Variant report

Variant	nsv1064892
Chromosome Location	chr18:45397130-45407820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:45400689..45404562-chr18:45404621..45407103,3	K562	blood:
2	chr18:45396878..45399642-chr18:45401844..45403752,2	MCF-7	breast:
3	chr18:45393055..45395642-chr18:45402481..45404020,2	MCF-7	breast:
4	chr18:45402129..45404983-chr18:45456603..45459042,2	MCF-7	breast:
5	chr18:45403717..45406207-chr18:45456494..45458562,2	K562	blood:
6	chr18:45396878..45399642-chr18:45401844..45403752,2	MCF-7	breast:
7	chr18:45391818..45394321-chr18:45399787..45402085,2	MCF-7	breast:
8	chr18:45406363..45407026-chr6:35439781..35440543,2	Hela-S3	cervix:
9	chr18:45401120..45404562-chr18:45404621..45407593,3	K562	blood:
10	chr18:45402056..45405449-chr18:45544846..45548415,3	MCF-7	breast:
11	chr18:45400689..45404562-chr18:45404621..45407103,3	K562	blood:
12	chr16:2732028..2732807-chr18:45399145..45399845,2	Hela-S3	cervix:
13	chr18:45401120..45404562-chr18:45404621..45407593,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB7C-4	chr18:45404666-45404867	ENSG00000269365.1

No data

Variant related genes	Relation type
ENSG00000167977	chromatin interactions
ENSG00000175387	chromatin interactions

Extended variants
information (count: 397 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529679415	chr18:45397188-45397189	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112740471	chr18:45397209-45397210	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540769705	chr18:45397211-45397212	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560278688	chr18:45397251-45397252	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191054164	chr18:45397281-45397282	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543045821	chr18:45397294-45397295	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138376702	chr18:45397304-45397305	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532059400	chr18:45397317-45397318	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551986563	chr18:45397361-45397362	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554645520	chr18:45397419-45397420	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540218626	chr18:45397451-45397452	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75353126	chr18:45397557-45397558	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183557840	chr18:45397567-45397568	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546714580	chr18:45397579-45397580	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10502889	chr18:45397623-45397624	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs535057270	chr18:45397637-45397638	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554960880	chr18:45397672-45397673	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185279002	chr18:45397727-45397728	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552162899	chr18:45397755-45397756	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75376387	chr18:45397767-45397768	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537777708	chr18:45397794-45397795	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189994595	chr18:45397844-45397845	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577810205	chr18:45397849-45397850	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149230590	chr18:45397905-45397906	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554190710	chr18:45397911-45397912	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569078353	chr18:45397952-45397953	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77469215	chr18:45397971-45397972	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531494504	chr18:45397974-45397975	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35560930	chr18:45398048-45398049	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560308934	chr18:45398115-45398116	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562902089	chr18:45398190-45398191	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138968869	chr18:45398205-45398206	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79809924	chr18:45398212-45398213	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78381516	chr18:45398234-45398235	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527841839	chr18:45398240-45398241	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111612229	chr18:45398259-45398260	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs58313729	chr18:45398260-45398261	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200444217	chr18:45398261-45398262	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548741257	chr18:45398267-45398268	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547697093	chr18:45398290-45398291	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560161557	chr18:45398308-45398309	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528992225	chr18:45398325-45398326	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17741495	chr18:45398326-45398327	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs17741519	chr18:45398396-45398397	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs78600093	chr18:45398405-45398406	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551612791	chr18:45398414-45398415	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571452499	chr18:45398417-45398418	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533959313	chr18:45398469-45398470	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183193507	chr18:45398483-45398484	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574166574	chr18:45398492-45398493	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Prostate cancer	22341455	CNVD

Chromatin state (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45345400-45400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:45366600-45408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr18:45382200-45420400	Weak transcription	Right Ventricle	heart
4	chr18:45384200-45398800	Weak transcription	Pancreas	Pancrea
5	chr18:45384200-45421200	Weak transcription	Gastric	stomach
6	chr18:45384200-45423000	Weak transcription	Lung	lung
7	chr18:45384400-45397600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr18:45384400-45397800	Weak transcription	Small Intestine	intestine
9	chr18:45384400-45400200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr18:45384400-45401200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr18:45384400-45410200	Weak transcription	Aorta	Aorta
12	chr18:45384400-45419600	Weak transcription	K562	blood
13	chr18:45384400-45423000	Weak transcription	Spleen	Spleen
14	chr18:45384600-45399000	Weak transcription	Right Atrium	heart
15	chr18:45384800-45400200	Weak transcription	Brain Substantia Nigra	brain
16	chr18:45384800-45407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr18:45384800-45418400	Weak transcription	Fetal Brain Male	brain
18	chr18:45385400-45400000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr18:45385600-45400000	Weak transcription	Brain Hippocampus Middle	brain
20	chr18:45385600-45420800	Weak transcription	Brain Germinal Matrix	brain
21	chr18:45386400-45401800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr18:45386600-45397400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:45386800-45397800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr18:45386800-45420400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr18:45386800-45420600	Weak transcription	Esophagus	oesophagus
26	chr18:45387000-45397800	Weak transcription	Fetal Intestine Small	intestine
27	chr18:45387000-45397800	Weak transcription	Ovary	ovary
28	chr18:45387000-45407200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:45387000-45407200	Weak transcription	Fetal Muscle Leg	muscle
30	chr18:45387000-45408200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:45387000-45408400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr18:45387200-45398800	Weak transcription	Left Ventricle	heart
33	chr18:45387400-45397600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr18:45387600-45408200	Weak transcription	Fetal Stomach	stomach
35	chr18:45387800-45398200	Strong transcription	Dnd41	blood
36	chr18:45388400-45398000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr18:45389000-45410200	Weak transcription	Psoas Muscle	Psoas
38	chr18:45390000-45413600	Weak transcription	Fetal Heart	heart
39	chr18:45390400-45397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr18:45390400-45398200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr18:45390400-45399000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr18:45390400-45400400	Weak transcription	Brain Anterior Caudate	brain
43	chr18:45390400-45408200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr18:45390400-45408400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr18:45390400-45410000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr18:45390600-45397600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr18:45390600-45397800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr18:45390600-45410400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr18:45390600-45419600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr18:45390800-45397800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links