Variant report

Variant	esv3398169
Chromosome Location	chr1:114449767-114450134
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr1:114449662-114449791	K562	blood:	n/a	n/a
2	ZNF384	chr1:114449698-114449803	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:114449926-114449976	CMK	blood:	n/a
2	chr1:114449926-114449976	HIPEpiC	eye:	n/a
3	chr1:114449926-114449976	HMEC	breast:	n/a
4	chr1:114449926-114449976	HPAEpiC	pulmonary alveolar:	n/a
5	chr1:114449926-114449976	HCPEpiC	choroid plexus:	n/a
6	chr1:114449926-114449976	LNCaP	prostate:	n/a
7	chr1:114449926-114449976	BE2_C	brain:	n/a
8	chr1:114449926-114449976	Hela-S3	cervix:	n/a
9	chr1:114449926-114449976	GM12892	blood:	n/a
10	chr1:114449926-114449976	SK-N-MC	brain:	n/a
11	chr1:114449926-114449976	SAEC	small airway:	n/a
12	chr1:114449926-114449976	NHDF-neo	bronchial:	n/a
13	chr1:114449926-114449976	SK-N-SH	brain:	n/a
14	chr1:114449926-114449976	GM19239	blood:	n/a
15	chr1:114449926-114449976	HEEpiC	esophagus:	n/a
16	chr1:114449926-114449976	MCF-7	breast:	n/a
17	chr1:114449926-114449976	Hepatocyte	liver:	n/a
18	chr1:114449926-114449976	GM06990	blood:	n/a
19	chr1:114449926-114449976	BJ	skin:	n/a
20	chr1:114449926-114449976	ProgFib	skin:	n/a
21	chr1:114449926-114449976	T-47D	breast:	n/a
22	chr1:114449926-114449976	NHBE	bronchial:	n/a
23	chr1:114449926-114449976	U87	brain:	n/a
24	chr1:114449926-114449976	AG09319	gingival:	n/a
25	chr1:114449926-114449976	HRE	kidney:	n/a
26	chr1:114449926-114449976	H1-hESC	embryonic stem cell:	embryo
27	chr1:114449926-114449976	MCF10A-Er-Src	breast:	n/a
28	chr1:114449926-114449976	Caco-2	colon:	n/a
29	chr1:114449926-114449976	HL-60	blood:	n/a
30	chr1:114449926-114449976	AoSMC	blood vessel:	n/a
31	chr1:114449926-114449976	ECC-1	luminal epithelium:	n/a
32	chr1:114449926-114449976	HNPCEpiC	eye:	n/a
33	chr1:114449926-114449976	AG04449	skin:	fetal
34	chr1:114449926-114449976	HRPEpiC	eye:	n/a
35	chr1:114449926-114449976	AG09309	skin:	n/a
36	chr1:114449926-114449976	PrEC	prostate:	n/a
37	chr1:114449926-114449976	PANC-1	pancreas:	n/a
38	chr1:114449926-114449976	GM12878	blood:	n/a
39	chr1:114449926-114449976	NB4	blood:	n/a
40	chr1:114449926-114449976	HCF	heart:	n/a
41	chr1:114449926-114449976	HAEpiC	amniotic membrane:	n/a
42	chr1:114449926-114449976	A549	lung:	n/a
43	chr1:114449926-114449976	NH-A	brain:	n/a
44	chr1:114449926-114449976	AG04450	lung:	fetal
45	chr1:114449926-114449976	Jurkat	blood:	n/a
46	chr1:114449926-114449976	K562	blood:	n/a
47	chr1:114449926-114449976	IMR90	lung:	fetal
48	chr1:114449926-114449976	HCM	heart:	n/a
49	chr1:114449926-114449976	HEK293	kidney:	embryo
50	chr1:114449926-114449976	PFSK-1	brain:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114352306..114358140-chr1:114445806..114450844,18	MCF-7	breast:
2	chr1:114449671..114451992-chr1:114516698..114518911,2	MCF-7	breast:
3	chr1:114352137..114357235-chr1:114445065..114452395,18	MCF-7	breast:
4	chr1:114449032..114451471-chr13:20531152..20533665,2	MCF-7	breast:
5	chr1:114444168..114452207-chr1:114466193..114476714,61	K562	blood:

