Variant report

Variant	esv19772
Chromosome Location	chr14:24914740-24951857
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	ARID3A	chr14:24950760-24951183	HepG2	liver:	n/a	n/a
2	ATF2	chr14:24932426-24932919	GM12878	blood:	n/a	n/a
3	BCLAF1	chr14:24932394-24932853	GM12878	blood:	n/a	chr14:24932495-24932504
4	BHLHE40	chr14:24950873-24951083	GM12878	blood:	n/a	n/a
5	BHLHE40	chr14:24950918-24951048	K562	blood:	n/a	n/a
6	CEBPB	chr14:24925313-24925621	HepG2	liver:	n/a	chr14:24925447-24925460 chr14:24925447-24925458
7	CEBPB	chr14:24936556-24936597	IMR90	lung:	n/a	chr14:24936570-24936581
8	CEBPB	chr14:24933322-24933646	K562	blood:	n/a	chr14:24933477-24933488
9	CEBPB	chr14:24925409-24925575	A549	lung:	n/a	chr14:24925447-24925460 chr14:24925447-24925458
10	CEBPB	chr14:24933331-24933629	HepG2	liver:	n/a	chr14:24933477-24933488
11	CEBPB	chr14:24933358-24933637	IMR90	lung:	n/a	chr14:24933477-24933488
12	CEBPB	chr14:24936466-24936680	HepG2	liver:	n/a	chr14:24936570-24936581
13	CEBPB	chr14:24933380-24933633	A549	lung:	n/a	chr14:24933477-24933488
14	CHD2	chr14:24950846-24951061	HepG2	liver:	n/a	n/a
15	CHD2	chr14:24950790-24951053	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr14:24935061-24935433	GM12878	blood:	n/a	n/a
17	CREB1	chr14:24934957-24935508	GM12878	blood:	n/a	n/a
18	CTCF	chr14:24950860-24951010	AG04449	skin:	n/a	chr14:24950940-24950958
19	CTCF	chr14:24950880-24951030	HPF	lung:	n/a	chr14:24950940-24950958
20	CTCF	chr14:24950822-24951088	MCF-7	breast:	n/a	chr14:24950940-24950958
21	CTCF	chr14:24950797-24951088	Hela-S3	cervix:	n/a	chr14:24950940-24950958
22	CTCF	chr14:24951460-24951610	AG04449	skin:	n/a	chr14:24951464-24951482
23	CTCF	chr14:24950900-24951050	SAEC	small airway:	n/a	chr14:24950940-24950958
24	CTCF	chr14:24950841-24951058	GM10248	blood:	n/a	chr14:24950940-24950958
25	CTCF	chr14:24950940-24951090	A549	lung:	n/a	chr14:24950940-24950958
26	CTCF	chr14:24950652-24951196	MCF-7	breast:	n/a	chr14:24950940-24950958
27	CTCF	chr14:24950840-24950990	HRPEpiC	eye:	n/a	chr14:24950940-24950958
28	CTCF	chr14:24950817-24951113	GM12891	blood:	n/a	chr14:24950940-24950958
29	CTCF	chr14:24950808-24951100	A549	lung:	n/a	chr14:24950940-24950958
30	CTCF	chr14:24950880-24951030	GM12866	blood:	n/a	chr14:24950940-24950958
31	CTCF	chr14:24951160-24951310	HPF	lung:	n/a	n/a
32	CTCF	chr14:24944600-24944750	HepG2	liver:	n/a	n/a
33	CTCF	chr14:24950860-24951010	HMF	breast:	n/a	chr14:24950940-24950958
34	CTCF	chr14:24950787-24951103	T-47D	breast:	n/a	chr14:24950940-24950958
35	CTCF	chr14:24950880-24951030	HepG2	liver:	n/a	chr14:24950940-24950958
36	CTCF	chr14:24950860-24951010	AG09319	gingival:	n/a	chr14:24950940-24950958
37	CTCF	chr14:24950880-24951030	HRE	kidney:	n/a	chr14:24950940-24950958
38	CTCF	chr14:24950880-24951030	AG09319	gingival:	n/a	chr14:24950940-24950958
39	CTCF	chr14:24950776-24951095	LNCaP	prostate:	n/a	chr14:24950940-24950958
40	CTCF	chr14:24950840-24950990	GM12875	blood:	n/a	chr14:24950940-24950958
41	CTCF	chr14:24950831-24951047	Lung_OC	lung:	n/a	chr14:24950940-24950958
42	CTCF	chr14:24950880-24951030	GM12869	blood:	n/a	chr14:24950940-24950958
43	CTCF	chr14:24950880-24951030	HAc	cerebellar:	n/a	chr14:24950940-24950958
44	CTCF	chr14:24950801-24951118	Gliobla	brain:	n/a	chr14:24950940-24950958
45	CTCF	chr14:24943340-24943490	K562	blood:	n/a	n/a
46	CTCF	chr14:24950773-24951137	K562	blood:	n/a	chr14:24950940-24950958
47	CTCF	chr14:24950860-24951010	GM12873	blood:	n/a	chr14:24950940-24950958
48	CTCF	chr14:24950774-24951102	K562	blood:	n/a	chr14:24950940-24950958
49	CTCF	chr14:24950880-24951030	GM12864	blood:	n/a	chr14:24950940-24950958
50	CTCF	chr14:24950200-24950350	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24950446..24951536-chr14:25147799..25148973,31	MCF-7	breast:
2	chr14:24922420..24924852-chr14:24926664..24928247,2	K562	blood:
3	chr14:24950478..24951496-chr14:25147845..25148826,8	MCF-7	breast:
4	chr14:24911289..24913259-chr14:24923385..24925782,2	MCF-7	breast:
5	chr14:24941879..24943792-chr14:24944086..24946470,2	MCF-7	breast:
6	chr14:24922420..24924852-chr14:24926664..24928247,2	K562	blood:
7	chr14:24911430..24913240-chr14:24948207..24950557,2	K562	blood:
8	chr14:24911857..24913696-chr14:24915123..24916800,2	MCF-7	breast:
9	chr14:24925537..24927679-chr14:24931012..24933705,2	MCF-7	breast:
10	chr14:24923545..24925251-chr14:24928583..24930504,2	MCF-7	breast:
11	chr14:24925537..24927679-chr14:24931012..24933705,2	MCF-7	breast:
12	chr14:24923545..24925251-chr14:24928583..24930504,2	MCF-7	breast:
