Variant report

Variant	nsv983818
Chromosome Location	chr14:39853896-39855705
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	MAFF	chr14:39854398-39854527	HepG2	liver:	n/a	n/a
2	MAFK	chr14:39854464-39854486	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:39853842-39853940	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr14:39853939-39854074	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr14:39854963-39855060	ProgFib	skin:	n/a	n/a
6	POLR2A	chr14:39855624-39855665	MCF-7	breast:	n/a	n/a
7	RCOR1	chr14:39855013-39855198	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39638262..39639790-chr14:39854572..39857043,2	K562	blood:

Variant related genes	Relation type
ENSG00000221645	TF binding region
ENSG00000182400	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528625896	chr14:39853935-39853936	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs548391172	chr14:39853961-39853962	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs568204074	chr14:39853976-39853977	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs537347282	chr14:39853987-39853988	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs552871324	chr14:39853988-39853989	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs571155842	chr14:39853989-39853990	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs541609225	chr14:39853994-39853995	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs369049466	chr14:39853995-39853996	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs370552647	chr14:39853996-39853997	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs570733678	chr14:39854011-39854012	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs148438456	chr14:39854037-39854038	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs552568666	chr14:39854038-39854039	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs572578674	chr14:39854060-39854061	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs535269596	chr14:39854064-39854065	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs541558016	chr14:39854137-39854138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554731846	chr14:39854219-39854220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574890366	chr14:39854295-39854296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544005679	chr14:39854325-39854326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541038858	chr14:39854327-39854328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553573312	chr14:39854329-39854330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11620621	chr14:39854392-39854393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563798294	chr14:39854410-39854411	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs532861684	chr14:39854418-39854419	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs142912388	chr14:39854437-39854438	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs559821176	chr14:39854462-39854463	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs528588164	chr14:39854503-39854504	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs548745503	chr14:39854516-39854517	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs149444734	chr14:39854528-39854529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568543470	chr14:39854542-39854543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530578021	chr14:39854640-39854641	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371348669	chr14:39854662-39854663	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs560791845	chr14:39854665-39854666	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570624717	chr14:39854671-39854672	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539374581	chr14:39854681-39854682	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs552534003	chr14:39854691-39854692	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs114171911	chr14:39854707-39854708	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535898194	chr14:39854717-39854718	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112844876	chr14:39854727-39854728	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs147312466	chr14:39854746-39854747	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs183899126	chr14:39854760-39854761	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs141014297	chr14:39854782-39854783	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543628921	chr14:39854817-39854818	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557560250	chr14:39854843-39854844	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs557088185	chr14:39854877-39854878	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs546560688	chr14:39854879-39854880	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559781224	chr14:39854929-39854930	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs528446646	chr14:39854960-39854961	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs549693588	chr14:39854991-39854992	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs144937204	chr14:39855000-39855001	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs147864783	chr14:39855069-39855070	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
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
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
2	chr14:39818800-39867200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr14:39835400-39872400	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:39836200-39872800	Weak transcription	Esophagus	oesophagus
5	chr14:39836400-39870600	Weak transcription	Gastric	stomach
6	chr14:39840000-39855000	Weak transcription	Fetal Stomach	stomach
7	chr14:39840000-39856000	Weak transcription	Fetal Intestine Small	intestine
8	chr14:39840000-39863200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:39840000-39863400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:39840000-39864000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:39840000-39867000	Weak transcription	Left Ventricle	heart
12	chr14:39840000-39867400	Weak transcription	Pancreas	Pancrea
13	chr14:39840000-39882600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:39840200-39867200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:39840600-39864400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr14:39841000-39865800	Weak transcription	Primary B cells from cord blood	blood
17	chr14:39841200-39867000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:39841400-39862800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr14:39846200-39864800	Weak transcription	NHEK	skin
20	chr14:39846200-39878800	Weak transcription	Right Ventricle	heart
21	chr14:39846400-39857200	Weak transcription	Liver	Liver
22	chr14:39846400-39862400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:39846400-39864600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:39846400-39867200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr14:39846600-39862600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:39846600-39864600	Weak transcription	HepG2	liver
27	chr14:39846600-39864600	Weak transcription	NH-A	brain
28	chr14:39846600-39864800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:39846600-39866600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr14:39846800-39862600	Weak transcription	Adipose Nuclei	Adipose
31	chr14:39846800-39872400	Weak transcription	HSMMtube	muscle
32	chr14:39848000-39862600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:39850400-39870800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:39851000-39866800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:39851200-39866000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:39851200-39868600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr14:39851400-39854600	Weak transcription	Aorta	Aorta
38	chr14:39851400-39868600	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:39851400-39868600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr14:39851600-39862400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:39851800-39864600	Weak transcription	Fetal Intestine Large	intestine
42	chr14:39852400-39854000	Enhancers	Fetal Thymus	thymus
43	chr14:39852600-39854000	Enhancers	Thymus	Thymus
44	chr14:39852800-39863400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr14:39852800-39864600	Weak transcription	Dnd41	blood
46	chr14:39853000-39867400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:39853000-39867400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:39853200-39866200	Weak transcription	GM12878-XiMat	blood
49	chr14:39853200-39867800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:39853600-39856800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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