No data

Variant related genes	Relation type
AP4B1	TF binding region
AP4B1	CpG island
ENSG00000231128	chromatin interactions
ENSG00000235527	chromatin interactions
ENSG00000081019	chromatin interactions
ENSG00000121741	chromatin interactions
ENSG00000163349	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530697487	chr1:114449782-114449783	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs539537411	chr1:114449811-114449812	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs558295215	chr1:114449815-114449816	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs76069885	chr1:114449826-114449827	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs11102701	chr1:114449829-114449830	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535447114	chr1:114449838-114449839	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs555741055	chr1:114449843-114449844	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs572322875	chr1:114449845-114449846	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs369506973	chr1:114449856-114449857	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs371469455	chr1:114449857-114449858	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs534960663	chr1:114449865-114449866	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs192364190	chr1:114449877-114449878	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs142647575	chr1:114449887-114449888	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs543481540	chr1:114449926-114449927	Weak transcription Strong transcription Enhancers Genic enhancers	CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs528405786	chr1:114449941-114449942	Weak transcription Strong transcription Enhancers Genic enhancers	CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs111426770	chr1:114449971-114449972	Weak transcription Strong transcription Enhancers Genic enhancers	CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs563211648	chr1:114449990-114449991	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs35658964	chr1:114450009-114450010	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs573698513	chr1:114450021-114450022	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs114661042	chr1:114450022-114450023	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs564543972	chr1:114450029-114450030	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs558930093	chr1:114450041-114450042	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs527976740	chr1:114450052-114450053	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs183361339	chr1:114450065-114450066	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs564325809	chr1:114450113-114450114	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs533390541	chr1:114450128-114450129	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114445600-114449800	Active TSS	GM12878-XiMat	blood
2	chr1:114448600-114449800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:114448600-114449800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:114448600-114449800	Enhancers	Primary T cells from cord blood	blood
5	chr1:114448600-114449800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:114448600-114449800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:114448600-114449800	Enhancers	Brain Anterior Caudate	brain
8	chr1:114448600-114449800	Enhancers	Brain Hippocampus Middle	brain
9	chr1:114448600-114449800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:114448600-114449800	Enhancers	Lung	lung
11	chr1:114448600-114449800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr1:114448600-114450000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:114448600-114450200	Weak transcription	Brain Angular Gyrus	brain
14	chr1:114448600-114450400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:114448600-114450400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:114448600-114450600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:114448600-114450600	Weak transcription	Esophagus	oesophagus
18	chr1:114448600-114450600	Weak transcription	HSMMtube	muscle
19	chr1:114448600-114451000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:114448600-114452800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:114448600-114452800	Weak transcription	Brain Substantia Nigra	brain
22	chr1:114448600-114453200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:114448600-114453200	Weak transcription	Gastric	stomach
24	chr1:114448600-114453600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:114448600-114453600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:114448600-114453800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:114448600-114453800	Weak transcription	Aorta	Aorta
28	chr1:114448600-114453800	Weak transcription	Pancreas	Pancrea
29	chr1:114448600-114453800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:114448600-114454200	Weak transcription	Small Intestine	intestine
31	chr1:114448600-114455000	Weak transcription	Fetal Heart	heart
32	chr1:114448600-114455200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:114448600-114455200	Weak transcription	Psoas Muscle	Psoas
34	chr1:114448600-114455400	Weak transcription	Right Ventricle	heart
35	chr1:114448600-114456000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:114448600-114456600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr1:114448600-114461400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr1:114448800-114449800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:114448800-114449800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr1:114448800-114449800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:114448800-114449800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:114448800-114449800	Enhancers	HUVEC	blood vessel
43	chr1:114448800-114450200	Weak transcription	Osteobl	bone
44	chr1:114448800-114450400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:114448800-114450400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:114448800-114450400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:114448800-114450800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:114448800-114450800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:114448800-114451200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:114448800-114451400	Weak transcription	NHDF-Ad	bronchial

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