Variant report

Variant	nsv909360
Chromosome Location	chr18:8167050-8207445
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:0)
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	chr18:8185001..8187861-chr18:8190708..8193578,3	K562	blood:
2	chr18:8163213..8164758-chr18:8166282..8168101,2	K562	blood:
3	chr18:8197326..8200036-chr18:8203189..8205215,2	K562	blood:
4	chr18:8185001..8187861-chr18:8190708..8193578,3	K562	blood:
5	chr18:8183143..8185001-chr18:8186709..8189707,2	K562	blood:
6	chr18:8197911..8201497-chr18:8204347..8207548,3	MCF-7	breast:
7	chr18:8197326..8200036-chr18:8203189..8205215,2	K562	blood:
8	chr18:8197911..8201497-chr18:8204347..8207548,3	MCF-7	breast:
9	chr18:8165740..8168482-chr18:8183232..8185016,2	K562	blood:
10	chr18:8163031..8165343-chr18:8170530..8172120,2	K562	blood:
11	chr18:8165740..8168482-chr18:8183232..8185016,2	K562	blood:
12	chr18:8175161..8177762-chr3:171759970..171761579,2	MCF-7	breast:
13	chr18:8183143..8185001-chr18:8186709..8189707,2	K562	blood:

No data

Extended variants
information (count: 1563 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1563 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6506551	chr18:8167050-8167051	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75202710	chr18:8167070-8167071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76968759	chr18:8167181-8167182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533451174	chr18:8167182-8167183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545343068	chr18:8167255-8167256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563732172	chr18:8167265-8167266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528110874	chr18:8167322-8167323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546643473	chr18:8167323-8167324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs55713204	chr18:8167355-8167356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182222060	chr18:8167436-8167437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550796962	chr18:8167514-8167515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530574486	chr18:8167528-8167529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117403375	chr18:8167550-8167551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199948042	chr18:8167628-8167629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145992807	chr18:8167644-8167645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558117393	chr18:8167695-8167696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557945990	chr18:8167717-8167718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141626846	chr18:8167718-8167719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11281310	chr18:8167725-8167726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs33946650	chr18:8167726-8167727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs60045713	chr18:8167727-8167728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117662599	chr18:8167751-8167752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533960927	chr18:8167763-8167764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555798192	chr18:8167764-8167765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9961564	chr18:8167825-8167826	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544354594	chr18:8167826-8167827	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs139996296	chr18:8167850-8167851	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs528559135	chr18:8167856-8167857	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs376761257	chr18:8167864-8167865	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs556656902	chr18:8167878-8167879	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs556338204	chr18:8167883-8167884	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs73389777	chr18:8167886-8167887	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545283435	chr18:8167889-8167890	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs75365615	chr18:8167893-8167894	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs528052352	chr18:8167895-8167896	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs539855116	chr18:8167964-8167965	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs560613216	chr18:8168004-8168005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117896058	chr18:8168060-8168061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77172214	chr18:8168094-8168095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550733954	chr18:8168163-8168164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569056699	chr18:8168164-8168165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533190182	chr18:8168199-8168200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551674817	chr18:8168202-8168203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566669316	chr18:8168231-8168232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534157873	chr18:8168283-8168284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs28671298	chr18:8168369-8168370	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567700715	chr18:8168470-8168471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78192463	chr18:8168482-8168483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113271265	chr18:8168499-8168500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550963353	chr18:8168536-8168537	Weak transcription 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:294 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8152000-8167200	Weak transcription	Gastric	stomach
2	chr18:8159000-8167200	Weak transcription	Fetal Lung	lung
3	chr18:8159000-8169600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:8159000-8170200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:8159000-8176600	Weak transcription	Pancreas	Pancrea
6	chr18:8159000-8177400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr18:8159200-8168800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:8160600-8167600	Weak transcription	Psoas Muscle	Psoas
9	chr18:8161000-8167200	Weak transcription	Ovary	ovary
10	chr18:8161600-8176600	Weak transcription	Spleen	Spleen
11	chr18:8163000-8177400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:8163200-8167800	Weak transcription	Right Atrium	heart
13	chr18:8163200-8177800	Weak transcription	Lung	lung
14	chr18:8163400-8174400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr18:8163600-8175600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:8163800-8174400	Weak transcription	Colon Smooth Muscle	Colon
17	chr18:8165800-8174800	Weak transcription	Fetal Heart	heart
18	chr18:8166000-8169800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:8166200-8169600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:8166200-8174800	Weak transcription	Right Ventricle	heart
21	chr18:8166800-8168000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr18:8167000-8167600	Enhancers	Aorta	Aorta
23	chr18:8167000-8168000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:8167000-8168000	Enhancers	Left Ventricle	heart
25	chr18:8167000-8168400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:8167200-8167400	Enhancers	Gastric	stomach
27	chr18:8167200-8167600	Enhancers	Brain Hippocampus Middle	brain
28	chr18:8167200-8168000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:8167200-8168000	Enhancers	Fetal Lung	lung
30	chr18:8167200-8168000	Enhancers	Ovary	ovary
31	chr18:8167400-8168000	Weak transcription	Gastric	stomach
32	chr18:8167600-8167800	Weak transcription	Aorta	Aorta
33	chr18:8167600-8168000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr18:8167600-8168000	Enhancers	Psoas Muscle	Psoas
35	chr18:8167800-8168000	ZNF genes & repeats	Aorta	Aorta
36	chr18:8167800-8168000	Enhancers	Right Atrium	heart
37	chr18:8168000-8168600	Weak transcription	Right Atrium	heart
38	chr18:8168000-8170200	Weak transcription	Aorta	Aorta
39	chr18:8168000-8173600	Weak transcription	Psoas Muscle	Psoas
40	chr18:8168000-8174800	Weak transcription	Left Ventricle	heart
41	chr18:8168000-8177400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr18:8168400-8170200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:8168800-8171800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr18:8169600-8170400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr18:8170000-8170200	Enhancers	Fetal Brain Male	brain
46	chr18:8170000-8170400	Enhancers	Fetal Brain Female	brain
47	chr18:8170000-8170400	Enhancers	Rectal Smooth Muscle	rectum
48	chr18:8170200-8170800	Enhancers	Aorta	Aorta
49	chr18:8170200-8171800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr18:8170200-8175800	Weak transcription	Fetal Brain Male	brain

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