Variant report

Variant	rs12314651
Chromosome Location	chr12:122845128-122845129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122840952..122843725-chr12:122844619..122847505,2	K562	blood:
2	chr12:122844560..122846867-chr12:122883490..122885773,2	K562	blood:
3	chr12:122844498..122846289-chr12:122846699..122848624,2	MCF-7	breast:
4	chr12:122834378..122836810-chr12:122844782..122846418,2	K562	blood:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12297174	1.00[AMR][1000 genomes]
rs12297513	1.00[AMR][1000 genomes]
rs12300062	1.00[AMR][1000 genomes]
rs12303070	1.00[AMR][1000 genomes]
rs12303304	1.00[AMR][1000 genomes]
rs12305053	1.00[AMR][1000 genomes]
rs12312090	1.00[AMR][1000 genomes]
rs12319914	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320418	1.00[AMR][1000 genomes]
rs7294383	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7311062	0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs7959187	1.00[AMR][1000 genomes]
rs7966324	1.00[AMR][1000 genomes]
rs7972719	1.00[AMR][1000 genomes]
rs7976224	1.00[AMR][1000 genomes]
rs7976580	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7977242	0.89[LWK][hapmap];0.90[AMR][1000 genomes]
rs7980777	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122812800-122850600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:122818400-122852800	Weak transcription	Stomach Mucosa	stomach
3	chr12:122834400-122845400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:122837000-122851200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:122837600-122856000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:122838000-122868000	Weak transcription	Fetal Lung	lung
7	chr12:122838600-122852200	Weak transcription	Small Intestine	intestine
8	chr12:122839400-122850200	Weak transcription	Right Atrium	heart
9	chr12:122839600-122851400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:122839600-122861800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:122839600-122871000	Weak transcription	Fetal Kidney	kidney
12	chr12:122840000-122845200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:122840000-122845400	Weak transcription	Psoas Muscle	Psoas
14	chr12:122840000-122852000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:122840000-122861800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:122840000-122862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:122840200-122845400	Weak transcription	Aorta	Aorta
18	chr12:122840200-122851000	Weak transcription	NH-A	brain
19	chr12:122840200-122857800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:122840600-122845200	Weak transcription	Brain Angular Gyrus	brain
21	chr12:122840800-122845200	Weak transcription	Brain Substantia Nigra	brain
22	chr12:122840800-122845200	Weak transcription	HSMM	muscle
23	chr12:122841000-122845800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:122841000-122872600	Weak transcription	Fetal Brain Male	brain
25	chr12:122841200-122845400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:122841200-122845400	Weak transcription	Gastric	stomach
27	chr12:122841200-122845400	Weak transcription	K562	blood
28	chr12:122841200-122845800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:122841200-122847600	Weak transcription	Esophagus	oesophagus
30	chr12:122843000-122846600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:122843000-122846600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:122843000-122846800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:122843000-122848800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:122843000-122848800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:122843000-122849000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr12:122843000-122849200	Strong transcription	Placenta	Placenta
37	chr12:122843200-122846200	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr12:122843200-122849000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:122843200-122849200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:122843400-122846000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:122843400-122846000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr12:122843400-122846400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:122843400-122846400	Strong transcription	Ovary	ovary
44	chr12:122843400-122846400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:122843400-122846600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:122843400-122846600	Strong transcription	Left Ventricle	heart
47	chr12:122843400-122848800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr12:122843400-122848800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:122843400-122851000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:122843600-122846200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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