13	chr14:24941879..24943792-chr14:24944086..24946470,2	MCF-7	breast:
14	chr14:24929358..24930887-chr8:102503029..102505102,2	MCF-7	breast:
15	chr14:24950901..24951428-chr14:25147948..25148704,2	K562	blood:
16	chr14:24911704..24914258-chr14:24948506..24950947,2	MCF-7	breast:
17	chr14:24910451..24913467-chr14:24926014..24930297,6	MCF-7	breast:
18	chr14:24940138..24941029-chr14:24952690..24953556,3	MCF-7	breast:
19	chr14:24950851..24951362-chr14:25074499..25075225,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-80A15.1.1-1	chr14:24913490-24914778	ENSG00000251021
2	lnc-RP11-80A15.1.1-1	chr14:24913490-24914778	NR_110032

Variant related genes	Relation type
SDR39U1	TF binding region
ENSG00000100445	chromatin interactions
ENSG00000254024	chromatin interactions
ENSG00000083307	chromatin interactions
CYP2C8	miRNA target sites

Extended variants
information (count: 1665 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1665 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4982920	chr14:24914802-24914803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528172493	chr14:24914879-24914880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551646918	chr14:24914903-24914904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192339841	chr14:24914923-24914924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4981524	chr14:24914929-24914930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs559543555	chr14:24914932-24914933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528939899	chr14:24914948-24914949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78261011	chr14:24914978-24914979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184508077	chr14:24914987-24914988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188725293	chr14:24915038-24915039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555462287	chr14:24915060-24915061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565865057	chr14:24915123-24915124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112193461	chr14:24915151-24915152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181107879	chr14:24915166-24915167	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs533330554	chr14:24915174-24915175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs78663777	chr14:24915196-24915197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112265330	chr14:24915236-24915237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77673327	chr14:24915271-24915272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
19	rs542635782	chr14:24915330-24915331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141560418	chr14:24915331-24915332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571480363	chr14:24915352-24915353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10140911	chr14:24915383-24915384	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs150908924	chr14:24915419-24915420	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565074581	chr14:24915427-24915428	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186050313	chr14:24915481-24915482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550618663	chr14:24915543-24915544	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113315699	chr14:24915565-24915566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370005014	chr14:24915691-24915692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs528319549	chr14:24915705-24915706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375431851	chr14:24915745-24915746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201211329	chr14:24915759-24915760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549013722	chr14:24915767-24915768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145045308	chr14:24915817-24915818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs77240427	chr14:24915818-24915819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142027181	chr14:24915827-24915828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs144621226	chr14:24915828-24915829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs74805728	chr14:24915837-24915838	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534804174	chr14:24915868-24915869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551415996	chr14:24915880-24915881	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569039871	chr14:24915897-24915898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs80123144	chr14:24915898-24915899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189586023	