Variant report

Variant	esv1798800
Chromosome Location	chr14:69114353-69131030
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:55)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:69115935..69118979-chr14:69121407..69123459,3	MCF-7	breast:
2	chr14:69118549..69120468-chr14:69255741..69258474,2	MCF-7	breast:
3	chr14:68740932..68744536-chr14:69121884..69124192,3	MCF-7	breast:
4	chr14:69125254..69128271-chr14:69281181..69284141,4	MCF-7	breast:
5	chr14:69113345..69115393-chr14:69129632..69132510,2	K562	blood:
6	chr14:69130934..69132672-chr14:69136285..69137846,2	MCF-7	breast:
7	chr14:69125361..69129179-chr14:69259239..69263742,5	MCF-7	breast:
8	chr14:69130068..69132761-chr14:69260724..69262933,2	MCF-7	breast:
9	chr14:69095981..69098144-chr14:69121077..69123082,2	MCF-7	breast:
10	chr14:69113122..69115915-chr14:69116555..69118938,2	K562	blood:
11	chr14:69117709..69119470-chr14:69122795..69124704,2	K562	blood:
12	chr14:69096480..69098548-chr14:69114261..69117123,2	MCF-7	breast:
13	chr14:69116897..69119206-chr14:69123496..69125960,2	MCF-7	breast:
14	chr14:69115935..69118979-chr14:69121407..69123459,3	MCF-7	breast:
15	chr14:69128073..69128877-chr14:69255327..69256259,5	MCF-7	breast:
16	chr14:69113345..69115393-chr14:69129632..69132510,2	K562	blood:
17	chr14:68617419..68619958-chr14:69128377..69130233,2	MCF-7	breast:
18	chr14:69104267..69107230-chr14:69123816..69125821,2	MCF-7	breast:
19	chr14:69112688..69114597-chr14:69122344..69125074,2	K562	blood:
20	chr14:69094966..69097312-chr14:69124853..69127444,3	MCF-7	breast:
21	chr14:69117709..69119470-chr14:69122795..69124704,2	K562	blood:
22	chr14:69122387..69124084-chr14:69250804..69252456,2	MCF-7	breast:
23	chr14:69113799..69116551-chr14:69119650..69121354,2	K562	blood:
24	chr14:69112688..69114597-chr14:69122344..69125074,2	K562	blood:
25	chr14:69123995..69127271-chr14:69134503..69138047,3	MCF-7	breast:
26	chr14:69094141..69095767-chr14:69119019..69121278,2	MCF-7	breast:
27	chr14:69120949..69124420-chr14:69255481..69258792,4	MCF-7	breast:
28	chr14:69113122..69115915-chr14:69116555..69118938,2	K562	blood:
29	chr14:69125055..69127745-chr14:69178305..69180249,2	MCF-7	breast:
30	chr14:69122826..69132436-chr14:69256721..69264610,21	MCF-7	breast:
31	chr14:68990793..68991332-chr14:69122376..69122983,2	MCF-7	breast:
32	chr14:68933809..68936461-chr14:69124608..69126436,2	MCF-7	breast:
33	chr14:69113799..69116551-chr14:69119650..69121354,2	K562	blood:
34	chr14:69125471..69127049-chr14:69139914..69141756,2	K562	blood:
35	chr14:69128588..69133050-chr14:69253079..69257196,5	MCF-7	breast:
36	chr14:68865781..68868150-chr14:69125911..69128521,2	MCF-7	breast:
37	chr14:69124488..69126263-chr14:69245986..69248780,2	MCF-7	breast:
38	chr14:69130772..69132590-chr14:69251342..69252982,2	MCF-7	breast:
39	chr14:69030473..69032904-chr14:69122357..69124258,2	MCF-7	breast:
40	chr14:69122320..69125331-chr14:69259876..69262362,3	MCF-7	breast:
41	chr14:68935583..68937127-chr14:69124906..69126838,2	MCF-7	breast:
42	chr14:69127719..69129737-chr14:69289553..69291881,2	MCF-7	breast:
43	chr14:68716843..68718749-chr14:69119159..69120912,2	MCF-7	breast:
44	chr14:68937048..68939834-chr14:69120983..69124190,3	MCF-7	breast:
45	chr14:69125612..69128109-chr14:69250025..69252097,2	MCF-7	breast:
46	chr14:69119565..69122267-chr14:69260745..69262641,2	MCF-7	breast:
47	chr14:69128118..69129295-chr14:69255476..69256194,4	MCF-7	breast:
48	chr14:68716374..68719235-chr14:69124469..69126637,2	MCF-7	breast:
49	chr14:69111300..69112991-chr14:69119803..69122665,2	MCF-7	breast:
50	chr14:69116897..69119206-chr14:69123496..69125960,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	chromatin interactions
ENSG00000259038	chromatin interactions
ENSG00000182185	chromatin interactions

Extended variants
information (count: 639 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:639 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532665477	chr14:69114372-69114373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551269844	chr14:69114386-69114387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367641918	chr14:69114418-69114419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61987115	chr14:69114465-69114466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549385722	chr14:69114468-69114469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555243257	chr14:69114473-69114474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189382022	chr14:69114521-69114522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192955879	chr14:69114527-69114528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552963349	chr14:69114656-69114657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577650596	chr14:69114660-69114661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374934304	chr14:69114721-69114722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200978532	chr14:69114722-69114723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201649692	chr14:69114724-69114725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374793479	chr14:69114739-69114740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533868751	chr14:69114742-69114743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375269798	chr14:69114753-69114754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376417334	chr14:69114755-69114756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370390304	chr14:69114757-69114758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369495798	chr14:69114759-69114760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201058870	chr14:69114764-69114765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10130609	chr14:69114767-69114768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189001137	chr14:69114769-69114770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540657421	chr14:69114779-69114780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139894093	