Variant report

Variant	esv3376546
Chromosome Location	chr14:105540532-105543080
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105532364..105534497-chr14:105539681..105543125,3	K562	blood:
2	chr14:105541940..105543448-chr14:105558104..105559608,2	K562	blood:
3	chr14:105540338..105543135-chr14:105547217..105549432,3	K562	blood:
4	chr14:105519148..105521520-chr14:105539109..105541488,2	K562	blood:
5	chr14:105488320..105490306-chr14:105542807..105544380,2	MCF-7	breast:
6	chr14:105523701..105528430-chr14:105538405..105542749,4	K562	blood:
7	chr14:105541634..105546414-chr14:105550039..105556215,6	MCF-7	breast:
8	chr14:105538481..105541276-chr14:105553556..105555941,2	K562	blood:
9	chr14:105532364..105534245-chr14:105540275..105543125,2	K562	blood:
10	chr14:105447414..105449078-chr14:105542830..105544424,2	MCF-7	breast:
11	chr14:105539437..105542411-chr14:105625371..105627547,2	K562	blood:
12	chr14:105539179..105546592-chr14:105547833..105554421,6	K562	blood:
13	chr14:105542484..105544320-chr14:105548331..105550005,2	MCF-7	breast:
14	chr14:105537608..105540428-chr14:105542339..105544754,4	MCF-7	breast:
15	chr14:105541691..105543848-chr14:105863870..105865478,2	MCF-7	breast:
16	chr14:105526681..105528779-chr14:105538234..105540945,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183484	chromatin interactions
ENSG00000226174	chromatin interactions

Extended variants
information (count: 134 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545368518	chr14:105540534-105540535	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369011543	chr14:105540540-105540541	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs74092713	chr14:105540595-105540596	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545307515	chr14:105540631-105540632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs35525961	chr14:105540642-105540643	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565126718	chr14:105540668-105540669	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12050098	chr14:105540677-105540678	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547142059	chr14:105540699-105540700	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561011905	chr14:105540747-105540748	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs4983397	chr14:105540752-105540753	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546346147	chr14:105540814-105540815	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560116432	chr14:105540832-105540833	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531965829	chr14:105540842-105540843	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551669519	chr14:105540900-105540901	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150508308	chr14:105540910-105540911	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554990692	chr14:105540912-105540913	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574963520	chr14:105540922-105540923	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs190478226	chr14:105541002-105541003	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369187381	chr14:105541004-105541005	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs567453688	chr14:105541009-105541010	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs4464021	chr14:105541021-105541022	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553160776	chr14:105541022-105541023	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs566859744	chr14:105541051-105541052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs180931982	chr14:105541102-105541103	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs139424878	chr14:105541105-105541106	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575606167	chr14:105541115-105541116	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs111239026	chr14:105541121-105541122	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs185972866	chr14:105541131-105541132	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs373889289	chr14:105541163-105541164	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543906745	chr14:105541169-105541170	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs150057460	chr14:105541172-105541173	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145388524	chr14:105541180-105541181	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs35916062	chr14:105541197-105541198	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs142555876	chr14:105541201-105541202	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs10131486	chr14:105541252-105541253	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532177205	chr14:105541294-105541295	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs72703900	chr14:105541302-105541303	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568685255	chr14:105541304-105541305	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190358917	chr14:105541309-105541310	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550826707	chr14:105541343-105541344	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs144772776	chr14:105541355-105541356	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374693596	chr14:105541356-105541357	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11627133	chr14:105541463-105541464	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs115472945	chr14:105541467-105541468	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566843432	chr14:105541479-105541480	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs34219870	chr14:105541484-105541485	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs147905468	chr14:105541500-105541501	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs11622460	chr14:105541527-105541528	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs11622483	chr14:105541534-105541535	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs71423206	chr14:105541548-105541549	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	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:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105528800-105542000	Weak transcription	Right Atrium	heart
2	chr14:105531400-105542800	Weak transcription	Gastric	stomach
3	chr14:105533800-105541200	Weak transcription	Lung	lung
4	chr14:105536800-105541800	Weak transcription	NH-A	brain
5	chr14:105537000-105541000	Weak transcription	A549	lung
6	chr14:105537000-105541200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:105537200-105540800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:105537200-105541000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr14:105537200-105541000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:105537200-105541200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:105537200-105541200	Weak transcription	HSMM	muscle
12	chr14:105537200-105541800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:105537200-105542000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:105537200-105542000	Weak transcription	K562	blood
15	chr14:105537400-105540600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:105537400-105541000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr14:105537400-105541000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:105537800-105541000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:105538000-105540800	Weak transcription	Fetal Thymus	thymus
20	chr14:105538000-105541200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:105538000-105541200	Weak transcription	HSMMtube	muscle
22	chr14:105538000-105541800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr14:105538200-105540600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:105538200-105541800	Weak transcription	Primary B cells from cord blood	blood
25	chr14:105538400-105540600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr14:105538800-105540600	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr14:105538800-105540600	Weak transcription	GM12878-XiMat	blood
28	chr14:105538800-105540800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr14:105538800-105541000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr14:105539000-105540800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:105539000-105542000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr14:105539000-105542200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr14:105539400-105541000	Weak transcription	Spleen	Spleen
34	chr14:105539600-105540800	Weak transcription	Right Ventricle	heart
35	chr14:105540200-105540600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:105540400-105540600	Weak transcription	Esophagus	oesophagus
37	chr14:105540400-105541800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:105540400-105542000	Enhancers	Primary hematopoietic stem cells	blood
39	chr14:105540400-105542000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:105540400-105542600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr14:105540400-105544000	Bivalent Enhancer	Placenta	Placenta
42	chr14:105540400-105544400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:105540400-105544400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr14:105540400-105544400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr14:105540600-105540800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:105540600-105541000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr14:105540600-105541200	Bivalent Enhancer	Adipose Nuclei	Adipose
48	chr14:105540600-105541800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr14:105540600-105541800	Enhancers	GM12878-XiMat	blood
50	chr14:105540600-105543000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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