Variant report

Variant	nsv576812
Chromosome Location	chr18:43946837-43976847
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:43948771..43951739-chr18:43958399..43960608,2	K562	blood:
2	chr18:43853524..43854121-chr18:43955106..43955715,2	MCF-7	breast:
3	chr18:43950787..43953828-chr18:43954198..43957843,3	K562	blood:
4	chr18:43922751..43924644-chr18:43951049..43953922,2	MCF-7	breast:
5	chr18:43957178..43959632-chr18:43963115..43964870,2	K562	blood:
6	chr18:43947375..43949187-chr18:43952711..43954670,2	K562	blood:
7	chr18:43693530..43694324-chr18:43955585..43956477,2	MCF-7	breast:
8	chr18:43956239..43958309-chr18:43961380..43964035,2	MCF-7	breast:
9	chr18:43950787..43953828-chr18:43954198..43957843,3	K562	blood:
10	chr18:43969322..43971831-chr18:43973623..43976426,2	K562	blood:
11	chr18:43947375..43949187-chr18:43952711..43954670,2	K562	blood:
12	chr18:43860875..43861657-chr18:43949065..43949579,2	MCF-7	breast:
13	chr18:43948771..43951739-chr18:43958399..43960608,2	K562	blood:
14	chr18:43969322..43971831-chr18:43973623..43976426,2	K562	blood:
15	chr18:43956229..43960355-chr18:43960519..43962607,3	K562	blood:
16	chr18:43956239..43958309-chr18:43961380..43964035,2	MCF-7	breast:
17	chr18:43956229..43960355-chr18:43960519..43962607,3	K562	blood:
18	chr18:43913578..43915113-chr18:43966541..43968563,2	MCF-7	breast:
19	chr18:43957178..43959632-chr18:43963115..43964870,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000141622	chromatin interactions

Extended variants
information (count: 1424 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1424 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16978548	chr18:43946837-43946838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62095711	chr18:43946861-43946862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543120069	chr18:43946867-43946868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541962340	chr18:43946881-43946882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557126335	chr18:43946890-43946891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575388007	chr18:43946967-43946968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201993683	chr18:43946986-43946987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546087270	chr18:43946988-43946989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545856366	chr18:43946995-43946996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184745413	chr18:43947008-43947009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189139425	chr18:43947028-43947029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541335891	chr18:43947086-43947087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200433746	chr18:43947131-43947132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559914600	chr18:43947147-43947148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182179999	chr18:43947207-43947208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11874989	chr18:43947216-43947217	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs563490704	chr18:43947231-43947232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530901167	chr18:43947244-43947245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185130588	chr18:43947268-43947269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368047928	chr18:43947296-43947297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138905429	chr18:43947328-43947329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534936650	chr18:43947373-43947374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546542713	chr18:43947474-43947475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568329352	chr18:43947516-43947517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535674015	chr18:43947557-43947558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557189581	chr18:43947590-43947591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs59633174	chr18:43947598-43947599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539493450	chr18:43947650-43947651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113515778	chr18:43947662-43947663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557757737	chr18:43947663-43947664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12454111	chr18:43947665-43947666	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs149372368	chr18:43947666-43947667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559826491	chr18:43947721-43947722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574791079	chr18:43947733-43947734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189971324	chr18:43947741-43947742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563498935	chr18:43947804-43947805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75566991	chr18:43947805-43947806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552359240	chr18:43947824-43947825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144752845	chr18:43947832-43947833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528511179	chr18:43947875-43947876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79258079	chr18:43947880-43947881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568309546	chr18:43947891-43947892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148507204	chr18:43947896-43947897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550799314	chr18:43947899-43947900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569045009	chr18:43947900-43947901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539555295	chr18:43947935-43947936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs62095712	chr18:43948018-43948019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs56377789	chr18:43948019-43948020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532407356	chr18:43948023-43948024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs8086767	chr18:43948028-43948029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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
low-grade B-cell lymphoma tumor	18367492	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
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	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
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	22341455	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43924200-43952800	Weak transcription	Esophagus	oesophagus
2	chr18:43926800-43957600	Weak transcription	Thymus	Thymus
3	chr18:43939400-43966800	Weak transcription	Right Ventricle	heart
4	chr18:43939400-43976600	Weak transcription	Hela-S3	cervix
5	chr18:43939800-43948200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr18:43940000-43953400	Weak transcription	Brain Germinal Matrix	brain
7	chr18:43940200-43953200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr18:43941000-43952400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:43941200-43953400	Weak transcription	Fetal Brain Female	brain
10	chr18:43941800-43953400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:43942200-43952400	Weak transcription	Fetal Brain Male	brain
12	chr18:43942600-43952200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr18:43943600-43951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:43943800-43952800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:43944600-43948000	Enhancers	Fetal Muscle Leg	muscle
16	chr18:43944800-43949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr18:43944800-43952200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr18:43946000-43947200	Enhancers	Fetal Muscle Trunk	muscle
19	chr18:43946400-43947000	Enhancers	Adipose Nuclei	Adipose
20	chr18:43946400-43947000	Enhancers	Fetal Lung	lung
21	chr18:43946400-43948000	Enhancers	Fetal Stomach	stomach
22	chr18:43946600-43947200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr18:43946600-43947200	Enhancers	Placenta	Placenta
24	chr18:43947200-43951400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr18:43948000-43951600	Weak transcription	Fetal Muscle Leg	muscle
26	chr18:43948000-43952000	Weak transcription	Fetal Stomach	stomach
27	chr18:43948200-43948800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr18:43948800-43949000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr18:43949000-43949400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr18:43949200-43949400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr18:43949200-43949800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr18:43949200-43949800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr18:43949200-43950000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr18:43949400-43951200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr18:43949400-43972600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr18:43949800-43953600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr18:43949800-43954400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr18:43950000-43953200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr18:43950600-43953200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr18:43951200-43953800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr18:43951400-43952400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr18:43951600-43951800	Enhancers	Fetal Muscle Leg	muscle
43	chr18:43951600-43954400	Weak transcription	Fetal Intestine Small	intestine
44	chr18:43951800-43952000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:43951800-43953600	Genic enhancers	Fetal Muscle Leg	muscle
46	chr18:43952000-43952400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:43952000-43952800	Strong transcription	Fetal Stomach	stomach
48	chr18:43952200-43952400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr18:43952200-43955200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr18:43952400-43952600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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