Variant report

Variant	esv3378177
Chromosome Location	chr14:36989603-36989894
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	BACH1	chr14:36989745-36989957	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr14:36989884-36990055	HepG2	liver:	n/a	n/a
3	CHD2	chr14:36989868-36990044	HepG2	liver:	n/a	chr14:36989894-36989904
4	CTBP2	chr14:36987100-36990550	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr14:36989840-36989990	A549	lung:	n/a	chr14:36989958-36989971
6	CTCF	chr14:36989800-36989950	GM12872	blood:	n/a	n/a
7	CTCF	chr14:36989840-36989990	NB4	blood:	n/a	chr14:36989958-36989971
8	CTCF	chr14:36989800-36989950	GM12866	blood:	n/a	n/a
9	CTCF	chr14:36989832-36990138	K562	blood:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
10	CTCF	chr14:36989848-36990088	MCF-7	breast:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
11	CTCF	chr14:36989886-36990073	HepG2	liver:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
12	CTCF	chr14:36989890-36990067	GM19238	blood:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
13	CTCF	chr14:36989880-36990030	GM12867	blood:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
14	CTCF	chr14:36989860-36990010	NHEK	skin:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
15	CTCF	chr14:36989840-36990095	MCF-7	breast:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
16	CTCF	chr14:36989860-36990010	AoAF	blood vessel:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
17	CTCF	chr14:36989883-36990083	GM12878	blood:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
18	CTCF	chr14:36989840-36989990	GM12869	blood:	n/a	chr14:36989958-36989971
19	CTCF	chr14:36989820-36989970	AG04450	lung:	n/a	n/a
20	CTCF	chr14:36989860-36990010	HUVEC	blood vessel:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
21	CTCF	chr14:36989184-36990314	A549	lung:	n/a	chr14:36989542-36989555 chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
22	CTCF	chr14:36989880-36990030	AG04450	lung:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
23	CTCF	chr14:36989540-36989690	HCT-116	colon:	n/a	chr14:36989542-36989555
24	CTCF	chr14:36989820-36989970	HFF	foreskin:	n/a	n/a
25	CTCF	chr14:36989880-36990030	HPAF	blood vessel:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
26	CTCF	chr14:36989733-36990127	MCF-7	breast:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
27	CTCF	chr14:36989880-36990030	SAEC	small airway:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
28	CTCF	chr14:36989880-36990030	HFF-Myc	foreskin:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
29	CTCF	chr14:36989880-36990030	GM12872	blood:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
30	CTCF	chr14:36989860-36990010	AG04449	skin:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
31	CTCF	chr14:36989826-36990093	MCF-7	breast:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
32	CTCF	chr14:36989838-36990086	MCF-7	breast:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
33	CTCF	chr14:36989841-36990099	Gliobla	brain:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
34	CTCF	chr14:36989855-36990139	H1-hESC	embryonic stem cell:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
35	CTCF	chr14:36989860-36990010	GM12864	blood:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
36	CTCF	chr14:36989882-36990051	Hela-S3	cervix:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
37	CTCF	chr14:36989860-36990010	HA-sp	spinal cord:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
38	CTCF	chr14:36989860-36990010	AG10803	skin:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
39	CTCF	chr14:36989854-36990146	HepG2	liver:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
40	CTCF	chr14:36989820-36989970	HVMF	connective:	n/a	n/a
41	CTCF	chr14:36989840-36989990	GM12868	blood:	n/a	chr14:36989958-36989971
42	CTCF	chr14:36989856-36990055	Fibrobl	skin:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
43	CTCF	chr14:36989820-36989970	BE2_C	brain:	n/a	n/a
44	CTCF	chr14:36989860-36990010	HPAF	blood vessel:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
45	CTCF	chr14:36989880-36990030	HAc	cerebellar:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
46	CTCF	chr14:36989840-36989990	HRE	kidney:	n/a	chr14:36989958-36989971
47	CTCF	chr14:36989873-36990096	LNCaP	prostate:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
48	CTCF	chr14:36989880-36990030	HEEpiC	esophagus:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
49	CTCF	chr14:36989800-36990171	HepG2	liver:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
50	CTCF	chr14:36989460-36989610	HMEC	breast:	n/a	chr14:36989542-36989555

