Variant report

Variant	esv3358262
Chromosome Location	chr18:45460344-45464204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:62)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr18:45463211-45463521	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr18:45462360-45462510	GM12866	blood:	n/a	n/a
3	EBF1	chr18:45463408-45463638	GM12878	blood:	n/a	n/a
4	MAX	chr18:45463357-45463725	NB4	blood:	n/a	n/a
5	MYC	chr18:45463092-45463720	NB4	blood:	n/a	n/a
6	POLR2A	chr18:45463340-45463467	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr18:45463065-45463895	HL-60	blood:	n/a	n/a
8	POLR2A	chr18:45460950-45460973	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr18:45461275-45461402	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr18:45461971-45462176	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr18:45462977-45463084	MCF10A-Er-Src	breast:	n/a	n/a
12	SPI1	chr18:45462936-45464057	HL-60	blood:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:45461015-45461065	PFSK-1	brain:	n/a
2	chr18:45461015-45461065	PFSK-1	brain:	n/a
3	chr18:45461015-45461065	ProgFib	skin:	n/a
4	chr18:45461015-45461065	SK-N-MC	brain:	n/a
5	chr18:45461015-45461065	HAEpiC	amniotic membrane:	n/a
6	chr18:45461015-45461065	NHDF-neo	bronchial:	n/a
7	chr18:45461015-45461065	GM19239	blood:	n/a
8	chr18:45461015-45461065	HCM	heart:	n/a
9	chr18:45461015-45461065	SKMC	muscle:	n/a
10	chr18:45461015-45461065	HCF	heart:	n/a
11	chr18:45461015-45461065	H1-hESC	embryonic stem cell:	embryo
12	chr18:45461015-45461065	AG04449	skin:	fetal
13	chr18:45461015-45461065	BE2_C	brain:	n/a
14	chr18:45461015-45461065	SK-N-SH	brain:	n/a
15	chr18:45461015-45461065	HRCEpiC	kidney:	n/a
16	chr18:45461015-45461065	PANC-1	pancreas:	n/a
17	chr18:45461015-45461065	HEEpiC	esophagus:	n/a
18	chr18:45461015-45461065	HNPCEpiC	eye:	n/a
19	chr18:45461015-45461065	HRPEpiC	eye:	n/a
20	chr18:45461015-45461065	RPTEC	kidney:	n/a
21	chr18:45461015-45461065	AG09309	skin:	n/a
22	chr18:45461015-45461065	A549	lung:	n/a
23	chr18:45461015-45461065	GM12892	blood:	n/a
24	chr18:45461015-45461065	NT2-D1	testis:	n/a
25	chr18:45461015-45461065	HEK293	kidney:	embryo
26	chr18:45461015-45461065	AG04450	lung:	fetal
27	chr18:45461015-45461065	Hela-S3	cervix:	n/a
28	chr18:45461015-45461065	Hepatocyte	liver:	n/a
29	chr18:45461015-45461065	BJ	skin:	n/a
30	chr18:45461015-45461065	AG10803	skin:	n/a
31	chr18:45461015-45461065	NH-A	brain:	n/a
32	chr18:45461015-45461065	MCF10A-Er-Src	breast:	n/a
33	chr18:45461015-45461065	MCF-7	breast:	n/a
34	chr18:45461015-45461065	GM12878	blood:	n/a
35	chr18:45461015-45461065	Caco-2	colon:	n/a
36	chr18:45461015-45461065	HepG2	liver:	n/a
37	chr18:45461015-45461065	HL-60	blood:	n/a
38	chr18:45461015-45461065	K562	blood:	n/a
39	chr18:45461015-45461065	T-47D	breast:	n/a
40	chr18:45461015-45461065	SAEC	small airway:	n/a
41	chr18:45461015-45461065	SK-N-SH_RA	brain:	n/a
42	chr18:45461015-45461065	NHBE	bronchial:	n/a
43	chr18:45461015-45461065	PrEC	prostate:	n/a
44	chr18:45461015-45461065	HCT-116	colon:	n/a
45	chr18:45461015-45461065	GM06990	blood:	n/a
46	chr18:45461015-45461065	AG09319	gingival:	n/a
47	chr18:45461015-45461065	HRE	kidney:	n/a
48	chr18:45461015-45461065	CMK	blood:	n/a
49	chr18:45461015-45461065	IMR90	lung:	fetal
50	chr18:45461015-45461065	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr18:45458331..45460939-chr18:45561622..45564314,2	K562	blood:
2	chr18:45457328..45461000-chr18:45463318..45467382,5	MCF-7	breast:
3	chr18:45456285..45458398-chr18:45460688..45463962,5	MCF-7	breast:
4	chr18:45455692..45459621-chr18:45464171..45467892,5	MCF-7	breast:
5	chr18:45462473..45465450-chr18:45470431..45471984,2	MCF-7	breast:
6	chr18:45464052..45466510-chr18:45483105..45484991,2	K562	blood:
7	chr18:45423330..45425218-chr18:45460389..45462320,2	K562	blood:
8	chr18:45300220..45301757-chr18:45459466..45461739,2	MCF-7	breast:
9	chr18:45455293..45460284-chr18:45461737..45465980,6	K562	blood:
10	chr18:45459837..45461431-chr18:45533159..45534772,2	MCF-7	breast:

