Variant report

Variant	nsv976342
Chromosome Location	chr14:55468718-55474623
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:6)
LncRNA
region (count:1)
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	chr14:55471856-55471860	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:55469344-55469432	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:55469078-55469138	Gliobla	brain:	n/a	n/a
4	POLR2A	chr14:55471549-55472165	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:55471940-55472052	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55467897..55470459-chr14:55470545..55472401,2	MCF-7	breast:
2	chr14:55468473..55471195-chr14:55518446..55520882,2	K562	blood:
3	chr14:55474408..55478459-chr14:55493227..55495809,4	K562	blood:
4	chr14:55472914..55474496-chr14:55480153..55482140,2	K562	blood:
5	chr14:55469641..55471195-chr14:55518209..55519946,2	K562	blood:
6	chr14:55467897..55470459-chr14:55470545..55472401,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GCH1-1	chr14:55471531-55472405	NONHSAT036981

No data

Variant related genes	Relation type
ENSG00000233924	TF binding region
ENSG00000180008	chromatin interactions
ENSG00000198554	chromatin interactions
ENSG00000168175	chromatin interactions

Extended variants
information (count: 256 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542258875	chr14:55468723-55468724	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376822788	chr14:55468726-55468727	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575589031	chr14:55468737-55468738	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374988591	chr14:55468760-55468761	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369412449	chr14:55468762-55468763	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532373613	chr14:55468763-55468764	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375703895	chr14:55468769-55468770	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371495860	chr14:55468781-55468782	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188873882	chr14:55468787-55468788	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138410771	chr14:55468812-55468813	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554232187	chr14:55468813-55468814	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375849616	chr14:55468819-55468820	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374497720	chr14:55468875-55468876	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530220861	chr14:55468917-55468918	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377700717	chr14:55468945-55468946	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370979449	chr14:55468953-55468954	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77662341	chr14:55468970-55468971	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561508329	chr14:55469001-55469002	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12895097	chr14:55469016-55469017	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570082231	chr14:55469055-55469056	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117745004	chr14:55469091-55469092	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536762204	chr14:55469093-55469094	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530782470	chr14:55469102-55469103	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552861485	chr14:55469114-55469115	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148485759	chr14:55469208-55469209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535261326	chr14:55469221-55469222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142608530	chr14:55469265-55469266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147199684	chr14:55469272-55469273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181246781	chr14:55469289-55469290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535950379	chr14:55469333-55469334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142808549	chr14:55469336-55469337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565268399	chr14:55469372-55469373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139974566	chr14:55469413-55469414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs118135200	chr14:55469476-55469477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147696014	chr14:55469564-55469565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140911735	chr14:55469659-55469660	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs530441083	chr14:55469685-55469686	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs541296885	chr14:55469730-55469731	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547014919	chr14:55469789-55469790	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541273187	chr14:55469813-55469814	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374088346	chr14:55469816-55469817	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs35916951	chr14:55469832-55469833	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs372726165	chr14:55469876-55469877	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559598743	chr14:55469896-55469897	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs17253633	chr14:55469917-55469918	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs542364469	chr14:55469920-55469921	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149777970	chr14:55469998-55469999	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370645370	chr14:55470026-55470027	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529617989	chr14:55470065-55470066	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552279536	chr14:55470077-55470078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55411000-55477000	Weak transcription	Left Ventricle	heart
2	chr14:55418600-55492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:55419800-55480400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr14:55420000-55471600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:55421800-55481400	Weak transcription	Placenta	Placenta
6	chr14:55421800-55492800	Weak transcription	Aorta	Aorta
7	chr14:55422400-55492400	Weak transcription	Fetal Kidney	kidney
8	chr14:55424200-55476800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:55427200-55477400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr14:55428400-55471200	Weak transcription	Brain Germinal Matrix	brain
11	chr14:55428400-55471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:55429000-55492400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr14:55429600-55479000	Weak transcription	Fetal Brain Female	brain
14	chr14:55430400-55484000	Weak transcription	Lung	lung
15	chr14:55434000-55492800	Weak transcription	Primary B cells from cord blood	blood
16	chr14:55434200-55486800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr14:55437600-55483600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:55438600-55490200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:55439400-55485600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr14:55439400-55490200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:55439800-55479400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:55442200-55492800	Weak transcription	Fetal Intestine Large	intestine
23	chr14:55442600-55480600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr14:55443200-55471200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:55443200-55481200	Weak transcription	Pancreas	Pancrea
26	chr14:55443400-55492200	Weak transcription	NHLF	lung
27	chr14:55444000-55471800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:55444200-55480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:55446000-55471400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr14:55447400-55471400	Weak transcription	Ovary	ovary
31	chr14:55447800-55484600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:55450000-55479800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr14:55451400-55469600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:55452200-55471400	Weak transcription	Brain Substantia Nigra	brain
35	chr14:55454000-55471600	Weak transcription	NHEK	skin
36	chr14:55454000-55474400	Weak transcription	NHDF-Ad	bronchial
37	chr14:55454200-55492400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:55454400-55473800	Weak transcription	Adipose Nuclei	Adipose
39	chr14:55454800-55478800	Weak transcription	Fetal Brain Male	brain
40	chr14:55454800-55479000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr14:55455800-55479600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:55455800-55486600	Weak transcription	HepG2	liver
43	chr14:55458200-55471400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr14:55458400-55471400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:55458400-55471600	Weak transcription	Fetal Muscle Leg	muscle
46	chr14:55458400-55471600	Weak transcription	HUVEC	blood vessel
47	chr14:55458400-55477000	Weak transcription	Fetal Lung	lung
48	chr14:55458400-55492200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr14:55458400-55492200	Weak transcription	NH-A	brain
50	chr14:55460000-55471400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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