Variant report

Variant	rs17762733
Chromosome Location	chr14:56664849-56664850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56662437..56665407-chr14:56673840..56677281,3	K562	blood:
2	chr14:56643728..56646285-chr14:56664453..56666938,2	K562	blood:
3	chr14:56660081..56671301-chr14:56679407..56688474,29	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10144612	0.91[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs10483656	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs1427556	0.91[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.89[MEX][hapmap]
rs17688725	0.81[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17688801	0.90[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs17689278	0.90[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17761563	1.00[CHD][hapmap];0.81[GIH][hapmap]
rs17762499	0.90[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17832675	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1951955	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2035283	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2343376	0.90[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28712711	0.84[EUR][1000 genomes]
rs2880615	0.90[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs3850298	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3912203	0.81[CEU][hapmap];0.94[EUR][1000 genomes]
rs4127813	0.81[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8020301	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17762733	GCH1	cis	cerebellum	SCAN
rs17762733	MAPK1IP1L	cis	cerebellum	SCAN
rs17762733	CGRRF1	cis	cerebellum	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56648200-56665400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:56649800-56674600	Weak transcription	Aorta	Aorta
3	chr14:56656800-56672200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:56660000-56666000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:56660000-56666600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:56660400-56665400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr14:56662400-56665400	Enhancers	A549	lung
8	chr14:56662400-56667200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:56662400-56667200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:56662600-56665000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:56662600-56665000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr14:56662600-56666200	Weak transcription	HSMMtube	muscle
13	chr14:56662600-56666800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:56662600-56667200	Weak transcription	Brain Angular Gyrus	brain
15	chr14:56662600-56667800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:56662600-56668800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr14:56662600-56670600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:56662600-56672200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:56662600-56672200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:56662600-56677600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:56662600-56693000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:56662800-56665000	Weak transcription	Gastric	stomach
23	chr14:56662800-56665000	Weak transcription	Left Ventricle	heart
24	chr14:56662800-56665000	Weak transcription	Lung	lung
25	chr14:56662800-56665200	Weak transcription	HUVEC	blood vessel
26	chr14:56662800-56665400	Weak transcription	Brain Substantia Nigra	brain
27	chr14:56662800-56666200	Weak transcription	Adipose Nuclei	Adipose
28	chr14:56662800-56666400	Weak transcription	Stomach Mucosa	stomach
29	chr14:56662800-56666600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:56662800-56666600	Weak transcription	Psoas Muscle	Psoas
31	chr14:56662800-56666600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr14:56662800-56667200	Weak transcription	Brain Anterior Caudate	brain
33	chr14:56662800-56669800	Weak transcription	Fetal Intestine Large	intestine
34	chr14:56662800-56671800	Weak transcription	Spleen	Spleen
35	chr14:56662800-56672200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:56662800-56672400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:56662800-56677400	Weak transcription	Right Atrium	heart
38	chr14:56662800-56683400	Weak transcription	Fetal Stomach	stomach
39	chr14:56663000-56665000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr14:56663000-56665000	Weak transcription	NHLF	lung
41	chr14:56663000-56665800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr14:56663000-56666000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr14:56663000-56666400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr14:56663200-56665000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:56663200-56665000	Weak transcription	K562	blood
46	chr14:56663200-56665200	Weak transcription	GM12878-XiMat	blood
47	chr14:56663200-56665200	Weak transcription	Hela-S3	cervix
48	chr14:56663200-56665200	Weak transcription	HSMM	muscle
49	chr14:56663200-56666200	Weak transcription	Fetal Intestine Small	intestine
50	chr14:56663200-56666200	Weak transcription	Rectal Mucosa Donor 31	rectum

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