Variant report

Variant	esv3524018
Chromosome Location	chr14:81878212-81880613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:81878850-81879176	A549	lung:	n/a	n/a
2	CEBPB	chr14:81878944-81879032	IMR90	lung:	n/a	n/a
3	CEBPB	chr14:81878895-81879151	K562	blood:	n/a	n/a
4	CEBPB	chr14:81878924-81879121	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr14:81878865-81879164	ECC-1	luminal epithelium:	n/a	n/a
6	CTCF	chr14:81879369-81879450	ProgFib	skin:	n/a	n/a
7	CTCF	chr14:81879565-81879655	Lung_OC	lung:	n/a	n/a
8	ESR1	chr14:81879118-81879383	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr14:81878168-81878329	K562	blood:	n/a	n/a
10	YY1	chr14:81879145-81879402	ECC-1	luminal epithelium:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:81879375-81879425	SAEC	small airway:	n/a
2	chr14:81879375-81879425	HCF	heart:	n/a
3	chr14:81879247-81879297	LNCaP	prostate:	n/a
4	chr14:81879375-81879425	K562	blood:	n/a
5	chr14:81879247-81879297	AoSMC	blood vessel:	n/a
6	chr14:81879247-81879297	NT2-D1	testis:	n/a
7	chr14:81879247-81879297	SAEC	small airway:	n/a
8	chr14:81879247-81879297	HIPEpiC	eye:	n/a
9	chr14:81879375-81879425	AG09319	gingival:	n/a
10	chr14:81879247-81879297	SKMC	muscle:	n/a
11	chr14:81879375-81879425	HRCEpiC	kidney:	n/a
12	chr14:81879375-81879425	AG04450	lung:	fetal
13	chr14:81879375-81879425	HUVEC	blood vessel:	n/a
14	chr14:81879247-81879297	GM12878	blood:	n/a
15	chr14:81879375-81879425	AG04449	skin:	fetal
16	chr14:81879375-81879425	Hela-S3	cervix:	n/a
17	chr14:81879247-81879297	Hepatocyte	liver:	n/a
18	chr14:81879375-81879425	GM19239	blood:	n/a
19	chr14:81879247-81879297	HRE	kidney:	n/a
20	chr14:81879247-81879297	PANC-1	pancreas:	n/a
21	chr14:81879375-81879425	PrEC	prostate:	n/a
22	chr14:81879247-81879297	NHBE	bronchial:	n/a
23	chr14:81879375-81879425	HIPEpiC	eye:	n/a
24	chr14:81879375-81879425	A549	lung:	n/a
25	chr14:81879247-81879297	Jurkat	blood:	n/a
26	chr14:81879247-81879297	GM12891	blood:	n/a
27	chr14:81879375-81879425	HL-60	blood:	n/a
28	chr14:81879375-81879425	HAEpiC	amniotic membrane:	n/a
29	chr14:81879247-81879297	IMR90	lung:	fetal
30	chr14:81879247-81879297	CMK	blood:	n/a
31	chr14:81879247-81879297	T-47D	breast:	n/a
32	chr14:81879375-81879425	CMK	blood:	n/a
33	chr14:81879247-81879297	H1-hESC	embryonic stem cell:	embryo
34	chr14:81879247-81879297	HPAEpiC	pulmonary alveolar:	n/a
35	chr14:81879375-81879425	MCF10A-Er-Src	breast:	n/a
36	chr14:81879375-81879425	NH-A	brain:	n/a
37	chr14:81879375-81879425	AG09309	skin:	n/a
38	chr14:81879247-81879297	HL-60	blood:	n/a
39	chr14:81879375-81879425	ProgFib	skin:	n/a
40	chr14:81879247-81879297	MCF10A-Er-Src	breast:	n/a
41	chr14:81879375-81879425	HEK293	kidney:	embryo
42	chr14:81879247-81879297	Hela-S3	cervix:	n/a
43	chr14:81879375-81879425	BJ	skin:	n/a
44	chr14:81879375-81879425	AoSMC	blood vessel:	n/a
45	chr14:81879375-81879425	MCF-7	breast:	n/a
46	chr14:81879375-81879425	AG10803	skin:	n/a
47	chr14:81879375-81879425	SK-N-SH_RA	brain:	n/a
48	chr14:81879247-81879297	HCPEpiC	choroid plexus:	n/a
49	chr14:81879247-81879297	GM06990	blood:	n/a
50	chr14:81879375-81879425	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:81876407..81878625-chr14:81895373..81897999,2	K562	blood:
2	chr14:81685691..81688551-chr14:81879364..81882605,3	K562	blood:
3	chr14:81880605..81883337-chr14:81885961..81888667,2	K562	blood:
4	chr14:81685671..81687321-chr14:81879290..81881702,3	MCF-7	breast:
5	chr14:81875040..81877398-chr14:81879695..81881536,2	K562	blood:
6	chr14:81876702..81879078-chr14:81892366..81894170,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258605	TF binding region
ENSG00000258605	CpG island
ENSG00000140022	chromatin interactions
ENSG00000165417	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76880282	chr14:81878212-81878213	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs184432730	chr14:81878219-81878220	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs73341986	chr14:81878231-81878232	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs566368548	chr14:81878274-81878275	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs75205558	chr14:81878295-81878296	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566698708	chr14:81878391-81878392	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs116325784	chr14:81878406-81878407	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187625226	chr14:81878423-81878424	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568068998	chr14:81878441-81878442	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375102461	chr14:81878458-81878459	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535419027	chr14:81878511-81878512	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs57918115	chr14:81878569-81878570	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs193056694	chr14:81878598-81878599	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185871857	chr14:81878683-81878684	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558098771	chr14:81878687-81878688	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573033291	chr14:81878717-81878718	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140720770	chr14:81878720-81878721	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562208789	chr14:81878745-81878746	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs8008519	chr14:81878746-81878747	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368480496	chr14:81878761-81878762	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs544579004	chr14:81878775-81878776	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2371598	chr14:81878795-81878796	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs555305551	chr14:81878818-81878819	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189134846	chr14:81878835-81878836	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536914427	