chr14:24915936-24915937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs202067375	chr14:24915968-24915969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs199663027	chr14:24915976-24915977	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs386775691	chr14:24915978-24915979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs1956901	chr14:24915980-24915981	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs386775692	chr14:24915998-24915999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1956899	chr14:24915999-24916000	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs180778066	chr14:24916052-24916053	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs532807501	chr14:24916069-24916070	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Cancer	20164920	CNVD
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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	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
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24912000-24925800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:24912400-24922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:24912600-24925800	Weak transcription	Ovary	ovary
4	chr14:24912800-24915800	Weak transcription	Aorta	Aorta
5	chr14:24912800-24922800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:24912800-24950800	Weak transcription	Gastric	stomach
7	chr14:24913000-24914800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:24913000-24914800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:24913000-24914800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:24913000-24914800	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:24913000-24915000	Weak transcription	Brain Substantia Nigra	brain
12	chr14:24913000-24915000	Weak transcription	K562	blood
13	chr14:24913000-24915600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:24913000-24917000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:24913000-24917400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:24913000-24917600	Weak transcription	Placenta	Placenta
17	chr14:24913000-24917800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:24913000-24918000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:24913000-24922200	Weak transcription	Fetal Intestine Small	intestine
20	chr14:24913000-24922400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:24913000-24922800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:24913000-24923600	Weak transcription	NHEK	skin
23	chr14:24913000-24925400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:24913000-24925800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:24913000-24926400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:24913000-24930000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr14:24913000-24931600	Weak transcription	Fetal Kidney	kidney
28	chr14:24913000-24932400	Weak transcription	Primary B cells from cord blood	blood
29	chr14:24913000-24932800	Weak transcription	Primary T cells from cord blood	blood
30	chr14:24913200-24915000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:24913200-24916000	Weak transcription	HSMM	muscle
32	chr14:24913200-24921800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:24913200-24925400	Weak transcription	HMEC	breast
34	chr14:24913600-24923600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:24914000-24923200	Weak transcription	HepG2	liver
36	chr14:24920800-24927400	Weak transcription	Spleen	Spleen
37	chr14:24921800-24923600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:24922000-24925800	Weak transcription	Liver	Liver
39	chr14:24922200-24924200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:24922200-24924200	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr14:24922200-24946000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:24922400-24922800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
43	chr14:24922400-24923000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr14:24922400-24924600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:24922800-24924200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:24922800-24924200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:24922800-24951000	Weak transcription	Pancreas	Pancrea
48	chr14:24923000-24925800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr14:24923200-24924000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:24923200-24924600	ZNF genes & repeats	HepG2	liver

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