Variant report

Variant	rs1275690
Chromosome Location	chr14:69813370-69813371
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69808591..69811253-chr14:69813136..69815763,3	MCF-7	breast:
2	chr14:69813202..69813855-chr14:69926762..69927557,4	MCF-7	breast:
3	chr14:69810899..69813895-chr14:69838816..69841338,2	MCF-7	breast:
4	chr14:69765777..69766916-chr14:69812899..69814107,5	MCF-7	breast:
5	chr14:69811705..69814388-chr14:69822919..69825901,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1275681	0.83[JPT][hapmap]
rs1275687	0.80[EUR][1000 genomes]
rs1275691	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12879377	0.83[JPT][hapmap]
rs12894211	0.83[JPT][hapmap]
rs1290036	0.81[EUR][1000 genomes]

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	nsv456334	chr14:69793624-69831037	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv564966	chr14:69793624-69831037	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1275690	GPX2	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69791000-69817400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:69793400-69818800	Weak transcription	Spleen	Spleen
3	chr14:69793400-69821200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:69793400-69822600	Weak transcription	Brain Angular Gyrus	brain
5	chr14:69800800-69815200	Weak transcription	Brain Germinal Matrix	brain
6	chr14:69800800-69821800	Weak transcription	Brain Hippocampus Middle	brain
7	chr14:69803400-69820800	Weak transcription	Esophagus	oesophagus
8	chr14:69806200-69818400	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:69806400-69813600	Weak transcription	Fetal Intestine Small	intestine
10	chr14:69806600-69814600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:69807000-69821000	Weak transcription	Fetal Intestine Large	intestine
12	chr14:69808600-69813800	Weak transcription	Fetal Brain Female	brain
13	chr14:69808600-69818600	Weak transcription	Fetal Brain Male	brain
14	chr14:69808600-69821600	Weak transcription	Brain Anterior Caudate	brain
15	chr14:69808800-69815200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:69809600-69813800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:69809800-69822800	Weak transcription	Right Atrium	heart
18	chr14:69810000-69814200	Weak transcription	Right Ventricle	heart
19	chr14:69810200-69818000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:69810200-69821600	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:69810200-69822000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:69810400-69814000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:69810600-69817200	Weak transcription	Left Ventricle	heart
24	chr14:69811600-69813600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr14:69811600-69813800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:69812200-69821600	Weak transcription	Aorta	Aorta
27	chr14:69812400-69813400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:69812600-69813400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:69813000-69813800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr14:69813000-69814000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr14:69813000-69814000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:69813200-69813400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr14:69813200-69813400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr14:69813200-69813600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr14:69813200-69814000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr14:69813200-69814000	Enhancers	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links