Variant report

Variant	rs12435831
Chromosome Location	chr14:69124812-69124813
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69104267..69107230-chr14:69123816..69125821,2	MCF-7	breast:
2	chr14:69122320..69125331-chr14:69259876..69262362,3	MCF-7	breast:
3	chr14:69124488..69126263-chr14:69245986..69248780,2	MCF-7	breast:
4	chr14:68716374..68719235-chr14:69124469..69126637,2	MCF-7	breast:
5	chr14:69112688..69114597-chr14:69122344..69125074,2	K562	blood:
6	chr14:68933809..68936461-chr14:69124608..69126436,2	MCF-7	breast:
7	chr14:69123995..69127271-chr14:69134503..69138047,3	MCF-7	breast:
8	chr14:69116897..69119206-chr14:69123496..69125960,2	MCF-7	breast:
9	chr14:69122826..69132436-chr14:69256721..69264610,21	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10483817	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10483818	0.94[YRI][hapmap]
rs12433279	0.95[YRI][hapmap]
rs12435141	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs12437314	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12890882	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs17756782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902627	0.90[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7141529	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7350738	0.96[ASN][1000 genomes]
rs8006682	0.90[CEU][hapmap];0.93[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8016988	0.94[CEU][hapmap];0.92[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	esv1798800	chr14:69114353-69131030	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69115400-69130200	Enhancers	Fetal Stomach	stomach
2	chr14:69119000-69125800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr14:69119600-69125400	Weak transcription	NHDF-Ad	bronchial
4	chr14:69120800-69126800	Enhancers	Fetal Lung	lung
5	chr14:69120800-69127000	Enhancers	Fetal Thymus	thymus
6	chr14:69120800-69139800	Enhancers	Fetal Muscle Leg	muscle
7	chr14:69121000-69125800	Enhancers	Fetal Muscle Trunk	muscle
8	chr14:69121200-69129400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr14:69122000-69125000	Weak transcription	Gastric	stomach
10	chr14:69122000-69125800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:69122000-69127400	Weak transcription	GM12878-XiMat	blood
12	chr14:69122000-69136000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:69122200-69131200	Weak transcription	Small Intestine	intestine
14	chr14:69122400-69125400	Weak transcription	NHLF	lung
15	chr14:69122600-69125400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr14:69122600-69125600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:69122600-69125600	Weak transcription	Colonic Mucosa	Colon
18	chr14:69122600-69129600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:69122800-69125000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:69122800-69125200	Enhancers	Stomach Smooth Muscle	stomach
21	chr14:69122800-69125200	Weak transcription	HSMMtube	muscle
22	chr14:69122800-69125600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr14:69122800-69125600	Weak transcription	Left Ventricle	heart
24	chr14:69122800-69125600	Weak transcription	Stomach Mucosa	stomach
25	chr14:69122800-69125600	Weak transcription	HSMM	muscle
26	chr14:69122800-69128400	Weak transcription	Right Ventricle	heart
27	chr14:69122800-69133600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr14:69122800-69133800	Weak transcription	Primary B cells from cord blood	blood
29	chr14:69123000-69125000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:69123000-69125000	Weak transcription	Brain Angular Gyrus	brain
31	chr14:69123000-69125000	Weak transcription	Brain Hippocampus Middle	brain
32	chr14:69123000-69125000	Weak transcription	Esophagus	oesophagus
33	chr14:69123000-69125000	Weak transcription	Pancreas	Pancrea
34	chr14:69123000-69125200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:69123000-69125200	Weak transcription	Brain Anterior Caudate	brain
36	chr14:69123000-69125200	Weak transcription	Fetal Heart	heart
37	chr14:69123000-69125200	Weak transcription	Fetal Kidney	kidney
38	chr14:69123000-69125200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:69123000-69125200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:69123000-69125400	Weak transcription	NH-A	brain
41	chr14:69123000-69125600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:69123000-69125600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:69123000-69125800	Weak transcription	Fetal Brain Female	brain
44	chr14:69123000-69129600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:69123000-69130600	Weak transcription	Liver	Liver
46	chr14:69123000-69137800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr14:69123200-69125000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:69123200-69131000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:69123400-69125000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:69123400-69125000	Weak transcription	Right Atrium	heart

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