Variant report

Variant	nsv512361
Chromosome Location	chr14:55750808-55752044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:55750741-55751077	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:55752014-55752061	K562	blood:	n/a	n/a
3	POLR2A	chr14:55751449-55751485	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:55751933-55751975	K562	blood:	n/a	n/a
5	POLR2A	chr14:55751962-55752074	ProgFib	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:55746310..55750691-chr14:55751454..55754283,3	MCF-7	breast:
2	chr14:55750735..55753355-chr14:55793484..55796357,2	K562	blood:
3	chr14:55737035..55739484-chr14:55751324..55753806,2	MCF-7	breast:
4	chr14:55737502..55739699-chr14:55749789..55752392,3	K562	blood:
5	chr14:55741456..55743340-chr14:55751624..55753408,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000239686	TF binding region
ENSG00000258413	chromatin interactions
ENSG00000178974	chromatin interactions
ENSG00000239686	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189852044	chr14:55750831-55750832	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs554918339	chr14:55750832-55750833	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs575901565	chr14:55750842-55750843	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs192615698	chr14:55750922-55750923	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs7155954	chr14:55750943-55750944	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576906940	chr14:55750959-55750960	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs143741458	chr14:55750960-55750961	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs373503206	chr14:55750970-55750971	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs559494621	chr14:55750973-55750974	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs550457985	chr14:55750983-55750984	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs183673385	chr14:55751010-55751011	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs563818521	chr14:55751036-55751037	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs542074104	chr14:55751087-55751088	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs532023116	chr14:55751123-55751124	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs530806356	chr14:55751155-55751156	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs368114357	chr14:55751187-55751188	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs552579890	chr14:55751189-55751190	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs570841459	chr14:55751190-55751191	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs551731315	chr14:55751219-55751220	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs375133528	chr14:55751232-55751233	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs11415053	chr14:55751250-55751251	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs138488588	chr14:55751274-55751275	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs80205429	chr14:55751311-55751312	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs188291283	chr14:55751315-55751316	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs72715759	chr14:55751317-55751318	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs17740551	chr14:55751325-55751326	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374965578	chr14:55751338-55751339	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs369620374	chr14:55751340-55751341	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs60464365	chr14:55751356-55751357	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs536628462	chr14:55751381-55751382	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs558553276	chr14:55751415-55751416	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs576786317	chr14:55751420-55751421	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs374891382	chr14:55751424-55751425	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs540694489	chr14:55751430-55751431	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs74621344	chr14:55751435-55751436	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs369543187	chr14:55751438-55751439	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs373033767	chr14:55751449-55751450	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs370215123	chr14:55751477-55751478	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs72715760	chr14:55751486-55751487	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs574643745	chr14:55751494-55751495	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs186454440	chr14:55751569-55751570	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs563816508	chr14:55751660-55751661	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs118089041	chr14:55751681-55751682	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs557266370	chr14:55751757-55751758	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs577207522	chr14:55751790-55751791	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs189297078	chr14:55751809-55751810	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs564477396	chr14:55751813-55751814	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs116848050	chr14:55751814-55751815	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs547074988	chr14:55751829-55751830	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs58432308	chr14:55751839-55751840	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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	16397240	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
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55739000-55751400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:55739000-55755600	Weak transcription	Gastric	stomach
3	chr14:55739200-55768400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:55740000-55751400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:55740000-55751400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:55740000-55770600	Weak transcription	Colonic Mucosa	Colon
7	chr14:55740200-55754200	Weak transcription	Hela-S3	cervix
8	chr14:55740600-55751400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:55740800-55751400	Weak transcription	Placenta	Placenta
10	chr14:55740800-55752000	Weak transcription	Esophagus	oesophagus
11	chr14:55741000-55764600	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:55741000-55773200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr14:55741200-55754000	Weak transcription	Fetal Brain Male	brain
14	chr14:55741800-55752400	Weak transcription	A549	lung
15	chr14:55741800-55763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:55741800-55763800	Weak transcription	NHEK	skin
17	chr14:55741800-55764600	Weak transcription	HMEC	breast
18	chr14:55742000-55752200	Weak transcription	Fetal Lung	lung
19	chr14:55742000-55765400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr14:55742200-55751600	Weak transcription	Osteobl	bone
21	chr14:55742200-55754000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:55742200-55754200	Weak transcription	Brain Hippocampus Middle	brain
23	chr14:55742200-55754600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:55742600-55754400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr14:55742800-55752000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:55742800-55754200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr14:55744000-55767800	Weak transcription	K562	blood
28	chr14:55744400-55752000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:55744800-55754600	Weak transcription	HepG2	liver
30	chr14:55744800-55757800	Weak transcription	Fetal Intestine Large	intestine
31	chr14:55744800-55764800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:55744800-55765400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:55744800-55767800	Weak transcription	Pancreas	Pancrea
34	chr14:55745000-55752000	Weak transcription	Spleen	Spleen
35	chr14:55745000-55761000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:55745000-55764000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:55745000-55768400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:55745000-55774000	Weak transcription	Liver	Liver
39	chr14:55745200-55751800	Weak transcription	Stomach Mucosa	stomach
40	chr14:55745200-55752200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:55745200-55761000	Weak transcription	Thymus	Thymus
42	chr14:55745200-55764000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr14:55745200-55778400	Weak transcription	Fetal Thymus	thymus
44	chr14:55745400-55751600	Weak transcription	HSMM	muscle
45	chr14:55745400-55752200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:55745400-55754400	Weak transcription	Brain Anterior Caudate	brain
47	chr14:55745400-55758400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:55745400-55759400	Weak transcription	Dnd41	blood
49	chr14:55745400-55764000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr14:55745600-55754000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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