No data

Variant related genes	Relation type
SMAD2	TF binding region
SMAD2	CpG island
ENSG00000175387	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555613139	chr18:45460363-45460364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200226818	chr18:45460381-45460382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540946544	chr18:45460386-45460387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532507299	chr18:45460398-45460399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572222109	chr18:45460415-45460416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554443247	chr18:45460426-45460427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75557743	chr18:45460430-45460431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574608033	chr18:45460440-45460441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543541307	chr18:45460453-45460454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs8095519	chr18:45460472-45460473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs557732779	chr18:45460563-45460564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532655461	chr18:45460608-45460609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546178245	chr18:45460613-45460614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149609421	chr18:45460620-45460621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190850166	chr18:45460631-45460632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528773577	chr18:45460635-45460636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548899592	chr18:45460678-45460679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200929803	chr18:45460796-45460797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563114662	chr18:45460805-45460806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11382194	chr18:45460813-45460814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562134600	chr18:45460837-45460838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149482271	chr18:45460866-45460867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143909632	chr18:45461016-45461017	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs148600520	chr18:45461106-45461107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374071480	chr18:45461212-45461213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551731066	chr18:45461222-45461223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184037358	chr18:45461228-45461229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577574918	chr18:45461254-45461255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543801922	chr18:45461290-45461291	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs570575914	chr18:45461307-45461308	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs187772449	chr18:45461320-45461321	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs554887472	chr18:45461330-45461331	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs563985788	chr18:45461336-45461337	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs192398917	chr18:45461356-45461357	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs79094726	chr18:45461372-45461373	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs543221815	chr18:45461400-45461401	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs559959095	chr18:45461407-45461408	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs150685191	chr18:45461435-45461436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs116943214	chr18:45461473-45461474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs184731623	chr18:45461483-45461484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527386906	chr18:45461533-45461534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs140998666	chr18:45461536-45461537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs77307915	chr18:45461544-45461545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs144856625	chr18:45461553-45461554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570505830	chr18:45461554-45461555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573316392	chr18:45461659-45461660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187197408	chr18:45461701-45461702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147927318	chr18:45461815-45461816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs118074098	chr18:45461840-45461841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542575944	chr18:45461885-45461886	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Asthma	20841430	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45458200-45463400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr18:45458400-45461000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:45458400-45461800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:45458400-45463200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr18:45458400-45463400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:45458600-45460600	Enhancers	A549	lung
7	chr18:45458600-45462000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr18:45458600-45462000	Weak transcription	Brain Hippocampus Middle	brain
9	chr18:45458600-45462200	Weak transcription	Brain Angular Gyrus	brain
10	chr18:45458600-45462200	Weak transcription	Brain Anterior Caudate	brain
11	chr18:45458600-45463200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr18:45458600-45463400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr18:45458800-45460400	Enhancers	Thymus	Thymus
14	chr18:45458800-45460600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr18:45458800-45461000	Enhancers	Hela-S3	cervix
16	chr18:45458800-45461600	Weak transcription	Brain Substantia Nigra	brain
17	chr18:45458800-45461800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr18:45458800-45463400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr18:45458800-45463600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr18:45459000-45460600	Enhancers	Dnd41	blood
21	chr18:45459000-45462400	Weak transcription	Primary T cells from cord blood	blood
22	chr18:45459000-45463200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr18:45459000-45464800	Weak transcription	Pancreas	Pancrea
24	chr18:45459400-45462400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr18:45459600-45460800	Weak transcription	Gastric	stomach
26	chr18:45459600-45462200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr18:45459600-45462200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr18:45459600-45471600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr18:45459800-45462200	Weak transcription	Fetal Thymus	thymus
30	chr18:45459800-45463000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr18:45459800-45463200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr18:45459800-45464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:45459800-45464600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:45460200-45460400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr18:45460200-45460600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr18:45460400-45462600	Weak transcription	Thymus	Thymus
37	chr18:45460600-45461800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr18:45460600-45462200	Weak transcription	Dnd41	blood
39	chr18:45461000-45463200	Weak transcription	Hela-S3	cervix
40	chr18:45461000-45463600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr18:45461600-45462800	Enhancers	Brain Substantia Nigra	brain
42	chr18:45461800-45462200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr18:45461800-45462800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr18:45461800-45463400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr18:45462000-45462600	Enhancers	Brain Germinal Matrix	brain
46	chr18:45462000-45462800	Enhancers	Brain Cingulate Gyrus	brain
47	chr18:45462000-45462800	Enhancers	Brain Hippocampus Middle	brain
48	chr18:45462000-45463200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr18:45462200-45462600	Enhancers	Brain Anterior Caudate	brain
50	chr18:45462200-45462800	Enhancers	Brain Angular Gyrus	brain

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