Variant report

Variant	nsv576810
Chromosome Location	chr18:43305785-43307553
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:43307266-43307601	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr18:43307274-43307671	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr18:43307323-43307390	MCF-7	breast:	n/a	n/a
4	POLR2A	chr18:43307163-43307215	ProgFib	skin:	n/a	n/a
5	POLR2A	chr18:43307183-43307522	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr18:43307317-43307402	ProgFib	skin:	n/a	n/a
7	POLR2A	chr18:43307168-43307779	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr18:43307220-43307460	K562	blood:	n/a	n/a
9	TAF7	chr18:43307312-43307700	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:43306919-43306969	Hepatocyte	liver:	n/a
2	chr18:43305784-43305834	HRCEpiC	kidney:	n/a
3	chr18:43306919-43306969	AG04450	lung:	fetal
4	chr18:43305784-43305834	Hela-S3	cervix:	n/a
5	chr18:43305784-43305834	HRPEpiC	eye:	n/a
6	chr18:43305784-43305834	AG10803	skin:	n/a
7	chr18:43305784-43305834	GM12892	blood:	n/a
8	chr18:43306919-43306969	AG10803	skin:	n/a
9	chr18:43306919-43306969	AG09319	gingival:	n/a
10	chr18:43306919-43306969	GM06990	blood:	n/a
11	chr18:43306919-43306969	NHBE	bronchial:	n/a
12	chr18:43305784-43305834	BJ	skin:	n/a
13	chr18:43305784-43305834	PANC-1	pancreas:	n/a
14	chr18:43306919-43306969	HUVEC	blood vessel:	n/a
15	chr18:43305784-43305834	IMR90	lung:	fetal
16	chr18:43305784-43305834	HPAEpiC	pulmonary alveolar:	n/a
17	chr18:43305784-43305834	HEEpiC	esophagus:	n/a
18	chr18:43305784-43305834	HCT-116	colon:	n/a
19	chr18:43305784-43305834	HRE	kidney:	n/a
20	chr18:43306919-43306969	SK-N-SH	brain:	n/a
21	chr18:43306919-43306969	NB4	blood:	n/a
22	chr18:43305784-43305834	T-47D	breast:	n/a
23	chr18:43305784-43305834	NHDF-neo	bronchial:	n/a
24	chr18:43306919-43306969	MCF-7	breast:	n/a
25	chr18:43306919-43306969	ovcar-3	ovarian:	n/a
26	chr18:43305784-43305834	H1-hESC	embryonic stem cell:	embryo
27	chr18:43306919-43306969	SAEC	small airway:	n/a
28	chr18:43306919-43306969	U87	brain:	n/a
29	chr18:43306919-43306969	HCPEpiC	choroid plexus:	n/a
30	chr18:43306919-43306969	CMK	blood:	n/a
31	chr18:43306919-43306969	K562	blood:	n/a
32	chr18:43305784-43305834	SKMC	muscle:	n/a
33	chr18:43306919-43306969	PFSK-1	brain:	n/a
34	chr18:43305784-43305834	AoSMC	blood vessel:	n/a
35	chr18:43305784-43305834	PrEC	prostate:	n/a
36	chr18:43305784-43305834	HAEpiC	amniotic membrane:	n/a
37	chr18:43305784-43305834	Jurkat	blood:	n/a
38	chr18:43306919-43306969	GM12878	blood:	n/a
39	chr18:43305784-43305834	GM19239	blood:	n/a
40	chr18:43305784-43305834	HCM	heart:	n/a
41	chr18:43305784-43305834	GM12878	blood:	n/a
42	chr18:43305784-43305834	HNPCEpiC	eye:	n/a
43	chr18:43306919-43306969	NT2-D1	testis:	n/a
44	chr18:43306919-43306969	AoSMC	blood vessel:	n/a
45	chr18:43305784-43305834	HCPEpiC	choroid plexus:	n/a
46	chr18:43306919-43306969	HEEpiC	esophagus:	n/a
47	chr18:43305784-43305834	ProgFib	skin:	n/a
48	chr18:43306919-43306969	HRPEpiC	eye:	n/a
49	chr18:43306919-43306969	HCM	heart:	n/a
50	chr18:43305784-43305834	NHBE	bronchial:	n/a

