Variant report

Variant	rs12275286
Chromosome Location	chr11:47642229-47642230
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47592171..47594206-chr11:47641460..47643719,2	MCF-7	breast:
2	chr11:47636685..47639301-chr11:47641827..47644526,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11039250	1.00[AMR][1000 genomes]
rs11039259	1.00[AMR][1000 genomes]
rs11039261	1.00[AMR][1000 genomes]
rs11039298	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039349	1.00[AMR][1000 genomes]
rs11039363	1.00[AMR][1000 genomes]
rs11039383	1.00[AMR][1000 genomes]
rs11039388	1.00[AMR][1000 genomes]
rs12270098	1.00[AMR][1000 genomes]
rs12271179	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272214	1.00[AMR][1000 genomes]
rs12277656	0.94[AFR][1000 genomes]
rs12282406	1.00[AMR][1000 genomes]
rs12283198	1.00[AMR][1000 genomes]
rs12284196	1.00[AMR][1000 genomes]
rs12286933	1.00[AMR][1000 genomes]
rs12288253	1.00[AMR][1000 genomes]
rs12289434	1.00[AMR][1000 genomes]
rs12293288	0.89[AFR][1000 genomes]
rs13377591	1.00[AMR][1000 genomes]
rs2233357	0.94[AFR][1000 genomes]
rs61978569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3460885	chr11:47640287-47644381	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3500025	chr11:47640335-47647353	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3500026	chr11:47640335-47647353	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3460896	chr11:47640365-47644346	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3460907	chr11:47640365-47644346	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47617600-47643200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:47621600-47647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:47627800-47643200	Weak transcription	Pancreas	Pancrea
4	chr11:47629800-47642400	Weak transcription	Colon Smooth Muscle	Colon
5	chr11:47630400-47648600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:47630400-47649600	Weak transcription	Fetal Heart	heart
7	chr11:47631200-47642400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:47633600-47647200	Weak transcription	Right Ventricle	heart
9	chr11:47635000-47642400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:47635400-47643200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:47635800-47643200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:47636600-47661400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:47636800-47653800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:47637000-47653400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:47637600-47648800	Strong transcription	Fetal Intestine Large	intestine
16	chr11:47637600-47650800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:47637600-47653200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:47637600-47653200	Strong transcription	Liver	Liver
19	chr11:47637600-47657200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr11:47637600-47660800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:47637600-47661200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:47637600-47663200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:47637800-47642400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:47637800-47653200	Strong transcription	Left Ventricle	heart
25	chr11:47637800-47660400	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:47637800-47661000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:47637800-47661000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:47638000-47661400	Strong transcription	Fetal Thymus	thymus
29	chr11:47638000-47661800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:47638200-47652800	Strong transcription	Hela-S3	cervix
31	chr11:47638200-47661200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr11:47638200-47661200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr11:47638200-47661600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:47638200-47661600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:47638400-47644400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:47638400-47644800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:47638400-47653400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr11:47638400-47653800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr11:47638400-47654000	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:47638400-47660400	Strong transcription	Dnd41	blood
41	chr11:47638400-47661200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:47638600-47643600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:47638600-47653600	Strong transcription	Primary B cells from cord blood	blood
44	chr11:47638600-47654000	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr11:47638600-47657200	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:47638800-47661600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:47639000-47651400	Strong transcription	K562	blood
48	chr11:47639000-47658000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:47639000-47661200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:47639000-47661400	Strong transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links