Variant report

Variant	esv3371744
Chromosome Location	chr14:105542457-105545255
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:12)
LncRNA
region (count:2)
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	chr14:105542484..105544320-chr14:105548331..105550005,2	MCF-7	breast:
2	chr14:105523701..105528430-chr14:105538405..105542749,4	K562	blood:
3	chr14:105447414..105449078-chr14:105542830..105544424,2	MCF-7	breast:
4	chr14:105541940..105543448-chr14:105558104..105559608,2	K562	blood:
5	chr14:105537608..105540428-chr14:105542339..105544754,4	MCF-7	breast:
6	chr14:105541634..105546414-chr14:105550039..105556215,6	MCF-7	breast:
7	chr14:105541691..105543848-chr14:105863870..105865478,2	MCF-7	breast:
8	chr14:105540338..105543135-chr14:105547217..105549432,3	K562	blood:
9	chr14:105532364..105534245-chr14:105540275..105543125,2	K562	blood:
10	chr14:105532364..105534497-chr14:105539681..105543125,3	K562	blood:
11	chr14:105539179..105546592-chr14:105547833..105554421,6	K562	blood:
12	chr14:105488320..105490306-chr14:105542807..105544380,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf79-1	chr14:105543887-105543911	XLOC_010951
2	lnc-C14orf79-1	chr14:105543608-105543786	XLOC_010951

No data

Variant related genes	Relation type
ENSG00000183484	chromatin interactions
ENSG00000226174	chromatin interactions
PLDN	miRNA target sites

Extended variants
information (count: 128 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370720176	chr14:105542463-105542464	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs150171201	chr14:105542490-105542491	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs532706788	chr14:105542502-105542503	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs552715358	chr14:105542527-105542528	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs183985283	chr14:105542544-105542545	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs531786850	chr14:105542563-105542564	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs548268914	chr14:105542606-105542607	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs186842764	chr14:105542628-105542629	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs544060960	chr14:105542635-105542636	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs192925769	chr14:105542639-105542640	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs562659162	chr14:105542665-105542666	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs116803442	chr14:105542694-105542695	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs539204010	chr14:105542720-105542721	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs555878844	chr14:105542751-105542752	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs138629327	chr14:105542777-105542778	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs118020499	chr14:105542810-105542811	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371336405	chr14:105542811-105542812	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371503625	chr14:105542813-105542814	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs141751186	chr14:105542814-105542815	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548304184	chr14:105542828-105542829	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145411116	chr14:105542837-105542838	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542750138	chr14:105542848-105542849	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373623045	chr14:105542849-105542850	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185148725	chr14:105542850-105542851	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546417326	chr14:105542866-105542867	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs528472274	chr14:105542870-105542871	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545271314	chr14:105542878-105542879	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs565255639	chr14:105542886-105542887	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548631384	chr14:105542905-105542906	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs137965778	chr14:105542908-105542909	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs527635502	chr14:105542915-105542916	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547382185	chr14:105542931-105542932	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570400769	chr14:105542971-105542972	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs533003171	chr14:105542985-105542986	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549542632	chr14:105542996-105542997	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569446545	chr14:105543030-105543031	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535212469	chr14:105543050-105543051	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs190477581	chr14:105543066-105543067	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565550710	chr14:105543068-105543069	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534604082	chr14:105543124-105543125	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs55780149	chr14:105543220-105543221	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs55951335	chr14:105543248-105543249	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs199744688	chr14:105543252-105543253	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375242482	chr14:105543255-105543256	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557665143	chr14:105543256-105543257	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs556814269	chr14:105543327-105543328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs78107447	chr14:105543359-105543360	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182299335	chr14:105543372-105543373	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs56275808	chr14:105543379-105543380	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs527722080	chr14:105543382-105543383	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Recurrent pregnancy loss	19789632	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105531400-105542800	Weak transcription	Gastric	stomach
2	chr14:105540400-105542600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr14:105540400-105544000	Bivalent Enhancer	Placenta	Placenta
4	chr14:105540400-105544400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:105540400-105544400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:105540400-105544400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr14:105540600-105543000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:105540600-105543000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr14:105540600-105543800	Enhancers	Fetal Muscle Leg	muscle
10	chr14:105540600-105544200	Enhancers	Primary B cells from peripheral blood	blood
11	chr14:105540600-105544600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:105540800-105543200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:105540800-105543400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr14:105540800-105543600	Enhancers	Fetal Thymus	thymus
15	chr14:105541000-105542600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr14:105541000-105542600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr14:105541000-105542600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:105541000-105544000	Enhancers	Spleen	Spleen
19	chr14:105541000-105544600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr14:105541000-105544800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr14:105541000-105544800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr14:105541200-105542600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr14:105541200-105542600	Enhancers	HSMMtube	muscle
24	chr14:105541200-105543000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:105541200-105544000	Enhancers	Lung	lung
26	chr14:105541200-105544200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:105541200-105544200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
28	chr14:105541200-105544400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr14:105541400-105543400	Enhancers	Duodenum Mucosa	Duodenum
30	chr14:105541600-105543600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr14:105541600-105544200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:105541800-105542600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:105541800-105542600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:105541800-105542600	Enhancers	HSMM	muscle
35	chr14:105541800-105542600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr14:105541800-105543000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:105541800-105543200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:105541800-105543400	Enhancers	Primary T cells from cord blood	blood
39	chr14:105541800-105544000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr14:105541800-105544000	Enhancers	Primary B cells from cord blood	blood
41	chr14:105541800-105544200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:105541800-105544400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:105541800-105544400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:105542000-105542600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
45	chr14:105542000-105542600	Bivalent Enhancer	Brain Substantia Nigra	brain
46	chr14:105542000-105542600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
47	chr14:105542000-105542800	Bivalent Enhancer	Fetal Stomach	stomach
48	chr14:105542000-105544200	Enhancers	Right Ventricle	heart
49	chr14:105542000-105544400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:105542200-105542600	Bivalent Enhancer	Esophagus	oesophagus

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