No data

Variant related genes	Relation type
SLC14A1	TF binding region
SLC14A1	CpG island

Extended variants
information (count: 74 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16978469	chr18:43305785-43305786	Enhancers Weak transcription Flanking Active TSS Active TSS	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541022483	chr18:43305788-43305789	Enhancers Weak transcription Flanking Active TSS Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs75563829	chr18:43305823-43305824	Weak transcription Enhancers Flanking Active TSS Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs530121650	chr18:43305859-43305860	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs80283900	chr18:43305901-43305902	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs148073638	chr18:43305922-43305923	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs530679487	chr18:43305927-43305928	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs552510605	chr18:43306010-43306011	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs140939507	chr18:43306011-43306012	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs77966745	chr18:43306027-43306028	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs546260542	chr18:43306163-43306164	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs568011684	chr18:43306236-43306237	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs535216983	chr18:43306254-43306255	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs34052231	chr18:43306295-43306296	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs556968877	chr18:43306323-43306324	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs570163075	chr18:43306374-43306375	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs386802848	chr18:43306418-43306419	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs537236822	chr18:43306437-43306438	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs558870243	chr18:43306453-43306454	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs35861357	chr18:43306470-43306471	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs28994272	chr18:43306507-43306508	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs146125407	chr18:43306510-43306511	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs112975859	chr18:43306562-43306563	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs200800985	chr18:43306594-43306595	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs553109174	chr18:43306603-43306604	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs74504906	chr18:43306657-43306658	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs7233769	chr18:43306681-43306682	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs190000183	chr18:43306732-43306733	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs530767712	chr18:43306742-43306743	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs546020015	chr18:43306772-43306773	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs7234310	chr18:43306793-43306794	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs528407823	chr18:43306794-43306795	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs546842730	chr18:43306800-43306801	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs567963910	chr18:43306826-43306827	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs542395588	chr18:43306852-43306853	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs111991423	chr18:43306880-43306881	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs10432192	chr18:43306891-43306892	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568608640	chr18:43306892-43306893	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs28994273	chr18:43306899-43306900	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs552337433	chr18:43307058-43307059	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs570676784	chr18:43307061-43307062	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs10432193	chr18:43307072-43307073	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs553584755	chr18:43307075-43307076	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs574752711	chr18:43307118-43307119	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs535833772	chr18:43307155-43307156	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs557223146	chr18:43307159-43307160	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs181104308	chr18:43307199-43307200	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs546282568	chr18:43307219-43307220	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs186174528	chr18:43307221-43307222	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs565094121	chr18:43307229-43307230	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Hepatocellular carcinoma	16750200	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Breast cancer	21509527	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
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43290200-43323000	Weak transcription	Primary B cells from cord blood	blood
2	chr18:43292800-43311200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr18:43293400-43307000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:43296000-43311200	Weak transcription	A549	lung
5	chr18:43296000-43319400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr18:43296000-43325600	Weak transcription	Primary T cells from cord blood	blood
7	chr18:43302800-43307000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:43303000-43306800	Weak transcription	NH-A	brain
9	chr18:43303600-43309400	Flanking Active TSS	Osteobl	bone
10	chr18:43303800-43306000	Active TSS	Aorta	Aorta
11	chr18:43304000-43306000	Active TSS	Brain Hippocampus Middle	brain
12	chr18:43304000-43306200	Active TSS	Brain Cingulate Gyrus	brain
13	chr18:43304000-43306400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr18:43304000-43307400	Active TSS	Brain Anterior Caudate	brain
15	chr18:43304200-43305800	Active TSS	NHLF	lung
16	chr18:43304200-43306000	Active TSS	Brain Angular Gyrus	brain
17	chr18:43304200-43307600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr18:43304400-43307200	Active TSS	Brain Substantia Nigra	brain
19	chr18:43304800-43306000	Enhancers	NHDF-Ad	bronchial
20	chr18:43304800-43309400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr18:43305000-43331200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr18:43305200-43306400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:43305400-43305800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr18:43305600-43305800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr18:43305600-43306800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr18:43305600-43306800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr18:43305600-43307400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr18:43305800-43306000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:43305800-43306800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr18:43305800-43307800	Weak transcription	NHLF	lung
31	chr18:43306000-43306200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr18:43306000-43308000	Weak transcription	NHDF-Ad	bronchial
33	chr18:43306000-43311200	Weak transcription	Brain Hippocampus Middle	brain
34	chr18:43306000-43317200	Weak transcription	Brain Angular Gyrus	brain
35	chr18:43306000-43318800	Weak transcription	Aorta	Aorta
36	chr18:43306200-43306400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr18:43306200-43307200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr18:43306400-43306800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr18:43306400-43306800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr18:43306800-43307200	Enhancers	NH-A	brain
41	chr18:43306800-43307400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr18:43306800-43307600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr18:43306800-43308600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr18:43306800-43309200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr18:43306800-43313000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr18:43307000-43307400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr18:43307000-43307600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr18:43307200-43307600	Active TSS	Brain Cingulate Gyrus	brain
49	chr18:43307200-43307600	Flanking Active TSS	NH-A	brain
50	chr18:43307200-43320800	Weak transcription	Brain Substantia Nigra	brain

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