chr14:81878849-81878850	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551625174	chr14:81878915-81878916	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs560425021	chr14:81878934-81878935	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs113351894	chr14:81878950-81878951	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs527842078	chr14:81879014-81879015	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs549361714	chr14:81879024-81879025	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs180702532	chr14:81879067-81879068	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs183624189	chr14:81879088-81879089	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs573978929	chr14:81879108-81879109	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs535222975	chr14:81879126-81879127	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs150857052	chr14:81879139-81879140	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs556401677	chr14:81879149-81879150	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs139321163	chr14:81879191-81879192	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs539449217	chr14:81879215-81879216	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs150005336	chr14:81879231-81879232	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs573220492	chr14:81879247-81879248	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs553320229	chr14:81879248-81879249	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs533980707	chr14:81879268-81879269	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs111470810	chr14:81879278-81879279	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs555308567	chr14:81879297-81879298	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs574058422	chr14:81879313-81879314	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs188428119	chr14:81879320-81879321	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556256583	chr14:81879337-81879338	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs145585671	chr14:81879346-81879347	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181244174	chr14:81879351-81879352	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs560412780	chr14:81879354-81879355	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81836400-81885800	Weak transcription	Gastric	stomach
2	chr14:81852800-81899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:81861400-81889400	Weak transcription	Fetal Kidney	kidney
4	chr14:81862800-81881400	Weak transcription	Fetal Intestine Small	intestine
5	chr14:81864400-81893600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:81865000-81884600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:81865000-81885600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:81865000-81889400	Weak transcription	Ovary	ovary
9	chr14:81865000-81892400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:81867600-81892000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:81867800-81889800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:81868400-81884000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:81868800-81881600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:81868800-81893600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:81869200-81879200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:81869400-81880600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:81873400-81879200	Weak transcription	Placenta	Placenta
18	chr14:81873400-81880400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:81873600-81878400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:81873600-81878400	Weak transcription	HSMMtube	muscle
21	chr14:81873600-81886000	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:81874000-81880400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:81874000-81880800	Weak transcription	Psoas Muscle	Psoas
24	chr14:81874000-81882800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:81874400-81882600	Weak transcription	Adipose Nuclei	Adipose
26	chr14:81874800-81892600	Weak transcription	Hela-S3	cervix
27	chr14:81876400-81878600	Weak transcription	K562	blood
28	chr14:81876800-81884200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:81877600-81879200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:81877800-81878600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:81877800-81879200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:81877800-81879200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:81878400-81879800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:81878600-81879600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
35	chr14:81878600-81881200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:81878600-81882000	Strong transcription	K562	blood
37	chr14:81878800-81879200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr14:81878800-81879400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr14:81879200-81879400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:81879200-81879400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:81879200-81879400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:81879200-81879400	Bivalent Enhancer	Placenta	Placenta
43	chr14:81879200-81879600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:81879200-81880800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr14:81879200-81881200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:81879400-81880800	Weak transcription	Placenta	Placenta
47	chr14:81879400-81884600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:81879400-81885800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr14:81879600-81880600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:81879800-81880600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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