Variant report

Variant	rs12963114
Chromosome Location	chr18:9156350-9156351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9139215..9141477-chr18:9155271..9156901,2	K562	blood:
2	chr18:9114265..9115952-chr18:9154606..9156860,2	K562	blood:
3	chr18:9150679..9153194-chr18:9154073..9157031,2	K562	blood:

Variant related genes	Relation type
ENSG00000263847	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12964485	0.92[CEU][hapmap];0.80[GIH][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap]
rs7238828	0.89[GIH][hapmap];1.00[JPT][hapmap]
rs7506347	1.00[JPT][hapmap]
rs9946176	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs998172	1.00[CEU][hapmap];1.00[TSI][hapmap]

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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv543641	chr18:9120450-9181498	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv543642	chr18:9133164-9191739	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12963114	ANKRD12	cis	brain	BrainEAC

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9138200-9162200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:9140000-9162000	Weak transcription	Thymus	Thymus
3	chr18:9140000-9163000	Weak transcription	Fetal Intestine Large	intestine
4	chr18:9140800-9160200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr18:9141600-9161000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr18:9142400-9174000	Weak transcription	HSMMtube	muscle
7	chr18:9143800-9159000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr18:9146600-9174000	Weak transcription	Esophagus	oesophagus
9	chr18:9147800-9163000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr18:9147800-9165200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:9148000-9159400	Weak transcription	Fetal Stomach	stomach
12	chr18:9148000-9159800	Weak transcription	Fetal Intestine Small	intestine
13	chr18:9148000-9160800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr18:9148000-9161800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr18:9148000-9171400	Weak transcription	NHDF-Ad	bronchial
16	chr18:9148000-9173800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr18:9148200-9159400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr18:9148200-9161800	Weak transcription	Fetal Kidney	kidney
19	chr18:9148200-9162800	Weak transcription	Dnd41	blood
20	chr18:9148200-9162800	Weak transcription	Hela-S3	cervix
21	chr18:9148200-9164000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr18:9148200-9173800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr18:9148400-9156400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:9148400-9187200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr18:9148800-9158000	Weak transcription	Brain Anterior Caudate	brain
26	chr18:9149200-9160600	Weak transcription	Brain Angular Gyrus	brain
27	chr18:9149400-9157000	Weak transcription	K562	blood
28	chr18:9149800-9158800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr18:9150400-9161600	Weak transcription	HSMM	muscle
30	chr18:9150400-9173200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr18:9151000-9159200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr18:9151400-9159000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr18:9151400-9173800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr18:9151600-9160600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr18:9151800-9174000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr18:9152200-9162000	Weak transcription	Fetal Muscle Leg	muscle
37	chr18:9152400-9160400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr18:9152800-9160400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr18:9153200-9158400	Weak transcription	Small Intestine	intestine
40	chr18:9153200-9161400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr18:9153400-9158000	Weak transcription	Stomach Mucosa	stomach
42	chr18:9153400-9160400	Weak transcription	Brain Hippocampus Middle	brain
43	chr18:9153600-9157000	Weak transcription	HepG2	liver
44	chr18:9153600-9157200	Weak transcription	Primary T cells from cord blood	blood
45	chr18:9153600-9158000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr18:9153600-9160400	Weak transcription	Colon Smooth Muscle	Colon
47	chr18:9153600-9160400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr18:9153600-9182400	Weak transcription	Liver	Liver
49	chr18:9153600-9185000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr18:9153800-9159000	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links