Variant report

Variant	esv1844788
Chromosome Location	chr14:56594420-56771207
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:97)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:97 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:56718359..56720116-chr16:4229533..4231576,2	MCF-7	breast:
2	chr14:56584201..56586248-chr14:56600071..56602389,2	K562	blood:
3	chr14:56735282..56738108-chr14:56741731..56743329,2	K562	blood:
4	chr14:56684475..56686514-chr14:56687367..56688980,2	MCF-7	breast:
5	chr14:56606632..56608561-chr14:56682094..56685625,3	K562	blood:
6	chr14:56649381..56651090-chr14:56683984..56685910,2	K562	blood:
7	chr14:56646170..56649121-chr14:56682750..56684520,2	K562	blood:
8	chr14:56662437..56665407-chr14:56673840..56677281,3	K562	blood:
9	chr14:56711133..56713005-chr14:56715491..56717445,2	MCF-7	breast:
10	chr14:56152134..56154942-chr14:56705477..56707691,2	K562	blood:
11	chr14:56643621..56646971-chr14:56684832..56688465,3	K562	blood:
12	chr14:56649412..56651282-chr14:56653289..56655501,2	K562	blood:
13	chr14:56682063..56684251-chr14:56724181..56726719,2	K562	blood:
14	chr14:56713708..56714514-chr14:57783743..57784543,2	MCF-7	breast:
15	chr14:56642724..56645085-chr14:56645818..56648163,2	K562	blood:
16	chr14:56713948..56714469-chr14:56948717..56949355,2	MCF-7	breast:
17	chr14:56682950..56686816-chr14:56706117..56709663,3	K562	blood:
18	chr14:56552357..56554889-chr14:56680041..56682175,2	K562	blood:
19	chr14:56608539..56610800-chr14:56613943..56615477,2	MCF-7	breast:
20	chr14:56642724..56645085-chr14:56645818..56648163,2	K562	blood:
21	chr14:56617611..56619995-chr14:56685329..56687097,2	K562	blood:
22	chr14:56660081..56671301-chr14:56679407..56688474,29	K562	blood:
23	chr14:56608539..56610800-chr14:56613943..56615477,2	MCF-7	breast:
24	chr14:56617611..56619995-chr14:56685329..56687097,2	K562	blood:
25	chr14:56656212..56658616-chr14:56744495..56746783,2	K562	blood:
26	chr14:56643728..56646285-chr14:56664453..56666938,2	K562	blood:
27	chr14:56591173..56593665-chr14:56598218..56600855,2	MCF-7	breast:
28	chr14:56716743..56718828-chr14:56721969..56724258,2	K562	blood:
29	chr14:56664921..56668726-chr14:56673424..56676785,5	K562	blood:
30	chr14:56683722..56686050-chr14:56732906..56735340,2	K562	blood:
31	chr14:56652145..56654959-chr14:56655814..56657879,2	K562	blood:
32	chr14:56711133..56713005-chr14:56715491..56717445,2	MCF-7	breast:
33	chr14:56643693..56645416-chr14:56800419..56803265,2	K562	blood:
34	chr14:56667127..56669023-chr14:56670519..56672391,2	K562	blood:
35	chr14:56716743..56718828-chr14:56721969..56724258,2	K562	blood:
36	chr14:56662437..56665407-chr14:56673840..56677281,3	K562	blood:
37	chr14:56654435..56657114-chr14:56660451..56662666,2	K562	blood:
38	chr14:56653021..56655091-chr14:56684495..56686512,2	K562	blood:
39	chr14:56684044..56686281-chr14:56718525..56720474,2	K562	blood:
40	chr14:56714179..56714751-chr14:56760641..56761350,3	MCF-7	breast:
41	chr14:56649381..56651090-chr14:56683984..56685910,2	K562	blood:
42	chr14:56637508..56640362-chr14:56648471..56651098,2	K562	blood:
43	chr14:56653021..56655091-chr14:56684495..56686512,2	K562	blood:
44	chr14:56682968..56684539-chr14:56757092..56758766,2	K562	blood:
45	chr14:56681835..56684539-chr14:56756557..56758766,2	K562	blood:
46	chr14:56681835..56684539-chr14:56756557..56758766,2	K562	blood:
47	chr14:56713858..56714576-chr14:56806863..56807531,3	MCF-7	breast:
48	chr14:56683808..56686742-chr14:56806746..56810669,4	K562	blood:
49	chr14:56648236..56651090-chr14:56684410..56686125,2	K562	blood:
50	chr14:56683693..56686050-chr14:56732906..56735340,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-1085N6.3.1-3	chr14:56770208-56770387	ENSG00000259483.1

