Variant report

Variant	esv3523596
Chromosome Location	chr14:37115226-37118074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:37116649..37118063-chr14:37216346..37217730,4	MCF-7	breast:
2	chr14:37116999..37117734-chr14:37444738..37445386,2	MCF-7	breast:
3	chr14:37113935..37116645-chr14:37128692..37132935,3	K562	blood:
4	chr14:37115106..37119062-chr14:37125097..37130192,4	K562	blood:
5	chr14:37117007..37117865-chr14:37224585..37225500,2	MCF-7	breast:
6	chr14:37115811..37118059-chr14:37119729..37122052,2	K562	blood:
7	chr14:37117246..37117989-chr14:37411042..37411700,6	MCF-7	breast:
8	chr14:37116855..37119062-chr14:37125097..37127949,2	K562	blood:
9	chr14:37116820..37118183-chr14:37618958..37620155,6	MCF-7	breast:
10	chr14:37117193..37117982-chr14:37618414..37619153,3	K562	blood:
11	chr14:37117455..37118380-chr14:37411140..37411900,2	MCF-7	breast:
12	chr14:37111085..37113026-chr14:37114318..37117125,2	MCF-7	breast:
13	chr14:37115310..37117842-chr14:37618181..37620146,4	MCF-7	breast:
14	chr14:37116948..37117690-chr14:37591347..37592244,2	MCF-7	breast:
15	chr14:37116932..37117799-chr14:37444845..37445764,5	MCF-7	breast:
16	chr14:37107177..37110095-chr14:37113473..37116981,4	MCF-7	breast:
17	chr14:37117154..37117736-chr14:37125062..37125846,2	MCF-7	breast:
18	chr14:37113050..37116916-chr14:37130582..37134618,6	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC25A21-1	chr14:37116288-37118642	ENSG00000258661.1
2	lnc-PAX9-7	chr14:37117801-37117879	l_966_chr14:37103178-37117879_prostate
3	lnc-PAX9-7	chr14:37117660-37117798	l_966_chr14:37103178-37117879_prostate

No data

Variant related genes	Relation type
ENSG00000198807	chromatin interactions
ENSG00000258661	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571609547	chr14:37115254-37115255	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs555427356	chr14:37115291-37115292	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs575603439	chr14:37115307-37115308	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs12887357	chr14:37115329-37115330	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs12887654	chr14:37115342-37115343	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs543325342	chr14:37115448-37115449	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557200941	chr14:37115451-37115452	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs73258621	chr14:37115499-37115500	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs538803082	chr14:37115534-37115535	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs10707749	chr14:37115535-37115536	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs146707094	chr14:37115565-37115566	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs545584478	chr14:37115571-37115572	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs189567440	chr14:37115575-37115576	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs376727554	chr14:37115587-37115588	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs143062387	chr14:37115614-37115615	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs146143944	chr14:37115647-37115648	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs374064671	chr14:37115654-37115655	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs140137181	chr14:37115745-37115746	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs142420891	chr14:37115778-37115779	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs191853101	chr14:37115782-37115783	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs201128531	chr14:37115808-37115809	Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs533706744	chr14:37115871-37115872	Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184284969	chr14:37115873-37115874	Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs567073014	chr14:37115879-37115880	Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs189048175	chr14:37115896-37115897	Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs549470648	chr14:37115919-37115920	Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs569281728	chr14:37115971-37115972	Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs79098382	chr14:37115988-37115989	Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs116327918	chr14:37115994-37115995	Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs536005927	chr14:37116005-37116006	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs539354363	chr14:37116054-37116055	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs77313287	chr14:37116095-37116096	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs572719356	chr14:37116134-37116135	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs559501566	chr14:37116145-37116146	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs541530228	chr14:37116162-37116163	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs575959568	chr14:37116179-37116180	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs561797998	chr14:37116195-37116196	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs67155512	chr14:37116271-37116272	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs72679711	chr14:37116281-37116282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs2180091	chr14:37116282-37116283	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs564117329	chr14:37116303-37116304	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs533618599	chr14:37116313-37116314	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs74044448	chr14:37116317-37116318	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560633744	chr14:37116356-37116357	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs1569848	chr14:37116358-37116359	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs73258623	chr14:37116381-37116382	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs528369431	chr14:37116382-37116383	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs151300100	chr14:37116390-37116391	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs551709543	chr14:37116392-37116393	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs113068705	chr14:37116395-37116396	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Lung cancer	20031968	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Cancer	21272361	CNVD

Chromatin state (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37113200-37115800	Weak transcription	Esophagus	oesophagus
2	chr14:37114800-37118200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr14:37115800-37116200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:37115800-37116200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:37115800-37116200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:37115800-37116200	Bivalent Enhancer	Adipose Nuclei	Adipose
7	chr14:37115800-37116200	Bivalent Enhancer	Fetal Stomach	stomach
8	chr14:37115800-37117600	Active TSS	Esophagus	oesophagus
9	chr14:37116000-37116200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:37116000-37116200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:37116000-37116200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
12	chr14:37116000-37116200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:37116000-37116200	Bivalent Enhancer	Colonic Mucosa	Colon
14	chr14:37116000-37116200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr14:37116000-37116200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr14:37116000-37116200	Enhancers	Pancreas	Pancrea
17	chr14:37116000-37116200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
18	chr14:37116000-37116200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
19	chr14:37116000-37116400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr14:37116000-37116400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:37116000-37116400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
22	chr14:37116000-37116400	Bivalent/Poised TSS	NHEK	skin
23	chr14:37116000-37116600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr14:37116000-37116800	Enhancers	Gastric	stomach
25	chr14:37116000-37117600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:37116000-37117600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr14:37116000-37117600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:37116000-37117600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:37116000-37117800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr14:37116000-37117800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:37116000-37117800	Bivalent/Poised TSS	Fetal Thymus	thymus
32	chr14:37116000-37118000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr14:37116000-37118000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
34	chr14:37116000-37118000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr14:37116000-37118000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr14:37116000-37118000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr14:37116200-37116400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:37116200-37116400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
39	chr14:37116200-37116400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:37116200-37116400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:37116200-37116400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:37116200-37116400	Bivalent Enhancer	Brain Anterior Caudate	brain
43	chr14:37116200-37116400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
44	chr14:37116200-37116400	Bivalent Enhancer	Brain Hippocampus Middle	brain
45	chr14:37116200-37116400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
46	chr14:37116200-37116400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
47	chr14:37116200-37116400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
48	chr14:37116200-37116400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
49	chr14:37116200-37116400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
50	chr14:37116200-37116400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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