Variant report

Variant	nsv978710
Chromosome Location	chr18:43759964-43770866
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr18:43754165..43756653-chr18:43758576..43760814,2	MCF-7	breast:
2	chr18:43753162..43757343-chr18:43764539..43768120,4	K562	blood:
3	chr18:43736114..43739011-chr18:43760662..43762501,2	MCF-7	breast:
4	chr18:43753433..43756017-chr18:43759493..43763624,4	MCF-7	breast:
5	chr18:43762949..43765600-chr18:43790689..43792500,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP5A1-2	chr18:43770666-43770982	l_1575_chr18:43770665-43772482_testes

No data

Variant related genes	Relation type
ENSG00000152242	chromatin interactions

Extended variants
information (count: 465 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71364524	chr18:43760034-43760035	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373339806	chr18:43760261-43760262	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188463196	chr18:43760265-43760266	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535709178	chr18:43760267-43760268	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557010746	chr18:43760284-43760285	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575391470	chr18:43760286-43760287	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539293499	chr18:43760299-43760300	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191708512	chr18:43760354-43760355	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs557938524	chr18:43760396-43760397	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544211878	chr18:43760443-43760444	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374203144	chr18:43760447-43760448	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539960995	chr18:43760448-43760449	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561312923	chr18:43760489-43760490	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs145457804	chr18:43760511-43760512	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542488451	chr18:43760541-43760542	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201699570	chr18:43760678-43760679	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs114105423	chr18:43760680-43760681	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370585678	chr18:43760681-43760682	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs564676692	chr18:43760701-43760702	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528571613	chr18:43760758-43760759	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183864735	chr18:43760769-43760770	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368249784	chr18:43760796-43760797	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs368337286	chr18:43760837-43760838	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535525403	chr18:43760856-43760857	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554528778	chr18:43760875-43760876	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550840263	chr18:43760884-43760885	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs372097259	chr18:43760952-43760953	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs574788778	chr18:43760965-43760966	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147655106	chr18:43761000-43761001	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs149144111	chr18:43761003-43761004	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373191532	chr18:43761032-43761033	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs142199336	chr18:43761052-43761053	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs375536577	chr18:43761055-43761056	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs151230325	chr18:43761071-43761072	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113041193	chr18:43761098-43761099	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573580450	chr18:43761099-43761100	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540426540	chr18:43761115-43761116	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562513590	chr18:43761182-43761183	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs140271803	chr18:43761195-43761196	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200111688	chr18:43761229-43761230	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs142167439	chr18:43761233-43761234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs546501954	chr18:43761239-43761240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564638682	chr18:43761243-43761244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376776429	chr18:43761244-43761245	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540710626	chr18:43761249-43761250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562203476	chr18:43761263-43761264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs76689711	chr18:43761287-43761288	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs550651511	chr18:43761303-43761304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188251373	chr18:43761316-43761317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs560431566	chr18:43761398-43761399	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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	chr18:43755000-43761600	Weak transcription	Pancreas	Pancrea
2	chr18:43755000-43766800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:43755000-43769600	Weak transcription	Gastric	stomach
4	chr18:43755200-43780400	Weak transcription	Aorta	Aorta
5	chr18:43755600-43761600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr18:43755600-43761600	Weak transcription	Ovary	ovary
7	chr18:43755600-43762000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:43755600-43762600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr18:43755600-43762600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr18:43755600-43763000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr18:43755600-43764600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr18:43755600-43766800	Weak transcription	Fetal Intestine Small	intestine
13	chr18:43755600-43768000	Weak transcription	Fetal Intestine Large	intestine
14	chr18:43755600-43776200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:43755600-43795600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:43755800-43761800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr18:43755800-43762400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr18:43755800-43762600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr18:43755800-43765800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr18:43755800-43766000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr18:43755800-43776800	Weak transcription	Fetal Muscle Leg	muscle
22	chr18:43755800-43779600	Weak transcription	Thymus	Thymus
23	chr18:43756000-43763000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr18:43756000-43771000	Weak transcription	NHDF-Ad	bronchial
25	chr18:43756200-43761800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr18:43756200-43762200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr18:43756200-43762200	Weak transcription	Right Atrium	heart
28	chr18:43756200-43762400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:43756200-43762800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr18:43756200-43763800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr18:43756200-43765800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr18:43756400-43761200	Weak transcription	Hela-S3	cervix
33	chr18:43756400-43761400	Weak transcription	Fetal Heart	heart
34	chr18:43756400-43761800	Weak transcription	Colon Smooth Muscle	Colon
35	chr18:43756400-43762000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr18:43756400-43762000	Weak transcription	A549	lung
37	chr18:43756400-43762400	Weak transcription	Adipose Nuclei	Adipose
38	chr18:43756400-43764400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr18:43756400-43765600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr18:43756400-43766600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr18:43756600-43761000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr18:43756600-43761000	Weak transcription	Liver	Liver
43	chr18:43756600-43761800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr18:43756600-43762600	Weak transcription	Primary B cells from cord blood	blood
45	chr18:43756600-43764400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr18:43756600-43765600	Weak transcription	HepG2	liver
47	chr18:43756600-43771600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr18:43756800-43760400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr18:43756800-43761800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr18:43756800-43796000	Weak transcription	Esophagus	oesophagus

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