Variant report

Variant	rs11465943
Chromosome Location	chr12:66584558-66584559
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66575489..66578360-chr12:66583089..66585352,2	K562	blood:
2	chr12:66583600..66585977-chr12:66589320..66590902,2	MCF-7	breast:
3	chr12:66578489..66581069-chr12:66583580..66586870,3	K562	blood:
4	chr12:66570661..66572865-chr12:66583805..66585652,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7955998	0.87[AFR][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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv541516	chr12:66547969-66596036	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv899215	chr12:66556960-66594134	Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	n/a
6	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66582400-66584600	Active TSS	NHDF-Ad	bronchial
2	chr12:66582400-66585400	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr12:66582400-66586000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:66582800-66584800	Active TSS	Right Atrium	heart
5	chr12:66583000-66584600	Active TSS	Primary monocytes fromperipheralblood	blood
6	chr12:66583000-66584600	Active TSS	Brain Hippocampus Middle	brain
7	chr12:66583000-66584600	Active TSS	Stomach Smooth Muscle	stomach
8	chr12:66583000-66584600	Active TSS	GM12878-XiMat	blood
9	chr12:66583200-66584600	Active TSS	Brain Anterior Caudate	brain
10	chr12:66583200-66584800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
11	chr12:66583200-66584800	Active TSS	Right Ventricle	heart
12	chr12:66583400-66584600	Active TSS	Psoas Muscle	Psoas
13	chr12:66583400-66585000	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr12:66583400-66585200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:66583400-66585600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:66583400-66586000	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr12:66583600-66584600	Weak transcription	Gastric	stomach
18	chr12:66583600-66584600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:66583600-66584800	Weak transcription	Lung	lung
20	chr12:66583600-66584800	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr12:66583600-66585000	Weak transcription	Pancreas	Pancrea
22	chr12:66583600-66585200	Weak transcription	Spleen	Spleen
23	chr12:66583600-66585400	Weak transcription	Esophagus	oesophagus
24	chr12:66583600-66585400	Weak transcription	Ovary	ovary
25	chr12:66583600-66585600	Enhancers	Brain Germinal Matrix	brain
26	chr12:66583600-66585800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr12:66583600-66589000	Weak transcription	Brain Substantia Nigra	brain
28	chr12:66583600-66589000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:66583600-66591400	Weak transcription	Osteobl	bone
30	chr12:66583800-66584800	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:66583800-66584800	Weak transcription	Left Ventricle	heart
32	chr12:66583800-66589000	Weak transcription	Placenta	Placenta
33	chr12:66583800-66593000	Weak transcription	Aorta	Aorta
34	chr12:66583800-66623400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:66584000-66584800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr12:66584000-66585000	Weak transcription	Fetal Kidney	kidney
37	chr12:66584200-66585000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:66584200-66585600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr12:66584200-66585600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:66584200-66586000	Active TSS	Primary B cells from cord blood	blood
41	chr12:66584400-66584600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:66584400-66584600	Flanking Active TSS	Stomach Mucosa	stomach
43	chr12:66584400-66584600	Active TSS	Monocytes-CD14+_RO01746	blood
44	chr12:66584400-66585000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:66584400-66585400	Enhancers	HUVEC	blood vessel
46	chr12:66584400-66585600	Enhancers	Fetal Muscle Leg	muscle
47	chr12:66584400-66585800	Flanking Active TSS	Fetal Lung	lung
48	chr12:66584400-66588800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links