Variant report

Variant	esv3528318
Chromosome Location	chr14:35507634-35509580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:35509539-35510010	HepG2	liver:	n/a	chr14:35509792-35509808
2	CTCF	chr14:35509513-35510126	A549	lung:	n/a	chr14:35509912-35509933 chr14:35509910-35509928 chr14:35509913-35509922
3	JUND	chr14:35509529-35509826	HepG2	liver:	n/a	chr14:35509649-35509660 chr14:35509555-35509564
4	NR2F2	chr14:35509073-35509378	K562	blood:	n/a	n/a
5	RAD21	chr14:35509496-35510107	HepG2	liver:	n/a	chr14:35509911-35509930

No.	Distal block	Cell Line	Cell type
1	chr14:35455186..35457809-chr14:35509575..35512529,2	K562	blood:
2	chr14:35507467..35509940-chr14:35513836..35516152,2	MCF-7	breast:
3	chr14:35509386..35510378-chr14:35891186..35892042,3	MCF-7	breast:
4	chr14:35506932..35507762-chr3:185524185..185525086,2	MCF-7	breast:
5	chr14:35508976..35512360-chr14:35513729..35517203,6	K562	blood:

Variant related genes	Relation type
FAM177A1	TF binding region
ENSG00000151327	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182202267	chr14:35507663-35507664	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs5014384	chr14:35507674-35507675	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs574192976	chr14:35507697-35507698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189078509	chr14:35507722-35507723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144870521	chr14:35507736-35507737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529987051	chr14:35507748-35507749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576723679	chr14:35507759-35507760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs71421923	chr14:35507785-35507786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544651912	chr14:35507832-35507833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs559564266	chr14:35507874-35507875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564899442	chr14:35507880-35507881	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528428214	chr14:35507889-35507890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370041484	chr14:35507946-35507947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373045528	chr14:35508024-35508025	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548382945	chr14:35508036-35508037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561906176	chr14:35508141-35508142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs111775145	chr14:35508293-35508294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74740313	chr14:35508355-35508356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113360807	chr14:35508394-35508395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs28700128	chr14:35508826-35508827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs530736245	chr14:35509283-35509284	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs375096781	chr14:35509381-35509382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs368808389	chr14:35509412-35509413	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs191810857	chr14:35509428-35509429	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs799478	chr14:35509462-35509463	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
26	rs570878590	chr14:35509483-35509484	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs537113135	chr14:35509486-35509487	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548032410	chr14:35509509-35509510	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs539789518	chr14:35509563-35509564	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs4594164	chr14:35509571-35509572	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:56)

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
Acute lymphoblastic leukemia	20067559	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
Colorectal cancer	16774939	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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21858162	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35454400-35509800	Weak transcription	Psoas Muscle	Psoas
2	chr14:35485800-35514800	Weak transcription	Right Ventricle	heart
3	chr14:35488600-35514200	Weak transcription	Small Intestine	intestine
4	chr14:35490200-35514600	Weak transcription	NHLF	lung
5	chr14:35496800-35514600	Weak transcription	HSMMtube	muscle
6	chr14:35498000-35514200	Weak transcription	Fetal Kidney	kidney
7	chr14:35498600-35514600	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:35500400-35514200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:35501800-35514400	Weak transcription	NH-A	brain
10	chr14:35502800-35514600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:35503000-35514400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:35503400-35514200	Weak transcription	Primary T cells from cord blood	blood
13	chr14:35503600-35514400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr14:35503600-35514400	Weak transcription	Fetal Lung	lung
15	chr14:35503800-35514200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:35503800-35514200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:35503800-35514400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:35503800-35514600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr14:35503800-35514600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:35503800-35514800	Weak transcription	Aorta	Aorta
21	chr14:35504000-35514200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:35504000-35514400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:35504000-35514400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:35504000-35514600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:35504000-35514600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:35504000-35514800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:35504000-35515000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:35504600-35514200	Weak transcription	Fetal Intestine Small	intestine
29	chr14:35509200-35509400	Enhancers	HepG2	liver
30	chr14:35509400-35509800	Flanking Active TSS	HepG2	liver

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