Variant report

Variant	esv3333191
Chromosome Location	chr14:104362552-104363417
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104343466..104345327-chr14:104362441..104364606,2	K562	blood:
2	chr14:104311399..104315345-chr14:104362414..104366566,6	MCF-7	breast:
3	chr14:104362395..104363093-chr16:28332093..28332593,2	HCT-116	colon:
4	chr14:104351018..104353647-chr14:104363104..104364953,3	MCF-7	breast:
5	chr14:104272756..104274930-chr14:104362407..104364169,2	K562	blood:
6	chr14:104321174..104323261-chr14:104360889..104363923,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000088808	chromatin interactions
ENSG00000258735	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577480120	chr14:104362575-104362576	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs367982410	chr14:104362586-104362587	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs537580716	chr14:104362587-104362588	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs142514443	chr14:104362636-104362637	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs563247931	chr14:104362654-104362655	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs72712857	chr14:104362673-104362674	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs542646092	chr14:104362723-104362724	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs559485275	chr14:104362777-104362778	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs528220198	chr14:104362798-104362799	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs547991938	chr14:104362802-104362803	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs564687355	chr14:104362821-104362822	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs533651595	chr14:104362823-104362824	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs373015098	chr14:104362832-104362833	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs574284895	chr14:104362866-104362867	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs140702239	chr14:104362883-104362884	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375198806	chr14:104362889-104362890	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs7154530	chr14:104362899-104362900	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs377709356	chr14:104362900-104362901	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs370457979	chr14:104362901-104362902	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs113937539	chr14:104362904-104362905	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113128085	chr14:104362906-104362907	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs75552553	chr14:104362907-104362908	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs373297118	chr14:104362909-104362910	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs199830764	chr14:104362915-104362916	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs72712858	chr14:104362918-104362919	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs74581429	chr14:104362920-104362921	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs78800274	chr14:104362923-104362924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs58552307	chr14:104362924-104362925	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs373323108	chr14:104362937-104362938	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs200727705	chr14:104362938-104362939	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs375483719	chr14:104362939-104362940	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs55953937	chr14:104362950-104362951	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs373189195	chr14:104362952-104362953	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs55858450	chr14:104362955-104362956	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs7158788	chr14:104362961-104362962	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs376041876	chr14:104362963-104362964	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs12895496	chr14:104362964-104362965	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs370824115	chr14:104362965-104362966	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs201957968	chr14:104362971-104362972	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs199595139	chr14:104362980-104362981	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs55670605	chr14:104362982-104362983	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs56384435	chr14:104362988-104362989	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs373880274	chr14:104362999-104363000	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs79400442	chr14:104363000-104363001	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs77015922	chr14:104363005-104363006	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs55711538	chr14:104363006-104363007	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs565815202	chr14:104363007-104363008	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs56300532	chr14:104363011-104363012	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs372057260	chr14:104363015-104363016	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs56289232	chr14:104363018-104363019	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104347000-104362800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:104347200-104362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:104353600-104362800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:104356400-104362800	Weak transcription	NHEK	skin
5	chr14:104356800-104364000	Weak transcription	HMEC	breast
6	chr14:104357600-104362800	Weak transcription	Small Intestine	intestine
7	chr14:104357800-104363000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:104357800-104363400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:104360000-104363000	Enhancers	Duodenum Mucosa	Duodenum
10	chr14:104360000-104363000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr14:104360000-104363000	Enhancers	HepG2	liver
12	chr14:104360200-104362800	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr14:104360200-104362800	Enhancers	Stomach Mucosa	stomach
14	chr14:104360400-104363400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr14:104361200-104363000	Weak transcription	Left Ventricle	heart
16	chr14:104361400-104362600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:104361400-104362800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:104361400-104362800	Weak transcription	Lung	lung
19	chr14:104361400-104362800	Weak transcription	Right Ventricle	heart
20	chr14:104361600-104362800	Weak transcription	Spleen	Spleen
21	chr14:104362000-104362800	Weak transcription	Colonic Mucosa	Colon
22	chr14:104362000-104362800	Weak transcription	Esophagus	oesophagus
23	chr14:104362000-104362800	Weak transcription	Fetal Lung	lung
24	chr14:104362000-104362800	Weak transcription	Gastric	stomach
25	chr14:104362000-104362800	Weak transcription	Pancreas	Pancrea
26	chr14:104362200-104362600	Weak transcription	Liver	Liver
27	chr14:104362200-104362600	Weak transcription	Fetal Intestine Large	intestine
28	chr14:104362200-104362600	Weak transcription	Fetal Intestine Small	intestine
29	chr14:104362400-104362800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:104362400-104363200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:104362600-104363000	Enhancers	Liver	Liver
32	chr14:104362600-104363200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr14:104362600-104363200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:104362600-104365800	Enhancers	Fetal Intestine Small	intestine
35	chr14:104362600-104366000	Enhancers	Fetal Intestine Large	intestine
36	chr14:104362800-104363000	Active TSS	Spleen	Spleen
37	chr14:104362800-104363200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
38	chr14:104362800-104363200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr14:104362800-104363200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:104362800-104363200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
41	chr14:104362800-104363200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
42	chr14:104362800-104363200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:104362800-104363200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:104362800-104363200	ZNF genes & repeats	Brain Substantia Nigra	brain
45	chr14:104362800-104363200	Flanking Active TSS	Colonic Mucosa	Colon
46	chr14:104362800-104363200	ZNF genes & repeats	Fetal Kidney	kidney
47	chr14:104362800-104363200	ZNF genes & repeats	Fetal Lung	lung
48	chr14:104362800-104363200	ZNF genes & repeats	Lung	lung
49	chr14:104362800-104363200	Transcr. at gene 5' and 3'	Pancreas	Pancrea
50	chr14:104362800-104363200	Active TSS	Rectal Smooth Muscle	rectum

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