Variant report

Variant	rs7140546
Chromosome Location	chr14:69126756-69126757
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69125254..69128271-chr14:69281181..69284141,4	MCF-7	breast:
2	chr14:69125471..69127049-chr14:69139914..69141756,2	K562	blood:
3	chr14:69125055..69127745-chr14:69178305..69180249,2	MCF-7	breast:
4	chr14:69094966..69097312-chr14:69124853..69127444,3	MCF-7	breast:
5	chr14:69125365..69129113-chr14:69131189..69133426,4	MCF-7	breast:
6	chr14:68935583..68937127-chr14:69124906..69126838,2	MCF-7	breast:
7	chr14:69123995..69127271-chr14:69134503..69138047,3	MCF-7	breast:
8	chr14:69122826..69132436-chr14:69256721..69264610,21	MCF-7	breast:
9	chr14:68865781..68868150-chr14:69125911..69128521,2	MCF-7	breast:
10	chr14:69126667..69128513-chr14:69248793..69251052,2	MCF-7	breast:
11	chr14:69125612..69128109-chr14:69250025..69252097,2	MCF-7	breast:
12	chr14:69125361..69129179-chr14:69259239..69263742,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000259038	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10143428	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10149893	1.00[CHB][hapmap]
rs11623966	0.90[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627234	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628293	1.00[CHB][hapmap]
rs11629144	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846143	0.88[ASW][hapmap];0.94[GIH][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs17106069	1.00[CHB][hapmap]
rs17829281	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17834977	1.00[CHB][hapmap]
rs2145151	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4420467	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.81[MKK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4516148	1.00[CHB][hapmap]
rs61095830	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143663	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs739874	1.00[CHB][hapmap]
rs8009398	1.00[CHB][hapmap]
rs8009601	1.00[CHB][hapmap]
rs999737	1.00[CHB][hapmap]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7140546	FUT8	cis	cerebellum	SCAN
rs7140546	ACTN1	cis	parietal	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69115400-69130200	Enhancers	Fetal Stomach	stomach
2	chr14:69120800-69126800	Enhancers	Fetal Lung	lung
3	chr14:69120800-69127000	Enhancers	Fetal Thymus	thymus
4	chr14:69120800-69139800	Enhancers	Fetal Muscle Leg	muscle
5	chr14:69121200-69129400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr14:69122000-69127400	Weak transcription	GM12878-XiMat	blood
7	chr14:69122000-69136000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:69122200-69131200	Weak transcription	Small Intestine	intestine
9	chr14:69122600-69129600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr14:69122800-69128400	Weak transcription	Right Ventricle	heart
11	chr14:69122800-69133600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:69122800-69133800	Weak transcription	Primary B cells from cord blood	blood
13	chr14:69123000-69129600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:69123000-69130600	Weak transcription	Liver	Liver
15	chr14:69123000-69137800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:69123200-69131000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:69123800-69130400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:69124400-69128200	Enhancers	Ovary	ovary
19	chr14:69124600-69126800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:69124600-69126800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:69124600-69128000	Enhancers	Lung	lung
22	chr14:69124600-69130200	Enhancers	Placenta	Placenta
23	chr14:69124800-69131800	Enhancers	Spleen	Spleen
24	chr14:69125000-69126800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:69125000-69126800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:69125000-69126800	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr14:69125000-69126800	Enhancers	Esophagus	oesophagus
28	chr14:69125000-69126800	Enhancers	Fetal Intestine Large	intestine
29	chr14:69125000-69126800	Enhancers	Right Atrium	heart
30	chr14:69125000-69127400	Enhancers	Rectal Smooth Muscle	rectum
31	chr14:69125200-69126800	Enhancers	Fetal Kidney	kidney
32	chr14:69125200-69127000	Enhancers	Fetal Intestine Small	intestine
33	chr14:69125200-69127400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:69125400-69126800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr14:69125400-69126800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr14:69125400-69126800	Enhancers	Duodenum Mucosa	Duodenum
37	chr14:69125400-69126800	Enhancers	NHLF	lung
38	chr14:69125400-69127000	Enhancers	NHDF-Ad	bronchial
39	chr14:69125600-69126800	Enhancers	Pancreas	Pancrea
40	chr14:69125600-69126800	Enhancers	HSMM	muscle
41	chr14:69125600-69127800	Enhancers	Left Ventricle	heart
42	chr14:69125600-69128600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:69126000-69127200	Enhancers	Colon Smooth Muscle	Colon
44	chr14:69126000-69127400	Enhancers	Fetal Muscle Trunk	muscle
45	chr14:69126000-69127800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:69126000-69130000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:69126200-69128000	Weak transcription	HSMMtube	muscle
48	chr14:69126400-69128000	Weak transcription	Fetal Heart	heart
49	chr14:69126400-69128000	Enhancers	Stomach Smooth Muscle	stomach
50	chr14:69126400-69128400	Weak transcription	H1 Cell Line	embryonic stem cell

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