868000-47868800	Enhancers	Brain Angular Gyrus	brain
28	chr11:47868000-47868800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:47868000-47869000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr11:47868000-47869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:47868000-47869000	Enhancers	Liver	Liver
32	chr11:47868000-47869000	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr11:47868000-47869000	Genic enhancers	HSMMtube	muscle
34	chr11:47868000-47869200	Enhancers	Brain Substantia Nigra	brain
35	chr11:47868200-47868800	Enhancers	Primary B cells from cord blood	blood
36	chr11:47868200-47868800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:47868200-47868800	Enhancers	Fetal Intestine Large	intestine
38	chr11:47868200-47868800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr11:47868200-47869000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
40	chr11:47868200-47869000	Flanking Active TSS	GM12878-XiMat	blood
41	chr11:47868200-47869200	Transcr. at gene 5' and 3'	Hela-S3	cervix
42	chr11:47868200-47869200	Flanking Active TSS	HepG2	liver
43	chr11:47868200-47870400	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr11:47868400-47868800	Enhancers	Primary hematopoietic stem cells	blood
45	chr11:47868400-47868800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr11:47868400-47868800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr11:47868400-47868800	Enhancers	Fetal Intestine Small	intestine
48	chr11:47868400-47868800	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr11:47868400-47868800	Transcr. at gene 5' and 3'	A549	lung
50	chr11:47868400-47868800	Enhancers	Monocytes-CD14+_RO01746	blood

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