Variant report

Variant	esv3367473
Chromosome Location	chr14:104615599-104617697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104611975..104614306-chr14:104614594..104616592,2	MCF-7	breast:
2	chr14:104617307..104621301-chr14:104625637..104628605,3	MCF-7	breast:
3	chr14:104603834..104608266-chr14:104611469..104617292,9	MCF-7	breast:
4	chr14:104617545..104619541-chr14:104760413..104762032,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066735	chromatin interactions
ENSG00000258748	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568411689	chr14:104615610-104615611	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs575093033	chr14:104615618-104615619	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs528017931	chr14:104615636-104615637	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs138775440	chr14:104615652-104615653	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141200198	chr14:104615680-104615681	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs539843499	chr14:104615683-104615684	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs549974746	chr14:104615684-104615685	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs570166653	chr14:104615717-104615718	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs535272479	chr14:104615725-104615726	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs555650891	chr14:104615740-104615741	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs572364772	chr14:104615759-104615760	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs78031701	chr14:104615829-104615830	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558088788	chr14:104615849-104615850	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs376616191	chr14:104615852-104615853	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs577529570	chr14:104615867-104615868	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs543437366	chr14:104615917-104615918	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs563212052	chr14:104615966-104615967	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559152406	chr14:104616014-104616015	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs150721831	chr14:104616029-104616030	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs72714972	chr14:104616040-104616041	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs561905712	chr14:104616077-104616078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs564569266	chr14:104616140-104616141	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs547655638	chr14:104616185-104616186	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs58369344	chr14:104616188-104616189	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550176895	chr14:104616201-104616202	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs8019366	chr14:104616226-104616227	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs535988289	chr14:104616229-104616230	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs549511040	chr14:104616232-104616233	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs565834491	chr14:104616261-104616262	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs113991108	chr14:104616270-104616271	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs558066324	chr14:104616398-104616399	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs369737901	chr14:104616441-104616442	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs536636865	chr14:104616454-104616455	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs56685852	chr14:104616455-104616456	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs534619963	chr14:104616543-104616544	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs568181284	chr14:104616546-104616547	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs542266998	chr14:104616581-104616582	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs12896307	chr14:104616589-104616590	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs531173872	chr14:104616613-104616614	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs572271973	chr14:104616639-104616640	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs541263325	chr14:104616655-104616656	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs368926233	chr14:104616656-104616657	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs564602917	chr14:104616657-104616658	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs547883579	chr14:104616664-104616665	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs533729140	chr14:104616685-104616686	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs549901145	chr14:104616722-104616723	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs563662850	chr14:104616723-104616724	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs529276742	chr14:104616744-104616745	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs146383274	chr14:104616765-104616766	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs566210044	chr14:104616770-104616771	Enhancers Active TSS Weak transcription Flanking Active TSS 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:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104607000-104616200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:104609200-104615800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:104610400-104618000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:104610600-104617600	Enhancers	Spleen	Spleen
5	chr14:104611400-104617000	Enhancers	Brain Germinal Matrix	brain
6	chr14:104611400-104619200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr14:104611600-104618000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr14:104612000-104618000	Enhancers	Fetal Muscle Leg	muscle
9	chr14:104612000-104619600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr14:104612200-104617200	Enhancers	Fetal Stomach	stomach
11	chr14:104612400-104616800	Enhancers	Fetal Brain Male	brain
12	chr14:104612600-104619800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:104613400-104615800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr14:104613400-104617600	Enhancers	Fetal Lung	lung
15	chr14:104613600-104616000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:104613600-104616200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:104613600-104618000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:104613600-104619200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:104613800-104616800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:104613800-104617400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr14:104613800-104617600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:104613800-104618000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:104613800-104618200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:104614000-104617200	Enhancers	HUVEC	blood vessel
25	chr14:104614200-104615600	Weak transcription	Colonic Mucosa	Colon
26	chr14:104614200-104616000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr14:104614200-104616000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr14:104614200-104617200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr14:104614400-104615600	Weak transcription	Lung	lung
30	chr14:104614600-104617400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:104614600-104617600	Enhancers	Placenta	Placenta
32	chr14:104614800-104615800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:104614800-104615800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr14:104614800-104616000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:104614800-104616200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr14:104614800-104617800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:104615000-104617400	Enhancers	Right Ventricle	heart
38	chr14:104615200-104615600	Bivalent Enhancer	Adipose Nuclei	Adipose
39	chr14:104615200-104617400	Enhancers	Fetal Heart	heart
40	chr14:104615200-104617400	Enhancers	Left Ventricle	heart
41	chr14:104615400-104615600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:104615400-104615600	Bivalent Enhancer	Brain Hippocampus Middle	brain
43	chr14:104615400-104615800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:104615400-104615800	Weak transcription	Fetal Intestine Small	intestine
45	chr14:104615400-104616000	Enhancers	Fetal Brain Female	brain
46	chr14:104615400-104617000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr14:104615400-104617000	Enhancers	Gastric	stomach
48	chr14:104615400-104617000	Enhancers	Ovary	ovary
49	chr14:104615400-104617400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr14:104615400-104617400	Enhancers	Pancreas	Pancrea

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