Variant report

Variant	esv3321692
Chromosome Location	chr14:104651399-104652847
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104651259..104651765-chr14:104760560..104761404,2	MCF-7	breast:
2	chr14:104622500..104624420-chr14:104650489..104652508,2	K562	blood:
3	chr14:104650176..104652362-chr14:104808842..104810389,2	MCF-7	breast:
4	chr14:104637508..104640421-chr14:104649656..104651711,3	MCF-7	breast:
5	chr14:104649534..104651729-chr14:104660798..104662472,2	MCF-7	breast:
6	chr14:104644824..104647219-chr14:104651116..104653195,2	K562	blood:
7	chr14:104644034..104647829-chr14:104648059..104652639,5	MCF-7	breast:
8	chr14:104651310..104653934-chr14:104676245..104678161,2	MCF-7	breast:
9	chr14:104649230..104653061-chr14:104657794..104660199,5	MCF-7	breast:
10	chr14:104632447..104634396-chr14:104650392..104653194,2	K562	blood:
11	chr14:104602083..104606800-chr14:104649678..104656936,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000066735	chromatin interactions
ENSG00000258748	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572028347	chr14:104651406-104651407	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs541160083	chr14:104651408-104651409	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs113243315	chr14:104651503-104651504	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs150297096	chr14:104651508-104651509	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs115419955	chr14:104651516-104651517	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs370416657	chr14:104651517-104651518	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546429432	chr14:104651526-104651527	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs563142204	chr14:104651530-104651531	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs532065650	chr14:104651545-104651546	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs112815765	chr14:104651572-104651573	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs542223610	chr14:104651667-104651668	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs527917231	chr14:104651678-104651679	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs181472082	chr14:104651725-104651726	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs527776593	chr14:104651762-104651763	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs187661192	chr14:104651799-104651800	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs570862183	chr14:104651983-104651984	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs533111977	chr14:104651984-104651985	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs549583704	chr14:104652037-104652038	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569590168	chr14:104652038-104652039	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs11625198	chr14:104652222-104652223	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs11625203	chr14:104652240-104652241	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs371711467	chr14:104652290-104652291	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs565715670	chr14:104652309-104652310	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs534324718	chr14:104652359-104652360	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs113716555	chr14:104652390-104652391	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs10141181	chr14:104652462-104652463	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs550400744	chr14:104652490-104652491	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs10141203	chr14:104652524-104652525	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs556824590	chr14:104652538-104652539	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs576794438	chr14:104652540-104652541	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs113932599	chr14:104652555-104652556	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs542586141	chr14:104652619-104652620	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs367649311	chr14:104652641-104652642	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs572361661	chr14:104652643-104652644	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs541078976	chr14:104652651-104652652	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs564572848	chr14:104652689-104652690	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs533276404	chr14:104652744-104652745	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs190844041	chr14:104652786-104652787	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs12879395	chr14:104652787-104652788	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs529147363	chr14:104652802-104652803	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs146364812	chr14:104652810-104652811	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs372444114	chr14:104652822-104652823	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	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
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104642000-104652400	Weak transcription	Pancreas	Pancrea
2	chr14:104643800-104662200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:104644600-104652600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:104645000-104652600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:104645400-104655000	Weak transcription	Gastric	stomach
6	chr14:104648200-104655000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:104648400-104654400	Weak transcription	Brain Germinal Matrix	brain
8	chr14:104649400-104652800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr14:104649600-104651600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr14:104649800-104651400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr14:104649800-104651800	Bivalent Enhancer	Adipose Nuclei	Adipose
12	chr14:104649800-104651800	Enhancers	Right Ventricle	heart
13	chr14:104650000-104651600	Enhancers	Lung	lung
14	chr14:104650200-104651400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:104650200-104652600	Enhancers	Fetal Muscle Leg	muscle
16	chr14:104650400-104651800	Bivalent Enhancer	Placenta	Placenta
17	chr14:104650600-104651400	Enhancers	Esophagus	oesophagus
18	chr14:104650600-104651600	Enhancers	Fetal Heart	heart
19	chr14:104650600-104651800	Enhancers	Left Ventricle	heart
20	chr14:104650600-104652800	Enhancers	HUVEC	blood vessel
21	chr14:104650800-104651400	Enhancers	Right Atrium	heart
22	chr14:104650800-104651600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr14:104650800-104651800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:104650800-104651800	Enhancers	Hela-S3	cervix
25	chr14:104650800-104652000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:104650800-104653000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:104651000-104651400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:104651000-104651600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:104651000-104651800	Enhancers	Fetal Lung	lung
30	chr14:104651000-104652000	Enhancers	Spleen	Spleen
31	chr14:104651200-104651600	Enhancers	Fetal Intestine Small	intestine
32	chr14:104651200-104651600	Enhancers	A549	lung
33	chr14:104651200-104652000	Bivalent Enhancer	Fetal Stomach	stomach
34	chr14:104651400-104651600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:104651400-104651600	Weak transcription	Esophagus	oesophagus
36	chr14:104651400-104651600	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr14:104651400-104652600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:104651600-104652400	Weak transcription	Lung	lung
39	chr14:104651600-104653200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:104651600-104654200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr14:104651600-104655000	Weak transcription	Fetal Intestine Small	intestine
42	chr14:104651800-104652200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:104651800-104652200	Weak transcription	Left Ventricle	heart
44	chr14:104651800-104652200	Weak transcription	Right Ventricle	heart
45	chr14:104651800-104652200	Weak transcription	Hela-S3	cervix
46	chr14:104651800-104653000	Weak transcription	Fetal Lung	lung
47	chr14:104652000-104652400	Weak transcription	Spleen	Spleen
48	chr14:104652000-104652600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:104652200-104652400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:104652200-104652600	Enhancers	Left Ventricle	heart

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