Variant report

Variant	rs12889770
Chromosome Location	chr14:68871549-68871550
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68870989..68872016-chr14:68925489..68926072,5	MCF-7	breast:
2	chr14:68863838..68866613-chr14:68869983..68873336,6	MCF-7	breast:
3	chr14:68858725..68872867-chr14:69250734..69263104,36	MCF-7	breast:
4	chr14:68870989..68872131-chr14:68925489..68926072,7	MCF-7	breast:
5	chr14:68871074..68871904-chr14:69036575..69037371,3	MCF-7	breast:
6	chr14:68869686..68872632-chr14:68873283..68875194,2	MCF-7	breast:
7	chr14:68871059..68871610-chr14:69036791..69037302,2	MCF-7	breast:
8	chr14:68773440..68776404-chr14:68870771..68875059,3	MCF-7	breast:
9	chr14:68871110..68871972-chr14:69036474..69037372,4	MCF-7	breast:
10	chr14:68866618..68869023-chr14:68869534..68873462,3	K562	blood:
11	chr14:68740317..68742420-chr14:68870103..68871791,2	MCF-7	breast:
12	chr14:68870904..68872882-chr14:68924657..68927546,2	MCF-7	breast:
13	chr14:68870800..68874143-chr14:68877042..68880241,3	MCF-7	breast:
14	chr14:68867029..68869423-chr14:68870114..68872143,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182185	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1006816	0.91[CEU][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10132294	0.90[GIH][hapmap];0.91[MEX][hapmap]
rs10136055	0.90[MEX][hapmap]
rs10146058	0.83[GIH][hapmap]
rs10146321	0.86[CHB][hapmap];0.95[GIH][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs10150212	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11158734	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11158735	0.80[ASN][1000 genomes]
rs11158736	0.82[ASN][1000 genomes]
rs11158743	0.90[MEX][hapmap]
rs11625452	0.83[JPT][hapmap]
rs12432583	0.81[CEU][hapmap]
rs12587397	0.80[MEX][hapmap]
rs12717531	0.89[GIH][hapmap];0.90[MEX][hapmap]
rs12886429	0.83[GIH][hapmap];0.80[MEX][hapmap]
rs12889666	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12890360	0.80[CEU][hapmap]
rs12894080	0.81[CEU][hapmap];0.80[MEX][hapmap]
rs12898087	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17105573	0.87[MKK][hapmap]
rs1956536	0.84[ASN][1000 genomes]
rs1956537	0.91[CEU][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2331694	0.81[CEU][hapmap]
rs2331696	0.83[JPT][hapmap]
rs3784116	0.90[CHD][hapmap];0.95[JPT][hapmap]
rs3784117	0.81[CEU][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap]
rs3784119	0.82[JPT][hapmap]
rs3784120	0.91[CEU][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.82[ASN][1000 genomes]
rs3784122	0.90[MEX][hapmap]
rs4902576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902577	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014025	0.82[JPT][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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12889770	ZFYVE26	cis	cerebellum	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68863600-68877200	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:68864400-68874400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr14:68864800-68874200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr14:68864800-68878000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:68865000-68872400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:68865000-68877000	Weak transcription	Pancreas	Pancrea
7	chr14:68865800-68874600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr14:68866200-68873200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr14:68866400-68873400	Enhancers	HMEC	breast
10	chr14:68866600-68871800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr14:68866600-68872200	Enhancers	Fetal Thymus	thymus
12	chr14:68866600-68873000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:68866600-68873400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr14:68866800-68871800	Enhancers	Fetal Lung	lung
15	chr14:68866800-68872200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr14:68866800-68873400	Enhancers	NHLF	lung
17	chr14:68867200-68871600	Enhancers	Fetal Kidney	kidney
18	chr14:68867200-68871800	Enhancers	Fetal Heart	heart
19	chr14:68867200-68874400	Weak transcription	Fetal Intestine Large	intestine
20	chr14:68867200-68875200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:68867200-68876200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:68867200-68876400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr14:68867200-68886400	Weak transcription	Dnd41	blood
24	chr14:68867400-68872800	Weak transcription	HSMM	muscle
25	chr14:68867400-68874200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:68867800-68871800	Enhancers	Ovary	ovary
27	chr14:68868000-68872200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:68868000-68872600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr14:68868200-68874600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:68868200-68887200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr14:68868400-68871800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr14:68868400-68874600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:68868400-68876000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:68868600-68873400	Enhancers	Primary T cells from cord blood	blood
35	chr14:68869000-68871800	Enhancers	Colon Smooth Muscle	Colon
36	chr14:68869000-68873600	Weak transcription	Fetal Intestine Small	intestine
37	chr14:68869200-68873200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:68869400-68873400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:68869600-68873000	Enhancers	Osteobl	bone
40	chr14:68869600-68873200	Enhancers	NHDF-Ad	bronchial
41	chr14:68869800-68873400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:68869800-68873400	Enhancers	NHEK	skin
43	chr14:68870000-68872000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr14:68870000-68872600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr14:68870200-68871600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr14:68870200-68871800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr14:68870200-68871800	Enhancers	A549	lung
48	chr14:68870200-68872000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr14:68870200-68872000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr14:68870200-68873400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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