Variant report

Variant	nsv576427
Chromosome Location	chr18:8161470-8183260
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:8183143..8185001-chr18:8186709..8189707,2	K562	blood:
2	chr18:8163031..8165343-chr18:8170530..8172120,2	K562	blood:
3	chr18:8163213..8164758-chr18:8166282..8168101,2	K562	blood:
4	chr18:8163213..8164758-chr18:8166282..8168101,2	K562	blood:
5	chr18:8163031..8165343-chr18:8170530..8172120,2	K562	blood:
6	chr18:8175161..8177762-chr3:171759970..171761579,2	MCF-7	breast:
7	chr18:8165740..8168482-chr18:8183232..8185016,2	K562	blood:
8	chr18:8165740..8168482-chr18:8183232..8185016,2	K562	blood:

No data

Extended variants
information (count: 874 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:874 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12961323	chr18:8161470-8161471	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150770093	chr18:8161471-8161472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139220579	chr18:8161482-8161483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562008002	chr18:8161485-8161486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531122839	chr18:8161501-8161502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149946242	chr18:8161514-8161515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146547545	chr18:8161568-8161569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556252386	chr18:8161585-8161586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550836969	chr18:8161720-8161721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563093984	chr18:8161730-8161731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112954441	chr18:8161738-8161739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551645325	chr18:8161739-8161740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141189888	chr18:8161754-8161755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528042263	chr18:8161799-8161800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs25417	chr18:8161802-8161803	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs74726836	chr18:8161832-8161833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs634398	chr18:8161838-8161839	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539435902	chr18:8161851-8161852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192462498	chr18:8161922-8161923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569017416	chr18:8161929-8161930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539671990	chr18:8161936-8161937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534132223	chr18:8161967-8161968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74387698	chr18:8161972-8161973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534143975	chr18:8161979-8161980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143710860	chr18:8162047-8162048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573996800	chr18:8162056-8162057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146826481	chr18:8162066-8162067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562877833	chr18:8162087-8162088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73389768	chr18:8162096-8162097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs112720106	chr18:8162100-8162101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112557807	chr18:8162101-8162102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369163898	chr18:8162104-8162105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185064794	chr18:8162120-8162121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560371873	chr18:8162138-8162139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527980317	chr18:8162151-8162152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189965832	chr18:8162158-8162159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs8093750	chr18:8162166-8162167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528915332	chr18:8162184-8162185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181606188	chr18:8162192-8162193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185238558	chr18:8162254-8162255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539608269	chr18:8162281-8162282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189742033	chr18:8162297-8162298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551611890	chr18:8162300-8162301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566727853	chr18:8162316-8162317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534077764	chr18:8162388-8162389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181397774	chr18:8162411-8162412	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567638647	chr18:8162428-8162429	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17476745	chr18:8162450-8162451	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs143786346	chr18:8162461-8162462	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185030661	chr18:8162480-8162481	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Breast cancer	17133270	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	17377590	CNVD
Schizophrenia	20838587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8142600-8162400	Weak transcription	Right Ventricle	heart
2	chr18:8146200-8162600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr18:8152000-8167200	Weak transcription	Gastric	stomach
4	chr18:8154200-8162600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:8154600-8163000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:8154800-8161800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr18:8155200-8162600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:8156600-8161600	Weak transcription	HepG2	liver
9	chr18:8157600-8167000	Weak transcription	Brain Anterior Caudate	brain
10	chr18:8158000-8165400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr18:8159000-8162400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:8159000-8162400	Weak transcription	Adipose Nuclei	Adipose
13	chr18:8159000-8162400	Weak transcription	Left Ventricle	heart
14	chr18:8159000-8162400	Weak transcription	Lung	lung
15	chr18:8159000-8166200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:8159000-8166200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:8159000-8167000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr18:8159000-8167000	Weak transcription	Aorta	Aorta
19	chr18:8159000-8167200	Weak transcription	Fetal Lung	lung
20	chr18:8159000-8169600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr18:8159000-8170200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr18:8159000-8176600	Weak transcription	Pancreas	Pancrea
23	chr18:8159000-8177400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:8159200-8168800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:8160400-8163600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr18:8160600-8161800	Weak transcription	Right Atrium	heart
27	chr18:8160600-8167600	Weak transcription	Psoas Muscle	Psoas
28	chr18:8161000-8167200	Weak transcription	Ovary	ovary
29	chr18:8161200-8163200	Enhancers	A549	lung
30	chr18:8161400-8162000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:8161400-8162000	Enhancers	Osteobl	bone
32	chr18:8161600-8162000	Enhancers	HepG2	liver
33	chr18:8161600-8176600	Weak transcription	Spleen	Spleen
34	chr18:8161800-8162000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr18:8161800-8163200	Enhancers	Right Atrium	heart
36	chr18:8162000-8163200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr18:8162400-8163000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr18:8162400-8163200	Enhancers	Lung	lung
39	chr18:8162400-8163200	Genic enhancers	Right Ventricle	heart
40	chr18:8162400-8163200	Enhancers	HMEC	breast
41	chr18:8162400-8163400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr18:8162400-8163400	Enhancers	Adipose Nuclei	Adipose
43	chr18:8162400-8163600	Enhancers	Left Ventricle	heart
44	chr18:8162600-8163000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr18:8162600-8163200	Enhancers	Stomach Smooth Muscle	stomach
46	chr18:8162600-8163200	Enhancers	NHEK	skin
47	chr18:8162600-8166000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr18:8162800-8163200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr18:8162800-8163800	Enhancers	Colon Smooth Muscle	Colon
50	chr18:8163000-8163200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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