Variant report

Variant	rs8010531
Chromosome Location	chr14:69416346-69416347
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:69416169-69416425	HUVEC	blood vessel:	n/a	n/a
2	FOS	chr14:69416341-69416669	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr14:69416341-69416670	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr14:69416290-69416653	HUVEC	blood vessel:	n/a	n/a
5	MXI1	chr14:69415203-69416749	SK-N-SH	brain:	n/a	chr14:69415605-69415614
6	POLR2A	chr14:69416097-69416712	HUVEC	blood vessel:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
2	chr14:69415039..69417585-chr14:69434781..69436421,2	K562	blood:
3	chr14:69403117..69416483-chr14:69441657..69449888,50	MCF-7	breast:
4	chr14:69414883..69418076-chr14:69430003..69433073,3	MCF-7	breast:
5	chr14:69408156..69410097-chr14:69416142..69418245,3	MCF-7	breast:
6	chr14:69415496..69418191-chr14:69439013..69440768,2	MCF-7	breast:
7	chr14:69404437..69408069-chr14:69415844..69420142,4	MCF-7	breast:

No data

Variant related genes	Relation type
ACTN1	TF binding region
ENSG00000259062	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2268975	0.96[ASN][1000 genomes]
rs2268976	0.95[ASN][1000 genomes]
rs2268977	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2268978	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2268980	0.82[ASN][1000 genomes]
rs3784140	0.92[ASN][1000 genomes]
rs61602390	0.82[ASN][1000 genomes]
rs72733546	0.86[ASN][1000 genomes]
rs8010464	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011633	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011650	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv564964	chr14:69392264-69423164	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69387400-69420400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:69394200-69422200	Weak transcription	Dnd41	blood
3	chr14:69399000-69423200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr14:69400200-69416400	Enhancers	Pancreas	Pancrea
5	chr14:69400400-69417000	Enhancers	Fetal Muscle Leg	muscle
6	chr14:69400800-69420400	Enhancers	Fetal Lung	lung
7	chr14:69402000-69426200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr14:69402200-69425200	Enhancers	Right Atrium	heart
9	chr14:69402400-69416400	Enhancers	Left Ventricle	heart
10	chr14:69402400-69423600	Enhancers	Fetal Heart	heart
11	chr14:69402400-69427000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:69402600-69416600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr14:69403600-69420400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:69404200-69417000	Enhancers	Right Ventricle	heart
15	chr14:69406400-69417800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:69407000-69419600	Weak transcription	Fetal Brain Male	brain
17	chr14:69407400-69416400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:69408400-69416400	Genic enhancers	Fetal Stomach	stomach
19	chr14:69408400-69416600	Enhancers	Brain Anterior Caudate	brain
20	chr14:69408400-69416600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr14:69409400-69416400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:69409800-69434400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr14:69410200-69416400	Enhancers	Lung	lung
24	chr14:69410200-69420200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr14:69410400-69416600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr14:69410600-69416600	Enhancers	Fetal Thymus	thymus
27	chr14:69410600-69418200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:69411000-69416400	Enhancers	Stomach Mucosa	stomach
29	chr14:69411200-69416600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr14:69411200-69416800	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr14:69411200-69442600	Weak transcription	Fetal Brain Female	brain
32	chr14:69411400-69416600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr14:69411400-69417800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr14:69411800-69417400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:69412000-69416800	Enhancers	Primary B cells from cord blood	blood
36	chr14:69412000-69419200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr14:69412200-69416400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:69412200-69416600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:69412200-69420400	Enhancers	Placenta	Placenta
40	chr14:69412400-69420400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr14:69412800-69419400	Weak transcription	Fetal Kidney	kidney
42	chr14:69413000-69416400	Enhancers	Duodenum Mucosa	Duodenum
43	chr14:69413000-69417800	Enhancers	HepG2	liver
44	chr14:69413000-69419000	Enhancers	NHDF-Ad	bronchial
45	chr14:69413000-69419200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr14:69413200-69416400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:69413400-69423800	Enhancers	HUVEC	blood vessel
48	chr14:69413600-69417800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr14:69413800-69416600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:69413800-69418200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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