No data

Variant related genes	Relation type
ENSG00000139946	chromatin interactions
ENSG00000070367	chromatin interactions
ENSG00000053770	chromatin interactions

Extended variants
information (count: 7146 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:7146 , 50 per page) page: 1 2 3 4 5 6 7 ... 143

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3912201	chr14:56594420-56594421	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115658924	chr14:56594466-56594467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527320650	chr14:56594509-56594510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146097179	chr14:56594540-56594541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561394943	chr14:56594640-56594641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115984821	chr14:56594648-56594649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112223003	chr14:56594654-56594655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550098054	chr14:56594687-56594688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140096477	chr14:56594721-56594722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3912200	chr14:56594745-56594746	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs75354560	chr14:56594800-56594801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77129576	chr14:56594801-56594802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547517185	chr14:56594818-56594819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565851003	chr14:56594938-56594939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190705737	chr14:56594956-56594957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370846707	chr14:56595011-56595012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554948209	chr14:56595013-56595014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143675051	chr14:56595023-56595024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12882094	chr14:56595026-56595027	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146802062	chr14:56595038-56595039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577941641	chr14:56595069-56595070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528863953	chr14:56595070-56595071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560255885	chr14:56595122-56595123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372290463	chr14:56595155-56595156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548618186	chr14:56595168-56595169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562435696	chr14:56595203-56595204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181981896	chr14:56595251-56595252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572194157	chr14:56595261-56595262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142980052	chr14:56595262-56595263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151104320	chr14:56595268-56595269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568847647	chr14:56595292-56595293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4898882	chr14:56595351-56595352	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs17091062	chr14:56595371-56595372	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs571375733	chr14:56595384-56595385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78067667	chr14:56595396-56595397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4901638	chr14:56595427-56595428	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs369409414	chr14:56595448-56595449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141056406	chr14:56595532-56595533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76391674	chr14:56595576-56595577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530141269	chr14:56595600-56595601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548284898	chr14:56595673-56595674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570082612	chr14:56595710-56595711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537730286	chr14:56595721-56595722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150253917	chr14:56595722-56595723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571582447	chr14:56595728-56595729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376659497	chr14:56595795-56595796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538809283	chr14:56595909-56595910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186316523	chr14:56595949-56595950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572130946	chr14:56595952-56595953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78865355	chr14:56595968-56595969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Autism	22495311	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	21163964	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3474 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56587400-56596000	Weak transcription	Right Atrium	heart
2	chr14:56587400-56599200	Weak transcription	Colonic Mucosa	Colon
3	chr14:56587600-56595600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr14:56587600-56595800	Weak transcription	Left Ventricle	heart
5	chr14:56587600-56595800	Weak transcription	Right Ventricle	heart
6	chr14:56587600-56595800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:56587600-56596200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:56587600-56596200	Weak transcription	Fetal Stomach	stomach
9	chr14:56587600-56596200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:56587600-56597000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:56587600-56598000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr14:56588200-56595800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:56589200-56596000	Weak transcription	Adipose Nuclei	Adipose
14	chr14:56589400-56596000	Weak transcription	Primary B cells from cord blood	blood
15	chr14:56589400-56596200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:56589800-56595000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr14:56590200-56597000	Enhancers	Thymus	Thymus
18	chr14:56590400-56595800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:56590600-56595600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr14:56591000-56599600	Enhancers	Fetal Thymus	thymus
21	chr14:56591200-56596200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:56591200-56597000	Enhancers	Fetal Brain Male	brain
23	chr14:56591400-56595400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:56591600-56595600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr14:56591600-56596200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:56591600-56596200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:56591600-56596600	Weak transcription	Fetal Lung	lung
28	chr14:56591600-56598200	Weak transcription	Fetal Kidney	kidney
29	chr14:56591800-56595400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr14:56592000-56595800	Weak transcription	Spleen	Spleen
31	chr14:56592000-56597800	Weak transcription	Aorta	Aorta
32	chr14:56592000-56598800	Weak transcription	NHLF	lung
33	chr14:56592000-56601800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:56592200-56595800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:56592400-56599800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:56592400-56600400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:56592600-56595200	Weak transcription	Fetal Intestine Small	intestine
38	chr14:56592600-56595800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:56592600-56596000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:56592600-56597200	Enhancers	Pancreas	Pancrea
41	chr14:56592800-56595000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr14:56592800-56595000	Weak transcription	Small Intestine	intestine
43	chr14:56592800-56595200	Weak transcription	Ovary	ovary
44	chr14:56592800-56596200	Enhancers	Dnd41	blood
45	chr14:56593000-56594800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr14:56593000-56595200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:56593000-56595400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:56593000-56595400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:56593000-56596200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr14:56593000-56596600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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