Variant report

Variant	esv3346965
Chromosome Location	chr14:68701449-68703447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr14:68701681-68702007	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr14:68701753-68702084	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr14:68701809-68702007	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr14:68701839-68702036	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr14:68701014-68701465	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr14:68701753-68702068	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr14:68701012-68701487	MCF10A-Er-Src	breast:	n/a	n/a
8	FOXA2	chr14:68703384-68703612	HepG2	liver:	n/a	n/a
9	KAP1	chr14:68703265-68704045	U2OS	brain:	n/a	n/a
10	STAT3	chr14:68702675-68702731	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr14:68701867-68702067	MCF10A-Er-Src	breast:	n/a	n/a
12	TCF7L2	chr14:68703351-68703752	PANC-1	pancreas:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:68700078..68701970-chr14:68703317..68705576,2	MCF-7	breast:
2	chr14:68700078..68701970-chr14:68703317..68705576,2	MCF-7	breast:
3	chr14:68688076..68702777-chr14:69257523..69263819,21	MCF-7	breast:
4	chr14:68699987..68701829-chr14:68718554..68721500,2	MCF-7	breast:
5	chr14:68698187..68701712-chr14:69259612..69262470,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFYVE26-5	chr14:68702962-68703256	NONHSAT037480

No data

Variant related genes	Relation type
RN7SL108P	TF binding region
ENSG00000185650	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533355433	chr14:68701494-68701495	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs371554055	chr14:68701504-68701505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551597069	chr14:68701672-68701673	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs145809533	chr14:68701762-68701763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138710334	chr14:68701850-68701851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549834436	chr14:68701856-68701857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567982054	chr14:68701870-68701871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142769519	chr14:68701875-68701876	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547378181	chr14:68701905-68701906	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73290218	chr14:68702008-68702009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539736204	chr14:68702057-68702058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs558033223	chr14:68702081-68702082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs78957511	chr14:68702129-68702130	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537164052	chr14:68702144-68702145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112413844	chr14:68702150-68702151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs183174557	chr14:68702192-68702193	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs541372415	chr14:68702221-68702222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2767372	chr14:68702275-68702276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559309988	chr14:68702281-68702282	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372283745	chr14:68702289-68702290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs61985103	chr14:68702293-68702294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs570566416	chr14:68702420-68702421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs57180468	chr14:68702449-68702450	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563018351	chr14:68702451-68702452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs148460663	chr14:68702481-68702482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545273224	chr14:68702507-68702508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs111576742	chr14:68702600-68702601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111385771	chr14:68702623-68702624	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs187808796	chr14:68702731-68702732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191109082	chr14:68702837-68702838	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568199515	chr14:68702857-68702858	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528890672	chr14:68702884-68702885	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2588812	chr14:68702895-68702896	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs565677471	chr14:68702912-68702913	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539774158	chr14:68702930-68702931	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551666638	chr14:68702970-68702971	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs569887041	chr14:68702976-68702977	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs182243758	chr14:68702995-68702996	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs1314914	chr14:68703076-68703077	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556420120	chr14:68703126-68703127	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
41	rs368141336	chr14:68703170-68703171	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
42	rs574117023	chr14:68703213-68703214	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
43	rs113599246	chr14:68703216-68703217	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
44	rs367917206	chr14:68703337-68703338	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs552975987	chr14:68703431-68703432	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs79111519	chr14:68703443-68703444	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68676800-68703000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:68685000-68705200	Weak transcription	K562	blood
3	chr14:68690800-68712800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:68691000-68705800	Weak transcription	Primary T cells from cord blood	blood
5	chr14:68693000-68705800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:68696600-68702000	Enhancers	Stomach Mucosa	stomach
7	chr14:68697000-68702000	Enhancers	Fetal Kidney	kidney
8	chr14:68697000-68702000	Enhancers	Fetal Lung	lung
9	chr14:68697000-68702000	Enhancers	NH-A	brain
10	chr14:68697400-68702000	Enhancers	Fetal Intestine Large	intestine
11	chr14:68697400-68711400	Weak transcription	Spleen	Spleen
12	chr14:68697400-68712400	Weak transcription	Aorta	Aorta
13	chr14:68697600-68701600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:68697600-68714400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:68697800-68702000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:68698400-68703000	Weak transcription	Ovary	ovary
17	chr14:68698800-68703000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:68699000-68703600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:68699200-68703400	Weak transcription	Fetal Thymus	thymus
20	chr14:68699200-68708600	Weak transcription	Lung	lung
21	chr14:68699400-68701800	Enhancers	NHEK	skin
22	chr14:68699400-68703000	Weak transcription	Colonic Mucosa	Colon
23	chr14:68699600-68705200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:68699800-68703000	Weak transcription	HepG2	liver
25	chr14:68699800-68703400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:68699800-68708400	Weak transcription	Psoas Muscle	Psoas
27	chr14:68700000-68702800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:68700000-68703000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:68700000-68703200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:68700000-68706800	Weak transcription	Brain Anterior Caudate	brain
31	chr14:68700000-68707600	Weak transcription	Brain Hippocampus Middle	brain
32	chr14:68700200-68703000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr14:68700400-68703400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr14:68700400-68703600	Weak transcription	NHDF-Ad	bronchial
35	chr14:68700400-68705400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:68700400-68705800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr14:68700400-68706600	Weak transcription	HUVEC	blood vessel
38	chr14:68700400-68710200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:68700600-68703000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr14:68700600-68703200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr14:68700800-68701600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr14:68700800-68702400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:68700800-68703000	Weak transcription	GM12878-XiMat	blood
44	chr14:68700800-68703400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr14:68700800-68705400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:68700800-68706400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr14:68700800-68708600	Weak transcription	HSMMtube	muscle
48	chr14:68701000-68702000	Enhancers	A549	lung
49	chr14:68701000-68702800	Weak transcription	Liver	Liver
50	chr14:68701000-68703000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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