Variant report

Variant	rs7912686
Chromosome Location	chr10:97026458-97026459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:97023957..97026874-chr10:97030558..97032855,2	MCF-7	breast:
2	chr10:97004085..97006971-chr10:97024831..97027710,2	K562	blood:
3	chr10:97023872..97028051-chr10:97048144..97051430,5	K562	blood:
4	chr10:97025143..97028051-chr10:97049212..97051430,3	K562	blood:
5	chr10:97019193..97020732-chr10:97024741..97026574,2	K562	blood:

Variant related genes	Relation type
ENSG00000107438	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10509685	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11872	0.85[CHB][hapmap]
rs12765981	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12769370	1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12783709	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17453729	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17453764	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17453855	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17526000	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1854338	0.84[ASN][1000 genomes]
rs2296964	1.00[CHB][hapmap]
rs34976996	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35777379	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35830045	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45444597	0.84[ASN][1000 genomes]
rs45447693	0.84[ASN][1000 genomes]
rs45493292	0.92[ASN][1000 genomes]
rs45498798	0.92[ASN][1000 genomes]
rs45518536	0.88[ASN][1000 genomes]
rs45533831	0.88[ASN][1000 genomes]
rs45554238	0.92[ASN][1000 genomes]
rs45555036	0.84[ASN][1000 genomes]
rs45562941	0.92[ASN][1000 genomes]
rs45569042	0.88[ASN][1000 genomes]
rs45591738	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7912686	PI4K2A	cis	cerebellum	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96998400-97030200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:97009200-97028200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr10:97016800-97036000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr10:97018800-97030000	Weak transcription	Thymus	Thymus
5	chr10:97020000-97026600	Genic enhancers	Fetal Intestine Large	intestine
6	chr10:97020200-97026600	Genic enhancers	Fetal Intestine Small	intestine
7	chr10:97020200-97026600	Enhancers	Right Atrium	heart
8	chr10:97020400-97027000	Genic enhancers	HepG2	liver
9	chr10:97021000-97026600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:97021000-97034400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr10:97021200-97026600	Genic enhancers	NHEK	skin
12	chr10:97021400-97036400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr10:97021600-97027800	Weak transcription	HSMM	muscle
14	chr10:97022000-97027400	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr10:97023000-97026800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
16	chr10:97023200-97028200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr10:97023200-97029200	Genic enhancers	HMEC	breast
18	chr10:97023200-97033000	Weak transcription	Psoas Muscle	Psoas
19	chr10:97023400-97028200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr10:97023800-97028800	Weak transcription	Fetal Muscle Leg	muscle
21	chr10:97024200-97029000	Enhancers	Stomach Mucosa	stomach
22	chr10:97024200-97033000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:97024400-97027400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:97024400-97028200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:97024400-97028200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr10:97024400-97028200	Weak transcription	Gastric	stomach
27	chr10:97024400-97035000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr10:97024600-97026600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr10:97024600-97029800	Weak transcription	Osteobl	bone
30	chr10:97024800-97028000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr10:97024800-97028200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:97024800-97028200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:97024800-97049400	Weak transcription	Fetal Kidney	kidney
34	chr10:97025000-97027600	Weak transcription	NHDF-Ad	bronchial
35	chr10:97025000-97028000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:97025000-97028200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr10:97025400-97026600	Genic enhancers	Left Ventricle	heart
38	chr10:97025400-97029200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr10:97025600-97026600	Genic enhancers	Rectal Mucosa Donor 31	rectum
40	chr10:97025600-97026600	Enhancers	Small Intestine	intestine
41	chr10:97025600-97026800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr10:97025600-97026800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr10:97025600-97026800	Enhancers	Right Ventricle	heart
44	chr10:97025800-97027000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr10:97026000-97026600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:97026000-97026600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr10:97026000-97026600	Strong transcription	HSMMtube	muscle
48	chr10:97026000-97026800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr10:97026000-97026800	Strong transcription	GM12878-XiMat	blood
50	chr10:97026000-97026800	Enhancers	NHLF	lung

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