Variant report

Variant	esv3328741
Chromosome Location	chr14:104359249-104362147
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104354468..104357405-chr14:104359410..104362163,3	MCF-7	breast:
2	chr14:104311422..104315545-chr14:104356597..104360992,6	MCF-7	breast:
3	chr14:104346303..104349191-chr14:104358619..104360504,2	MCF-7	breast:
4	chr14:104321174..104323261-chr14:104360889..104363923,3	MCF-7	breast:
5	chr14:104332785..104335222-chr14:104358563..104360147,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TDRD9-3	chr14:104358583-104361100	l_1075_NR_024396

No data

Variant related genes	Relation type
ENSG00000258735	chromatin interactions
ENSG00000258534	chromatin interactions
ENSG00000088808	chromatin interactions

Extended variants
information (count: 142 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2887385	chr14:104359269-104359270	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117406323	chr14:104359310-104359311	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs370366036	chr14:104359343-104359344	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs145689867	chr14:104359346-104359347	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs560913489	chr14:104359357-104359358	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs572397565	chr14:104359391-104359392	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs374590283	chr14:104359403-104359404	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs35383549	chr14:104359417-104359418	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs201558122	chr14:104359418-104359419	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs564886465	chr14:104359450-104359451	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs2887386	chr14:104359457-104359458	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs530819850	chr14:104359459-104359460	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs185409212	chr14:104359499-104359500	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs111555389	chr14:104359602-104359603	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs12884940	chr14:104359643-104359644	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551516475	chr14:104359665-104359666	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs35924317	chr14:104359696-104359697	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs566688948	chr14:104359705-104359706	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs35976927	chr14:104359735-104359736	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs543998765	chr14:104359781-104359782	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs538907828	chr14:104359801-104359802	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs78581698	chr14:104359864-104359865	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs76359512	chr14:104359867-104359868	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs75335188	chr14:104359900-104359901	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs34778738	chr14:104359907-104359908	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs369642778	chr14:104359925-104359926	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs57494346	chr14:104359935-104359936	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs569214667	chr14:104359936-104359937	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs59211867	chr14:104359940-104359941	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs190610353	chr14:104359960-104359961	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs554576979	chr14:104359973-104359974	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs60421608	chr14:104360024-104360025	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs114282867	chr14:104360039-104360040	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs139418747	chr14:104360066-104360067	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs369984733	chr14:104360069-104360070	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs77124849	chr14:104360071-104360072	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs143932262	chr14:104360080-104360081	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs36087408	chr14:104360090-104360091	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs533901109	chr14:104360098-104360099	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs115805758	chr14:104360132-104360133	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs11844201	chr14:104360133-104360134	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs145898337	chr14:104360174-104360175	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs35170099	chr14:104360182-104360183	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs531541895	chr14:104360188-104360189	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs147794449	chr14:104360192-104360193	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs544260889	chr14:104360222-104360223	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs561371058	chr14:104360246-104360247	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs117943476	chr14:104360302-104360303	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs78716907	chr14:104360303-104360304	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs560343510	chr14:104360346-104360347	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:68 , 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	chr14:104355600-104360200	Weak transcription	Fetal Intestine Small	intestine
5	chr14:104355800-104362200	Enhancers	Liver	Liver
6	chr14:104356000-104362400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:104356400-104362800	Weak transcription	NHEK	skin
8	chr14:104356800-104360600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:104356800-104364000	Weak transcription	HMEC	breast
10	chr14:104357200-104360400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:104357400-104360200	Weak transcription	Colonic Mucosa	Colon
12	chr14:104357400-104360200	Weak transcription	Placenta	Placenta
13	chr14:104357600-104360600	Weak transcription	Lung	lung
14	chr14:104357600-104362800	Weak transcription	Small Intestine	intestine
15	chr14:104357800-104360000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr14:104357800-104360200	Weak transcription	Esophagus	oesophagus
17	chr14:104357800-104360200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:104357800-104360600	Weak transcription	Left Ventricle	heart
19	chr14:104357800-104363000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr14:104357800-104363400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr14:104358000-104360000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:104358000-104360200	Weak transcription	Gastric	stomach
23	chr14:104358000-104360800	Weak transcription	Right Ventricle	heart
24	chr14:104358400-104360800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:104358800-104359600	Enhancers	HepG2	liver
26	chr14:104359000-104360000	Weak transcription	Pancreas	Pancrea
27	chr14:104359000-104360200	Weak transcription	Stomach Mucosa	stomach
28	chr14:104359000-104360200	Weak transcription	Spleen	Spleen
29	chr14:104359600-104360000	Weak transcription	HepG2	liver
30	chr14:104360000-104362000	Enhancers	Pancreas	Pancrea
31	chr14:104360000-104363000	Enhancers	Duodenum Mucosa	Duodenum
32	chr14:104360000-104363000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr14:104360000-104363000	Enhancers	HepG2	liver
34	chr14:104360200-104361000	Enhancers	Colonic Mucosa	Colon
35	chr14:104360200-104361200	Enhancers	Placenta	Placenta
36	chr14:104360200-104361400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:104360200-104361400	Enhancers	Hela-S3	cervix
38	chr14:104360200-104361600	Enhancers	Spleen	Spleen
39	chr14:104360200-104362000	Enhancers	Esophagus	oesophagus
40	chr14:104360200-104362000	Enhancers	Gastric	stomach
41	chr14:104360200-104362200	Enhancers	Fetal Intestine Large	intestine
42	chr14:104360200-104362200	Enhancers	Fetal Intestine Small	intestine
43	chr14:104360200-104362800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr14:104360200-104362800	Enhancers	Stomach Mucosa	stomach
45	chr14:104360400-104360600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:104360400-104363400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr14:104360600-104360800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:104360600-104361000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:104360600-104361200	Enhancers	Left Ventricle	heart
50	chr14:104360600-104361400	Enhancers	Lung	lung

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