Variant report

Variant	nsv983810
Chromosome Location	chr14:31579127-31582581
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	CEBPB	chr14:31580152-31580352	K562	blood:	n/a	chr14:31580269-31580280 chr14:31580271-31580280 chr14:31580334-31580345 chr14:31580334-31580343 chr14:31580271-31580282 chr14:31580269-31580282
2	CEBPB	chr14:31580208-31580373	Hela-S3	cervix:	n/a	chr14:31580269-31580280 chr14:31580271-31580280 chr14:31580334-31580345 chr14:31580334-31580343 chr14:31580271-31580282 chr14:31580269-31580282
3	CEBPB	chr14:31580151-31580408	A549	lung:	n/a	chr14:31580269-31580280 chr14:31580271-31580280 chr14:31580334-31580345 chr14:31580334-31580343 chr14:31580271-31580282 chr14:31580269-31580282
4	CEBPB	chr14:31580103-31580440	HepG2	liver:	n/a	chr14:31580269-31580280 chr14:31580271-31580280 chr14:31580334-31580345 chr14:31580334-31580343 chr14:31580271-31580282 chr14:31580269-31580282
5	CEBPB	chr14:31580111-31580441	IMR90	lung:	n/a	chr14:31580269-31580280 chr14:31580271-31580280 chr14:31580334-31580345 chr14:31580334-31580343 chr14:31580271-31580282 chr14:31580269-31580282
6	POLR2A	chr14:31581693-31582064	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:31579391-31579455	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:31580660-31581848	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:31581969-31582328	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:31579865-31579994	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr14:31581924-31581960	A549	lung:	n/a	n/a
12	POLR2A	chr14:31581378-31581800	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31577991..31579631-chr14:31580157..31582860,2	K562	blood:
2	chr14:31576791..31579720-chr14:31584200..31586773,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STRN3-5	chr14:31581213-31581445	NONHSAT036266
2	lnc-STRN3-5	chr14:31580775-31581013	NONHSAT036266

Variant related genes	Relation type
RPL21P5	TF binding region
HECTD1	TF binding region
ENSG00000258640	chromatin interactions
ENSG00000092148	chromatin interactions

Extended variants
information (count: 142 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540745662	chr14:31579132-31579133	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs559516475	chr14:31579156-31579157	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs574520706	chr14:31579240-31579241	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs187676308	chr14:31579300-31579301	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs563204554	chr14:31579309-31579310	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs376813182	chr14:31579329-31579330	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs148794215	chr14:31579347-31579348	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs192173793	chr14:31579364-31579365	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs564916170	chr14:31579380-31579381	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs532674214	chr14:31579464-31579465	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs547538652	chr14:31579496-31579497	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs566283502	chr14:31579549-31579550	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs184387312	chr14:31579558-31579559	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs536359752	chr14:31579588-31579589	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs142481183	chr14:31579606-31579607	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs117068255	chr14:31579632-31579633	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558612015	chr14:31579748-31579749	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147536833	chr14:31579749-31579750	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12879653	chr14:31579788-31579789	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs55803868	chr14:31579807-31579808	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375937327	chr14:31579903-31579904	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569543001	chr14:31579950-31579951	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370174970	chr14:31579981-31579982	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536833244	chr14:31580070-31580071	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574587142	chr14:31580122-31580123	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541666072	chr14:31580126-31580127	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140253483	chr14:31580162-31580163	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200674201	chr14:31580172-31580173	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577063577	chr14:31580182-31580183	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117380032	chr14:31580214-31580215	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187968268	chr14:31580229-31580230	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193040470	chr14:31580260-31580261	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs58127013	chr14:31580298-31580299	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547872095	chr14:31580469-31580470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559546658	chr14:31580497-31580498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576732114	chr14:31580498-31580499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548844281	chr14:31580545-31580546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144218494	chr14:31580559-31580560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537774626	chr14:31580562-31580563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147790221	chr14:31580602-31580603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570432038	chr14:31580646-31580647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184582393	chr14:31580662-31580663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140230951	chr14:31580666-31580667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149928654	chr14:31580688-31580689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535156999	chr14:31580698-31580699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145036929	chr14:31580724-31580725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574357132	chr14:31580752-31580753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368454649	chr14:31580754-31580755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575063048	chr14:31580758-31580759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545713158	chr14:31580766-31580767	Weak transcription Strong transcription	n/a	n/a	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
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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	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
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31563800-31650000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:31564800-31648600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:31565400-31599000	Strong transcription	Adipose Nuclei	Adipose
4	chr14:31565600-31593200	Strong transcription	Primary B cells from cord blood	blood
5	chr14:31565600-31593200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:31565600-31598000	Strong transcription	Liver	Liver
7	chr14:31565600-31648000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:31565800-31596800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:31566000-31586600	Strong transcription	Fetal Muscle Leg	muscle
10	chr14:31566000-31591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:31566000-31592800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:31566000-31599200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr14:31566000-31627400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:31566200-31586600	Strong transcription	Primary T cells from cord blood	blood
15	chr14:31566200-31590600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:31566200-31591600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:31566200-31596800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:31566200-31597200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr14:31566200-31599200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:31566200-31627000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:31566200-31635200	Strong transcription	Placenta	Placenta
22	chr14:31566200-31648200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr14:31566400-31586600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:31566400-31592400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:31566400-31592600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr14:31566400-31597800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr14:31566400-31597800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr14:31566600-31579800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr14:31566600-31591000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:31566600-31592000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:31566600-31592400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:31566600-31592400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:31566600-31592800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:31566600-31597600	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr14:31567000-31591400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:31567000-31592600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:31567000-31592600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr14:31567000-31597000	Strong transcription	HepG2	liver
39	chr14:31567000-31620200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:31567000-31647600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr14:31567000-31651200	Strong transcription	Dnd41	blood
42	chr14:31567200-31579400	Strong transcription	GM12878-XiMat	blood
43	chr14:31567200-31591200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr14:31567200-31592800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr14:31567200-31592800	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr14:31568200-31591200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr14:31568200-31598600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:31568400-31592400	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr14:31568600-31585600	Strong transcription	Fetal Kidney	kidney
50	chr14:31569400-31585600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood

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