chr14:69114780-69114781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116988664	chr14:69114789-69114790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543302378	chr14:69114793-69114794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372949249	chr14:69114803-69114804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199695080	chr14:69114804-69114805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200583110	chr14:69114808-69114809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556156256	chr14:69114812-69114813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10142715	chr14:69114821-69114822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561554418	chr14:69114828-69114829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528840801	chr14:69114829-69114830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540241291	chr14:69114830-69114831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200907894	chr14:69114841-69114842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368247892	chr14:69114843-69114844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371883719	chr14:69114851-69114852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370806566	chr14:69114854-69114855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61987116	chr14:69114863-69114864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368723351	chr14:69114872-69114873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374570841	chr14:69114874-69114875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368180261	chr14:69114878-69114879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116814518	chr14:69114885-69114886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531773425	chr14:69114939-69114940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532464312	chr14:69114952-69114953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551073168	chr14:69114954-69114955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181682523	chr14:69114970-69114971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145876626	chr14:69115138-69115139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73285899	chr14:69115152-69115153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567203793	chr14:69115221-69115222	Weak transcription Enhancers	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
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
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
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69105000-69121600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:69106000-69117000	Weak transcription	Fetal Intestine Large	intestine
3	chr14:69106200-69115600	Weak transcription	Esophagus	oesophagus
4	chr14:69106400-69118200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:69106400-69118400	Weak transcription	Spleen	Spleen
6	chr14:69106800-69116000	Weak transcription	Ovary	ovary
7	chr14:69108800-69119000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:69109400-69122400	Weak transcription	Primary B cells from cord blood	blood
9	chr14:69111000-69115400	Weak transcription	Adipose Nuclei	Adipose
10	chr14:69111200-69115400	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:69111200-69116000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:69111200-69117200	Weak transcription	Right Ventricle	heart
13	chr14:69111200-69117800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr14:69111400-69117200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr14:69112000-69121600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:69112400-69118200	Weak transcription	NH-A	brain
17	chr14:69113000-69116800	Weak transcription	Fetal Heart	heart
18	chr14:69113200-69116000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr14:69113200-69121600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:69113400-69115200	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:69113400-69115400	Weak transcription	Fetal Lung	lung
22	chr14:69113400-69115400	Weak transcription	Fetal Stomach	stomach
23	chr14:69113400-69117000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:69113400-69117000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr14:69113400-69117200	Weak transcription	Fetal Intestine Small	intestine
26	chr14:69113400-69118200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr14:69113400-69118200	Weak transcription	HepG2	liver
28	chr14:69113400-69118200	Weak transcription	HSMM	muscle
29	chr14:69113800-69118600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:69114000-69121200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr14:69115000-69115600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr14:69115200-69116000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr14:69115200-69119600	Enhancers	Placenta	Placenta
34	chr14:69115200-69123400	Enhancers	Colon Smooth Muscle	Colon
35	chr14:69115400-69115800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:69115400-69115800	Enhancers	Adipose Nuclei	Adipose
37	chr14:69115400-69115800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr14:69115400-69116600	Enhancers	Fetal Muscle Leg	muscle
39	chr14:69115400-69118000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:69115400-69119800	Enhancers	Fetal Lung	lung
41	chr14:69115400-69130200	Enhancers	Fetal Stomach	stomach
42	chr14:69115600-69115800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr14:69115600-69115800	Enhancers	Fetal Thymus	thymus
44	chr14:69115600-69115800	Enhancers	Right Atrium	heart
45	chr14:69115600-69115800	Enhancers	Small Intestine	intestine
46	chr14:69115600-69116200	Enhancers	Psoas Muscle	Psoas
47	chr14:69115600-69116800	Enhancers	Esophagus	oesophagus
48	chr14:69115600-69117200	Enhancers	Osteobl	bone
49	chr14:69115600-69118400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr14:69115600-69118400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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