Variant report

Variant	rs11832508
Chromosome Location	chr12:62863515-62863516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62859623..62861378-chr12:62862535..62864580,2	K562	blood:
2	chr12:62863210..62865017-chr12:62887916..62890399,2	K562	blood:
3	chr12:62863411..62864986-chr12:62871030..62872716,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000061987	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10735906	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10747964	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10747967	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10784297	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10784298	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10784300	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10784301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10784304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877850	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10877854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11615669	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12298863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1498714	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1603823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2029938	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2132648	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4025987	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4763022	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4763023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4763171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6581450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7132677	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7132765	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7133906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7135044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7135893	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7136794	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7298046	0.82[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7303357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7954432	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7963346	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7963544	0.96[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7964563	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7968424	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7978740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs924169	0.95[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv899158	chr12:62783967-62937259	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62859400-62863600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:62860000-62863600	Active TSS	GM12878-XiMat	blood
3	chr12:62861600-62864800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:62861600-62865800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:62861600-62866600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:62861800-62863600	Enhancers	Primary B cells from cord blood	blood
7	chr12:62861800-62863600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:62861800-62864000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:62861800-62864600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr12:62861800-62864800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr12:62861800-62865000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:62861800-62879800	Weak transcription	HSMMtube	muscle
13	chr12:62861800-62902200	Weak transcription	Fetal Kidney	kidney
14	chr12:62862200-62864000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:62862200-62864400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:62862200-62864600	Enhancers	Liver	Liver
17	chr12:62862400-62863600	Enhancers	Brain Substantia Nigra	brain
18	chr12:62862600-62863600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:62862600-62863600	Enhancers	Colon Smooth Muscle	Colon
20	chr12:62862600-62864000	Enhancers	Small Intestine	intestine
21	chr12:62862800-62867200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:62862800-62895400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:62863000-62863600	Enhancers	Fetal Intestine Large	intestine
24	chr12:62863000-62863600	Enhancers	NHEK	skin
25	chr12:62863000-62864400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:62863000-62869400	Weak transcription	Fetal Intestine Small	intestine
27	chr12:62863200-62863600	Active TSS	Muscle Satellite Cultured Cells	--
28	chr12:62863200-62863600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:62863200-62863800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:62863200-62864000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:62863200-62864000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr12:62863200-62864000	Enhancers	Primary T cells from cord blood	blood
33	chr12:62863200-62864000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:62863200-62864000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:62863200-62864000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr12:62863200-62864000	Enhancers	Right Atrium	heart
37	chr12:62863200-62864000	Enhancers	HMEC	breast
38	chr12:62863200-62864400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr12:62863200-62864400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr12:62863200-62864400	Weak transcription	HSMM	muscle
41	chr12:62863200-62864600	Enhancers	Adipose Nuclei	Adipose
42	chr12:62863200-62864800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr12:62863200-62864800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:62863200-62864800	Weak transcription	Fetal Thymus	thymus
45	chr12:62863200-62865000	Weak transcription	Fetal Stomach	stomach
46	chr12:62863200-62865000	Weak transcription	Left Ventricle	heart
47	chr12:62863200-62865600	Weak transcription	Right Ventricle	heart
48	chr12:62863200-62865800	Weak transcription	Aorta	Aorta
49	chr12:62863200-62866000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:62863200-62866000	Weak transcription	NHLF	lung

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