Variant report

Variant	rs17127970
Chromosome Location	chr14:55272303-55272304
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55271581..55274371-chr14:55277437..55280415,2	MCF-7	breast:
2	chr14:55030863..55032132-chr14:55271983..55273151,4	K562	blood:
3	chr14:55022092..55022986-chr14:55272302..55272864,2	MCF-7	breast:
4	chr14:55272162..55274540-chr14:55368133..55370664,4	MCF-7	breast:
5	chr14:54976227..54976991-chr14:55272210..55273077,2	MCF-7	breast:
6	chr14:55030910..55034480-chr14:55271107..55275366,4	K562	blood:
7	chr14:55270899..55272684-chr14:55285548..55287241,2	MCF-7	breast:
8	chr14:55031494..55033561-chr14:55270591..55273317,2	K562	blood:
9	chr14:55040891..55043330-chr14:55270490..55273400,2	K562	blood:
10	chr14:55030480..55031593-chr14:55272277..55273148,5	MCF-7	breast:
11	chr14:55240470..55241400-chr14:55272220..55273092,3	MCF-7	breast:
12	chr1:190639004..190639517-chr14:55272079..55272672,2	MCF-7	breast:
13	chr14:55270234..55274125-chr14:55367170..55370199,7	MCF-7	breast:
14	chr14:55237445..55239866-chr14:55271701..55273428,2	K562	blood:
15	chr14:54973891..54976699-chr14:55272273..55274488,2	K562	blood:
16	chr14:55224993..55226570-chr14:55270689..55273331,2	MCF-7	breast:
17	chr14:55031156..55033292-chr14:55272031..55274309,2	MCF-7	breast:
18	chr14:54833449..54833954-chr14:55272246..55272813,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000131979	Chromatin interaction
ENSG00000020577	Chromatin interaction
ENSG00000100532	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12323472	1.00[CHB][hapmap]
rs17127971	0.82[ASW][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.84[YRI][hapmap];0.95[AFR][1000 genomes]
rs57590938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55257200-55272400	Weak transcription	Brain Hippocampus Middle	brain
2	chr14:55257800-55272400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr14:55262000-55272400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:55262000-55274800	Weak transcription	Spleen	Spleen
5	chr14:55262200-55272400	Weak transcription	Aorta	Aorta
6	chr14:55269200-55272400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:55269600-55273000	Enhancers	Fetal Intestine Large	intestine
8	chr14:55270000-55273000	Enhancers	Fetal Heart	heart
9	chr14:55270600-55272400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:55270600-55272400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:55270800-55272600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:55271000-55272600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr14:55271000-55272600	Enhancers	HMEC	breast
14	chr14:55271200-55272400	Weak transcription	Right Atrium	heart
15	chr14:55271200-55272800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:55271400-55272600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr14:55271400-55272600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:55271400-55272600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:55271400-55272600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:55271400-55273000	Flanking Active TSS	NHEK	skin
21	chr14:55271600-55272400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr14:55271600-55273000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:55271800-55272400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
24	chr14:55271800-55272400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr14:55271800-55272400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:55271800-55272600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
27	chr14:55271800-55272800	Bivalent Enhancer	Fetal Stomach	stomach
28	chr14:55271800-55272800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr14:55271800-55273000	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr14:55272000-55272400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:55272000-55272400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:55272000-55272400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:55272000-55272400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr14:55272000-55272400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr14:55272000-55272600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr14:55272000-55272600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
37	chr14:55272000-55272600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:55272000-55273000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr14:55272000-55273000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:55272000-55273000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:55272000-55273000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:55272000-55273000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:55272000-55273000	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr14:55272000-55273000	Enhancers	Esophagus	oesophagus
45	chr14:55272000-55273000	Bivalent Enhancer	Placenta	Placenta
46	chr14:55272000-55273000	Enhancers	Left Ventricle	heart
47	chr14:55272000-55273000	Enhancers	Pancreas	Pancrea
48	chr14:55272000-55273000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
49	chr14:55272000-55273000	Enhancers	NHLF	lung
50	chr14:55272000-55273200	Enhancers	NHDF-Ad	bronchial

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