Variant report

Variant	esv997353
Chromosome Location	chr14:104361980-104363168
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104362395..104363093-chr16:28332093..28332593,2	HCT-116	colon:
2	chr14:104354468..104357405-chr14:104359410..104362163,3	MCF-7	breast:
3	chr14:104343466..104345327-chr14:104362441..104364606,2	K562	blood:
4	chr14:104311399..104315345-chr14:104362414..104366566,6	MCF-7	breast:
5	chr14:104272756..104274930-chr14:104362407..104364169,2	K562	blood:
6	chr14:104321174..104323261-chr14:104360889..104363923,3	MCF-7	breast:
7	chr14:104351018..104353647-chr14:104363104..104364953,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258735	chromatin interactions
ENSG00000088808	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67727470	chr14:104361996-104361997	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141416501	chr14:104362016-104362017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150814071	chr14:104362030-104362031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547504683	chr14:104362067-104362068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576468750	chr14:104362071-104362072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369553437	chr14:104362113-104362114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567171167	chr14:104362151-104362152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139250160	chr14:104362181-104362182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
9	rs191672597	chr14:104362182-104362183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571914789	chr14:104362183-104362184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149970017	chr14:104362210-104362211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184579557	chr14:104362253-104362254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11160769	chr14:104362254-104362255	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566727673	chr14:104362256-104362257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543390138	chr14:104362274-104362275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11160770	chr14:104362291-104362292	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs528953021	chr14:104362293-104362294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12890722	chr14:104362317-104362318	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs562221860	chr14:104362323-104362324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144371796	chr14:104362334-104362335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190063709	chr14:104362383-104362384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571135868	chr14:104362386-104362387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114085532	chr14:104362388-104362389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550117600	chr14:104362389-104362390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114924255	chr14:104362391-104362392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116982664	chr14:104362394-104362395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555590711	chr14:104362427-104362428	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs10873540	chr14:104362443-104362444	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542867414	chr14:104362489-104362490	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs148837679	chr14:104362548-104362549	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs557559400	chr14:104362549-104362550	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs577480120	chr14:104362575-104362576	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs367982410	chr14:104362586-104362587	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs537580716	chr14:104362587-104362588	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs142514443	chr14:104362636-104362637	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs563247931	chr14:104362654-104362655	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs72712857	chr14:104362673-104362674	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs542646092	chr14:104362723-104362724	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs559485275	chr14:104362777-104362778	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs528220198	chr14:104362798-104362799	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:77 , 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	chr14:104355800-104362200	Enhancers	Liver	Liver
5	chr14:104356000-104362400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:104356400-104362800	Weak transcription	NHEK	skin
7	chr14:104356800-104364000	Weak transcription	HMEC	breast
8	chr14:104357600-104362800	Weak transcription	Small Intestine	intestine
9	chr14:104357800-104363000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr14:104357800-104363400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:104360000-104362000	Enhancers	Pancreas	Pancrea
12	chr14:104360000-104363000	Enhancers	Duodenum Mucosa	Duodenum
13	chr14:104360000-104363000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr14:104360000-104363000	Enhancers	HepG2	liver
15	chr14:104360200-104362000	Enhancers	Esophagus	oesophagus
16	chr14:104360200-104362000	Enhancers	Gastric	stomach
17	chr14:104360200-104362200	Enhancers	Fetal Intestine Large	intestine
18	chr14:104360200-104362200	Enhancers	Fetal Intestine Small	intestine
19	chr14:104360200-104362800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr14:104360200-104362800	Enhancers	Stomach Mucosa	stomach
21	chr14:104360400-104363400	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr14:104361200-104363000	Weak transcription	Left Ventricle	heart
23	chr14:104361400-104362000	Enhancers	Colonic Mucosa	Colon
24	chr14:104361400-104362600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:104361400-104362800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:104361400-104362800	Weak transcription	Lung	lung
27	chr14:104361400-104362800	Weak transcription	Right Ventricle	heart
28	chr14:104361600-104362800	Weak transcription	Spleen	Spleen
29	chr14:104362000-104362800	Weak transcription	Colonic Mucosa	Colon
30	chr14:104362000-104362800	Weak transcription	Esophagus	oesophagus
31	chr14:104362000-104362800	Weak transcription	Fetal Lung	lung
32	chr14:104362000-104362800	Weak transcription	Gastric	stomach
33	chr14:104362000-104362800	Weak transcription	Pancreas	Pancrea
34	chr14:104362200-104362600	Weak transcription	Liver	Liver
35	chr14:104362200-104362600	Weak transcription	Fetal Intestine Large	intestine
36	chr14:104362200-104362600	Weak transcription	Fetal Intestine Small	intestine
37	chr14:104362400-104362800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:104362400-104363200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:104362600-104363000	Enhancers	Liver	Liver
40	chr14:104362600-104363200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr14:104362600-104363200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:104362600-104365800	Enhancers	Fetal Intestine Small	intestine
43	chr14:104362600-104366000	Enhancers	Fetal Intestine Large	intestine
44	chr14:104362800-104363000	Active TSS	Spleen	Spleen
45	chr14:104362800-104363200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
46	chr14:104362800-104363200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr14:104362800-104363200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:104362800-104363200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
49	chr14:104362800-104363200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr14:104362800-104363200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell

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