Variant report

Variant	esv1004703
Chromosome Location	chr14:55252382-55256132
allele	n/a
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	chr14:55031998..55034454-chr14:55254526..55256468,2	MCF-7	breast:
2	chr14:55031577..55034283-chr14:55252159..55255561,3	MCF-7	breast:
3	chr14:55048694..55051094-chr14:55253283..55255038,2	K562	blood:
4	chr14:55049587..55051973-chr14:55255815..55258211,2	K562	blood:
5	chr14:55247890..55252413-chr14:55368163..55370491,5	MCF-7	breast:
6	chr14:55031208..55035304-chr14:55253192..55258095,4	K562	blood:
7	chr14:55255469..55258062-chr14:55260338..55262456,2	K562	blood:
8	chr14:55030029..55031723-chr14:55251131..55254123,2	K562	blood:
9	chr14:55252117..55254056-chr14:55258046..55260281,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000020577	chromatin interactions
ENSG00000131979	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184899255	chr14:55252410-55252411	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs561337713	chr14:55252416-55252417	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570138983	chr14:55252425-55252426	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531007860	chr14:55252485-55252486	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs149094946	chr14:55252517-55252518	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188494009	chr14:55252547-55252548	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535045131	chr14:55252578-55252579	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2281651	chr14:55252614-55252615	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs180912402	chr14:55252643-55252644	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564316264	chr14:55252656-55252657	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs75275673	chr14:55252734-55252735	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs74814319	chr14:55252758-55252759	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575767581	chr14:55252763-55252764	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536727942	chr14:55252816-55252817	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558316510	chr14:55252834-55252835	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576766552	chr14:55252839-55252840	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143698944	chr14:55252848-55252849	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559554967	chr14:55252865-55252866	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574570017	chr14:55252875-55252876	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542078744	chr14:55252906-55252907	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs146591022	chr14:55252907-55252908	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs141208542	chr14:55252916-55252917	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183520660	chr14:55252937-55252938	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs76383762	chr14:55252971-55252972	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs189327778	chr14:55252997-55252998	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs144945568	chr14:55253006-55253007	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs181741458	chr14:55253008-55253009	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548640198	chr14:55253046-55253047	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146204664	chr14:55253055-55253056	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs138814133	chr14:55253071-55253072	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs550791874	chr14:55253126-55253127	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569106120	chr14:55253170-55253171	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs35351000	chr14:55253200-55253201	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536790851	chr14:55253227-55253228	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141560374	chr14:55253240-55253241	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576769245	chr14:55253252-55253253	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534584810	chr14:55253257-55253258	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs150486581	chr14:55253261-55253262	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs574812004	chr14:55253302-55253303	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371169784	chr14:55253303-55253304	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs187347372	chr14:55253341-55253342	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs191772226	chr14:55253401-55253402	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs79249271	chr14:55253423-55253424	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564576653	chr14:55253458-55253459	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528491820	chr14:55253478-55253479	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547005511	chr14:55253480-55253481	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551398842	chr14:55253482-55253483	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561913644	chr14:55253500-55253501	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529591666	chr14:55253510-55253511	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537543677	chr14:55253518-55253519	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16397240	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55237600-55261200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:55240600-55253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:55240600-55254800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:55240600-55257000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:55240800-55253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:55240800-55256000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:55240800-55256400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:55240800-55256400	Weak transcription	Brain Angular Gyrus	brain
9	chr14:55240800-55259200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:55240800-55261600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:55240800-55261600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:55241000-55256400	Weak transcription	Ovary	ovary
13	chr14:55241000-55258400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:55241000-55259200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:55241000-55260200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:55241000-55263200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:55241200-55257600	Weak transcription	K562	blood
18	chr14:55241200-55272200	Weak transcription	A549	lung
19	chr14:55241800-55257400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:55243400-55253800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:55243400-55256000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:55243600-55253600	Weak transcription	Thymus	Thymus
23	chr14:55243600-55261400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:55243800-55253200	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr14:55243800-55257400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:55243800-55258000	Strong transcription	HUVEC	blood vessel
27	chr14:55244000-55257400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:55244000-55257400	Strong transcription	NHEK	skin
29	chr14:55244000-55258200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:55244200-55253000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:55244200-55257800	Strong transcription	HSMMtube	muscle
32	chr14:55244200-55258000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:55244200-55258200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:55244400-55256400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr14:55244400-55259400	Strong transcription	NHLF	lung
36	chr14:55244800-55257800	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr14:55245800-55257400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:55246200-55253600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:55246600-55259400	Strong transcription	NHDF-Ad	bronchial
40	chr14:55247000-55257600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:55247200-55258000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr14:55248000-55252400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:55248600-55254800	Genic enhancers	Fetal Intestine Small	intestine
44	chr14:55249000-55252800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr14:55249000-55252800	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr14:55249200-55252400	Strong transcription	NH-A	brain
47	chr14:55249600-55253200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:55249600-55255000	Genic enhancers	Fetal Muscle Leg	muscle
49	chr14:55249800-55255200	Weak transcription	Brain Hippocampus Middle	brain
50	chr14:55250000-55253600	Weak transcription	Primary hematopoietic stem cells	blood

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