Variant report

Variant	rs57487210
Chromosome Location	chr14:69284223-69284224
allele	C/T
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69086694..69088416-chr14:69280164..69284434,3	K562	blood:
2	chr14:68773035..68775365-chr14:69282821..69285727,2	MCF-7	breast:
3	chr11:65623915..65626404-chr14:69283318..69285149,2	MCF-7	breast:
4	chr14:68930789..68933510-chr14:69282666..69285541,2	MCF-7	breast:
5	chr14:69282210..69284436-chr14:69319969..69321576,2	MCF-7	breast:
6	chr14:68645595..68647728-chr14:69282416..69284911,2	MCF-7	breast:
7	chr14:68726780..68728843-chr14:69282092..69284748,2	MCF-7	breast:
8	chr14:69086694..69088266-chr14:69281564..69284434,2	K562	blood:
9	chr14:68604513..68607685-chr14:69281847..69284792,3	MCF-7	breast:
10	chr14:69281688..69284260-chr20:48598525..48601262,2	MCF-7	breast:
11	chr14:69281839..69285044-chr14:69286277..69289446,3	MCF-7	breast:
12	chr14:68842793..68845023-chr14:69283063..69285593,2	K562	blood:
13	chr14:68712832..68721681-chr14:69280637..69286048,12	MCF-7	breast:
14	chr14:68657723..68660507-chr14:69282289..69285612,3	MCF-7	breast:
15	chr14:68722155..68724200-chr14:69282010..69284699,2	MCF-7	breast:
16	chr14:68774488..68779341-chr14:69281641..69286880,6	MCF-7	breast:
17	chr14:68713914..68715966-chr14:69283266..69284939,2	MCF-7	breast:
18	chr14:69283985..69288405-chr14:69289661..69293345,5	K562	blood:
19	chr14:68607701..68609708-chr14:69282854..69284739,2	MCF-7	breast:
20	chr14:68406502..68410391-chr14:69284099..69289375,6	MCF-7	breast:
21	chr14:69270505..69278428-chr14:69279681..69285729,13	K562	blood:
22	chr14:68716541..68718661-chr14:69283257..69284761,2	MCF-7	breast:
23	chr14:69283010..69284742-chr9:5377237..5379352,2	MCF-7	breast:
24	chr14:68354841..68356509-chr14:69282085..69284702,3	MCF-7	breast:
25	chr14:69282246..69286226-chr14:69289725..69291481,3	MCF-7	breast:
26	chr14:69030262..69032857-chr14:69281297..69284839,4	MCF-7	breast:
27	chr14:68925315..68927272-chr14:69282656..69284660,2	MCF-7	breast:
28	chr14:68406192..68411564-chr14:69279428..69286293,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124216	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172757	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11847206	0.84[AMR][1000 genomes]
rs11848561	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs55753128	0.84[AMR][1000 genomes]
rs56944540	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs57544284	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59647223	0.84[AMR][1000 genomes]
rs7141082	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73279154	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73279175	1.00[EUR][1000 genomes]
rs74060189	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8008250	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs8011424	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9743642	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69276600-69286200	Weak transcription	Ovary	ovary
2	chr14:69280200-69284400	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr14:69282800-69284400	Enhancers	Stomach Mucosa	stomach
4	chr14:69282800-69286400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:69282800-69286600	Weak transcription	Fetal Kidney	kidney
6	chr14:69283000-69287200	Enhancers	Fetal Stomach	stomach
7	chr14:69283400-69284400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:69283400-69285000	Enhancers	Fetal Muscle Trunk	muscle
9	chr14:69283400-69285400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:69283400-69286400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr14:69283600-69284400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:69283600-69284600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:69283600-69284600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:69283600-69284600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:69283600-69284600	Enhancers	Fetal Muscle Leg	muscle
16	chr14:69283600-69284800	Enhancers	Primary B cells from peripheral blood	blood
17	chr14:69283600-69284800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:69283600-69284800	Enhancers	Fetal Thymus	thymus
19	chr14:69283600-69286400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:69283600-69289600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr14:69283800-69284400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr14:69283800-69284400	Enhancers	Primary T cells from cord blood	blood
23	chr14:69283800-69284400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:69283800-69284400	Enhancers	Duodenum Mucosa	Duodenum
25	chr14:69283800-69284400	Weak transcription	Esophagus	oesophagus
26	chr14:69283800-69284600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr14:69283800-69284600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:69283800-69284600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:69283800-69284600	Weak transcription	Spleen	Spleen
30	chr14:69283800-69284800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr14:69283800-69284800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr14:69283800-69284800	Enhancers	Pancreas	Pancrea
33	chr14:69283800-69285000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:69283800-69285200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:69283800-69285200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr14:69283800-69285400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:69283800-69285400	Enhancers	A549	lung
38	chr14:69283800-69285400	Enhancers	Hela-S3	cervix
39	chr14:69283800-69285800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:69283800-69286000	Weak transcription	K562	blood
41	chr14:69283800-69286200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr14:69283800-69286200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:69283800-69286200	Weak transcription	HMEC	breast
44	chr14:69283800-69286400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr14:69283800-69286400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:69283800-69289400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:69283800-69289600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr14:69283800-69291200	Weak transcription	Brain Germinal Matrix	brain
49	chr14:69284000-69284400	Enhancers	Adipose Nuclei	Adipose
50	chr14:69284000-69284400	Enhancers	Fetal Lung	lung

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