Variant report

Variant	rs762810
Chromosome Location	chr14:65544367-65544368
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:65543090-65544789	K562	blood:	n/a	n/a
2	POLR2A	chr14:65544161-65544403	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65542410..65545761-chr14:65567808..65570933,3	MCF-7	breast:
2	chr14:65534580..65538429-chr14:65542386..65544897,3	K562	blood:
3	chr14:65529831..65531820-chr14:65543352..65545636,2	K562	blood:
4	chr14:65542480..65545199-chr14:65545922..65548656,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB15-2	chr14:65543911-65544754	NONHSAT037367

No data

Variant related genes	Relation type
ENSG00000259118	TF binding region
ENSG00000125952	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11158572	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11158573	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11158574	0.90[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11625045	1.00[ASW][hapmap];0.87[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11626156	0.81[ASN][1000 genomes]
rs11627382	0.84[MEX][hapmap]
rs12147959	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1256417	0.80[EUR][1000 genomes]
rs1270074	0.83[EUR][1000 genomes]
rs1271582	0.84[EUR][1000 genomes]
rs12880781	0.87[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12887607	0.83[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12888794	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12893404	0.87[ASN][1000 genomes]
rs17825846	1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[ASN][1000 genomes]
rs1953228	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1957948	0.81[EUR][1000 genomes]
rs1998688	0.80[EUR][1000 genomes]
rs2093989	0.85[EUR][1000 genomes]
rs35176994	0.83[ASN][1000 genomes]
rs35769504	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3783720	0.91[ASW][hapmap];0.82[MEX][hapmap]
rs45604339	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899160	0.90[ASW][hapmap];0.84[MEX][hapmap]
rs4899161	0.92[MEX][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4902357	0.82[EUR][1000 genomes]
rs4902358	1.00[ASW][hapmap];0.87[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902359	0.83[EUR][1000 genomes]
rs4902360	0.85[EUR][1000 genomes]
rs4902361	0.86[EUR][1000 genomes]
rs55658675	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7143495	1.00[ASW][hapmap];0.87[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7144259	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7150646	0.83[EUR][1000 genomes]
rs7154852	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7156617	0.92[MEX][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7159443	0.80[EUR][1000 genomes]
rs7160037	0.91[ASW][hapmap];0.84[MEX][hapmap]
rs7161394	0.87[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8004805	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs8009396	0.80[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8009714	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8010213	0.80[EUR][1000 genomes]
rs8181937	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8181938	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8181939	0.90[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs868814	0.82[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.81[ASN][1000 genomes]
rs884683	0.86[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs942626	0.80[EUR][1000 genomes]
rs942627	0.87[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs942628	0.80[EUR][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	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

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs762810	MAX	cis	frontal cortex	BrainEAC
rs762810	MAX	cis	cerebellar cortex	BrainEAC
rs762810	GPX2	cis	cerebellum	SCAN
rs762810	MAX	cis	parietal	SCAN
rs762810	MAX	cis	inferior olivary nucleus	BrainEAC
rs762810	MAX	cis	intralobular white matter	BrainEAC
rs762810	MAX	cis	temporal cortex	BrainEAC
rs762810	MAX	cis	substantia nigra	BrainEAC
rs762810	RAB15	cis	cerebellum	SCAN
rs762810	RAB15	cis	lymphoblastoid	seeQTL
rs762810	MAX	cis	thalamus	BrainEAC
rs762810	SIX4	cis	cerebellum	SCAN
rs762810	MAX	cis	occipital cortex	BrainEAC
rs762810	MAX	cis	brain	BrainEAC
rs762810	CHURC1	cis	parietal	SCAN
rs762810	MAX	cis	cerebellum	SCAN
rs762810	MAX	cis	putamen	BrainEAC
rs762810	WDR89	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65471200-65546200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:65527600-65545600	Strong transcription	Primary T cells from cord blood	blood
3	chr14:65527800-65553600	Strong transcription	Dnd41	blood
4	chr14:65528800-65555400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:65530000-65553000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:65534000-65553600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:65534600-65546000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:65534800-65553400	Strong transcription	Thymus	Thymus
9	chr14:65535600-65545600	Strong transcription	Fetal Stomach	stomach
10	chr14:65535600-65547000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:65536000-65553600	Strong transcription	Fetal Thymus	thymus
12	chr14:65538200-65544600	Strong transcription	HSMM	muscle
13	chr14:65538400-65545000	Strong transcription	GM12878-XiMat	blood
14	chr14:65538400-65545600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr14:65538600-65547000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:65538600-65547000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:65538800-65545600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:65538800-65553600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:65538800-65562000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:65539000-65544800	Strong transcription	Fetal Brain Female	brain
21	chr14:65539000-65551000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:65539000-65562400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:65539200-65545400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:65539200-65548800	Strong transcription	NHEK	skin
25	chr14:65539200-65550800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr14:65539200-65551400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:65539400-65545000	Strong transcription	NHLF	lung
28	chr14:65539400-65551000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:65539400-65552400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:65539600-65547200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:65539600-65547400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr14:65539600-65563200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:65539800-65544800	Genic enhancers	Left Ventricle	heart
34	chr14:65539800-65547200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:65539800-65547400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:65539800-65553200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:65540000-65546000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:65540200-65544800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:65540400-65545000	Strong transcription	Brain Germinal Matrix	brain
40	chr14:65540400-65548000	Strong transcription	Osteobl	bone
41	chr14:65541000-65544600	Strong transcription	NHDF-Ad	bronchial
42	chr14:65541000-65551600	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr14:65541200-65544800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:65541200-65544800	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr14:65541200-65545400	Strong transcription	Stomach Smooth Muscle	stomach
46	chr14:65541600-65551000	Strong transcription	NH-A	brain
47	chr14:65541600-65552400	Strong transcription	Hela-S3	cervix
48	chr14:65541800-65544600	Strong transcription	Fetal Intestine Small	intestine
49	chr14:65541800-65544800	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr14:65541800-65545600	Weak transcription	Fetal Heart	heart

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