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:36989850-36989900	BJ	skin:	n/a
2	chr14:36989588-36989638	SKMC	muscle:	n/a
3	chr14:36989588-36989638	HUVEC	blood vessel:	n/a
4	chr14:36989850-36989900	HIPEpiC	eye:	n/a
5	chr14:36989850-36989900	HPAEpiC	pulmonary alveolar:	n/a
6	chr14:36989850-36989900	MCF10A-Er-Src	breast:	n/a
7	chr14:36989588-36989638	RPTEC	kidney:	n/a
8	chr14:36989850-36989900	HCM	heart:	n/a
9	chr14:36989850-36989900	NB4	blood:	n/a
10	chr14:36989588-36989638	NH-A	brain:	n/a
11	chr14:36989588-36989638	HEK293	kidney:	embryo
12	chr14:36989588-36989638	GM12892	blood:	n/a
13	chr14:36989588-36989638	BE2_C	brain:	n/a
14	chr14:36989850-36989900	IMR90	lung:	fetal
15	chr14:36989588-36989638	PFSK-1	brain:	n/a
16	chr14:36989850-36989900	SAEC	small airway:	n/a
17	chr14:36989850-36989900	PANC-1	pancreas:	n/a
18	chr14:36989850-36989900	HUVEC	blood vessel:	n/a
19	chr14:36989588-36989638	K562	blood:	n/a
20	chr14:36989588-36989638	AG04450	lung:	fetal
21	chr14:36989588-36989638	T-47D	breast:	n/a
22	chr14:36989588-36989638	PrEC	prostate:	n/a
23	chr14:36989588-36989638	IMR90	lung:	fetal
24	chr14:36989588-36989638	Jurkat	blood:	n/a
25	chr14:36989588-36989638	HEEpiC	esophagus:	n/a
26	chr14:36989850-36989900	SK-N-MC	brain:	n/a
27	chr14:36989588-36989638	HCF	heart:	n/a
28	chr14:36989850-36989900	GM12878	blood:	n/a
29	chr14:36989588-36989638	HRCEpiC	kidney:	n/a
30	chr14:36989850-36989900	NHDF-neo	bronchial:	n/a
31	chr14:36989850-36989900	CMK	blood:	n/a
32	chr14:36989588-36989638	ProgFib	skin:	n/a
33	chr14:36989588-36989638	NHBE	bronchial:	n/a
34	chr14:36989588-36989638	NT2-D1	testis:	n/a
35	chr14:36989850-36989900	HL-60	blood:	n/a
36	chr14:36989850-36989900	HMEC	breast:	n/a
37	chr14:36989588-36989638	HL-60	blood:	n/a
38	chr14:36989588-36989638	SK-N-MC	brain:	n/a
39	chr14:36989588-36989638	NHDF-neo	bronchial:	n/a
40	chr14:36989850-36989900	LNCaP	prostate:	n/a
41	chr14:36989850-36989900	HEEpiC	esophagus:	n/a
42	chr14:36989588-36989638	HepG2	liver:	n/a
43	chr14:36989850-36989900	SK-N-SH_RA	brain:	n/a
44	chr14:36989588-36989638	H1-hESC	embryonic stem cell:	embryo
45	chr14:36989850-36989900	HRCEpiC	kidney:	n/a
46	chr14:36989850-36989900	HCPEpiC	choroid plexus:	n/a
47	chr14:36989588-36989638	CMK	blood:	n/a
48	chr14:36989850-36989900	NHBE	bronchial:	n/a
49	chr14:36989588-36989638	GM06990	blood:	n/a
50	chr14:36989850-36989900	SK-N-SH	brain:	n/a

Variant related genes	Relation type
NKX2-1	TF binding region
ENSG00000257520	TF binding region
NKX2-1	CpG island
ENSG00000257520	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71409598	chr14:36989638-36989639	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2075579	chr14:36989652-36989653	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs71124757	chr14:36989656-36989657	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs80248069	chr14:36989657-36989658	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs146920886	chr14:36989670-36989671	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs200984557	chr14:36989691-36989692	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs79781382	chr14:36989696-36989697	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs544959300	chr14:36989724-36989725	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs137903650	chr14:36989799-36989800	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs572138517	chr14:36989806-36989807	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs2075578	chr14:36989849-36989850	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560414156	chr14:36989850-36989851	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
13	rs529051229	chr14:36989853-36989854	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
14	rs549165861	chr14:36989875-36989876	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36981400-36991200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:36986400-36989800	Enhancers	Gastric	stomach
3	chr14:36986400-36989800	Enhancers	Pancreas	Pancrea
4	chr14:36987800-36989800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr14:36988000-36990400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:36988200-36989800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
7	chr14:36988200-36990000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
8	chr14:36988200-36990200	Bivalent/Poised TSS	HSMM	muscle
9	chr14:36988200-36990400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr14:36988200-36990400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:36988200-36990400	Bivalent Enhancer	Placenta	Placenta
12	chr14:36988200-36990600	Bivalent/Poised TSS	Fetal Lung	lung
13	chr14:36988400-36990400	Bivalent Enhancer	HUVEC	blood vessel
14	chr14:36988400-36990600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr14:36988400-36991000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
16	chr14:36988600-36989800	Bivalent/Poised TSS	Right Ventricle	heart
17	chr14:36988600-36990000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr14:36988600-36990200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr14:36988800-36989800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:36988800-36989800	Active TSS	Ovary	ovary
21	chr14:36988800-36990400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr14:36988800-36990400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:36988800-36990400	Bivalent Enhancer	Left Ventricle	heart
24	chr14:36988800-36990400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
25	chr14:36988800-36990400	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr14:36988800-36991200	Bivalent Enhancer	Fetal Stomach	stomach
27	chr14:36989000-36989800	Bivalent Enhancer	Brain Substantia Nigra	brain
28	chr14:36989000-36990400	Bivalent/Poised TSS	A549	lung
29	chr14:36989200-36989800	Bivalent/Poised TSS	Fetal Brain Female	brain
30	chr14:36989200-36989800	Bivalent/Poised TSS	HepG2	liver
31	chr14:36989200-36990000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr14:36989200-36990000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:36989200-36990200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:36989200-36991200	Bivalent Enhancer	Fetal Brain Male	brain
35	chr14:36989400-36989800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
36	chr14:36989400-36989800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:36989400-36989800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr14:36989400-36989800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:36989400-36989800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:36989400-36989800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:36989400-36989800	Bivalent Enhancer	Adipose Nuclei	Adipose
42	chr14:36989400-36989800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
43	chr14:36989400-36989800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
44	chr14:36989400-36989800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
45	chr14:36989400-36989800	Bivalent Enhancer	Colonic Mucosa	Colon
46	chr14:36989400-36989800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
47	chr14:36989400-36989800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
48	chr14:36989400-36989800	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr14:36989400-36989800	Bivalent Enhancer	Psoas Muscle	Psoas
50	chr14:36989400-36989800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle

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