Variant report

Variant	rs11061016
Chromosome Location	chr12:123445796-123445797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123444682..123447187-chr12:123459178..123461063,2	K562	blood:
2	chr12:123379351..123381888-chr12:123445656..123447489,2	MCF-7	breast:
3	chr12:123445391..123447218-chr12:123635321..123636848,2	K562	blood:
4	chr12:123444883..123447117-chr12:123541287..123543838,2	MCF-7	breast:
5	chr12:123443368..123448710-chr12:123448756..123452152,6	MCF-7	breast:
6	chr12:123445391..123447327-chr12:123634369..123636848,2	K562	blood:
7	chr12:123321291..123323892-chr12:123444965..123447071,2	MCF-7	breast:
8	chr12:123341133..123343388-chr12:123444809..123447467,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000139722	Chromatin interaction
ENSG00000256028	Chromatin interaction
ENSG00000150967	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11057167	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11057171	1.00[AMR][1000 genomes]
rs11057173	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11057182	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11057186	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11060406	1.00[AMR][1000 genomes]
rs11060703	0.95[EUR][1000 genomes]
rs11060765	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11060942	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061244	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061275	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061613	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11061615	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12368208	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12371718	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12372667	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2343106	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2844287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36004829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs484200	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs523682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56347904	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61751326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7488814	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv899577	chr12:123435248-123484474	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123412800-123449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:123413400-123449600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:123413600-123450000	Weak transcription	Primary T cells from cord blood	blood
4	chr12:123417600-123446200	Weak transcription	Fetal Lung	lung
5	chr12:123432200-123446000	Weak transcription	Right Atrium	heart
6	chr12:123432200-123446000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:123432200-123446000	Weak transcription	K562	blood
8	chr12:123432200-123450000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:123432200-123450200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:123432400-123448200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:123432400-123449600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:123432400-123450000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:123432600-123448200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:123432600-123450000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:123436400-123448000	Weak transcription	HepG2	liver
16	chr12:123436600-123446000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:123436600-123446000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:123436600-123449400	Weak transcription	NHDF-Ad	bronchial
19	chr12:123436800-123446200	Weak transcription	A549	lung
20	chr12:123436800-123448600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:123437000-123446000	Weak transcription	Hela-S3	cervix
22	chr12:123437200-123445800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:123437200-123449800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:123437400-123446000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:123437400-123447200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:123437400-123449800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:123437600-123445800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr12:123437600-123446800	Weak transcription	Brain Angular Gyrus	brain
29	chr12:123437600-123447000	Weak transcription	Fetal Thymus	thymus
30	chr12:123437800-123446400	Weak transcription	Colonic Mucosa	Colon
31	chr12:123439600-123450200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:123440000-123446000	Weak transcription	HSMMtube	muscle
33	chr12:123440000-123448000	Weak transcription	HSMM	muscle
34	chr12:123440000-123450000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:123440400-123446600	Weak transcription	Small Intestine	intestine
36	chr12:123441400-123450200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:123442000-123446000	Weak transcription	Left Ventricle	heart
38	chr12:123442200-123445800	Weak transcription	Fetal Brain Male	brain
39	chr12:123442600-123448800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:123443000-123447000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:123443200-123448200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:123443800-123450400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:123444000-123450000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:123444600-123448200	Weak transcription	HMEC	breast
45	chr12:123444600-123448600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:123444800-123446000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:123444800-123446000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr12:123444800-123446000	Weak transcription	Pancreas	Pancrea
49	chr12:123444800-123446600	Weak transcription	Placenta	Placenta
50	chr12:123444800-123446600	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links