Variant report

Variant	rs12588378
Chromosome Location	chr14:65524000-65524001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65517563..65520454-chr14:65521693..65524951,3	MCF-7	breast:
2	chr14:65521820..65524222-chr14:65777692..65780130,2	K562	blood:

Variant related genes	Relation type
ENSG00000257365	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10130343	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10135220	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10142987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.90[TSI][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10146165	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10149182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11848817	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1953233	0.82[CHB][hapmap]
rs2277500	0.84[GIH][hapmap]
rs28648456	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28886684	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55877000	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55896900	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7151272	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7152879	0.86[CHB][hapmap];0.84[GIH][hapmap]
rs7153893	0.82[CHB][hapmap]
rs73270871	0.94[ASN][1000 genomes]
rs8007110	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8007538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8011293	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs8181931	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs945013	0.82[CHB][hapmap]

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	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65470400-65539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:65471200-65546200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:65483400-65528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:65501800-65543200	Weak transcription	Fetal Brain Male	brain
5	chr14:65508200-65530800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:65508400-65527800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:65508400-65527800	Weak transcription	Colonic Mucosa	Colon
8	chr14:65508400-65528000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr14:65508600-65530800	Weak transcription	NHDF-Ad	bronchial
10	chr14:65508600-65542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:65509600-65528000	Weak transcription	Fetal Kidney	kidney
12	chr14:65510200-65527800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr14:65511600-65528600	Weak transcription	NH-A	brain
14	chr14:65511800-65527800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:65514600-65527600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:65514600-65527600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:65514600-65527600	Weak transcription	GM12878-XiMat	blood
18	chr14:65514800-65527800	Weak transcription	Colon Smooth Muscle	Colon
19	chr14:65514800-65536200	Weak transcription	Small Intestine	intestine
20	chr14:65515200-65528000	Weak transcription	HUVEC	blood vessel
21	chr14:65515200-65528600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:65515200-65530000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:65515400-65527800	Weak transcription	Hela-S3	cervix
24	chr14:65515400-65527800	Weak transcription	NHEK	skin
25	chr14:65515600-65527800	Weak transcription	HMEC	breast
26	chr14:65517200-65524000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr14:65517400-65527800	Weak transcription	Stomach Mucosa	stomach
28	chr14:65519000-65526000	Strong transcription	Primary T cells from cord blood	blood
29	chr14:65519200-65524000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr14:65519200-65524000	Strong transcription	Fetal Intestine Large	intestine
31	chr14:65519400-65524000	Strong transcription	Brain Hippocampus Middle	brain
32	chr14:65519600-65524000	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:65519600-65524000	Strong transcription	Thymus	Thymus
34	chr14:65519600-65524200	Strong transcription	Fetal Muscle Leg	muscle
35	chr14:65519600-65524200	Strong transcription	Fetal Stomach	stomach
36	chr14:65519600-65524400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:65519600-65524800	Strong transcription	HepG2	liver
38	chr14:65519600-65525000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr14:65519600-65526400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:65519600-65529000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr14:65519800-65524000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr14:65520000-65524000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:65520000-65524200	Strong transcription	Fetal Intestine Small	intestine
44	chr14:65520000-65524800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr14:65520200-65524000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr14:65520800-65524400	Strong transcription	Brain Germinal Matrix	brain
47	chr14:65521000-65524000	Strong transcription	Adipose Nuclei	Adipose
48	chr14:65521000-65524800	Strong transcription	Fetal Lung	lung
49	chr14:65521000-65526600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:65521200-65524000	Strong transcription	Liver	Liver

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