Variant report

Variant	nsv817782
Chromosome Location	chr18:8297072-8300337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:120625..123083-chr18:8295781..8298042,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000007384	chromatin interactions

Extended variants
information (count: 166 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs948346	chr18:8297072-8297073	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12954516	chr18:8297082-8297083	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs578160564	chr18:8297083-8297084	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539365116	chr18:8297085-8297086	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2155756	chr18:8297113-8297114	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs141045013	chr18:8297149-8297150	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540274466	chr18:8297151-8297152	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs563447779	chr18:8297167-8297168	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192057214	chr18:8297179-8297180	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs573684490	chr18:8297180-8297181	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144894030	chr18:8297182-8297183	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567311133	chr18:8297195-8297196	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs77416025	chr18:8297242-8297243	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs532987757	chr18:8297279-8297280	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547260957	chr18:8297280-8297281	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147953246	chr18:8297303-8297304	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527673032	chr18:8297409-8297410	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559627934	chr18:8297424-8297425	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs549360149	chr18:8297457-8297458	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs567611866	chr18:8297473-8297474	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538350100	chr18:8297474-8297475	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550081186	chr18:8297482-8297483	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548008572	chr18:8297493-8297494	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs571851187	chr18:8297518-8297519	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539272866	chr18:8297523-8297524	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554497972	chr18:8297545-8297546	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs72916849	chr18:8297546-8297547	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs533509532	chr18:8297551-8297552	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs72916852	chr18:8297638-8297639	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs573620630	chr18:8297644-8297645	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183602667	chr18:8297698-8297699	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188559575	chr18:8297725-8297726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs193156194	chr18:8297755-8297756	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544849715	chr18:8297766-8297767	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559966090	chr18:8297780-8297781	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs149666566	chr18:8297785-8297786	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549071603	chr18:8297786-8297787	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570248873	chr18:8297790-8297791	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs538985106	chr18:8297865-8297866	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs118177843	chr18:8297867-8297868	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550234230	chr18:8297905-8297906	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571812656	chr18:8297936-8297937	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539235557	chr18:8297946-8297947	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs548014187	chr18:8297947-8297948	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566336212	chr18:8297956-8297957	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs536968708	chr18:8297965-8297966	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs145516377	chr18:8297992-8297993	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs10502368	chr18:8297998-8297999	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148837488	chr18:8298039-8298040	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs143561547	chr18:8298042-8298043	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8270800-8297400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:8284600-8298800	Weak transcription	HepG2	liver
3	chr18:8284600-8300600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr18:8284800-8301000	Weak transcription	Osteobl	bone
5	chr18:8286400-8298400	Weak transcription	Gastric	stomach
6	chr18:8287800-8306800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr18:8288400-8297800	Weak transcription	A549	lung
8	chr18:8289000-8300600	Weak transcription	Spleen	Spleen
9	chr18:8289000-8301600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr18:8289000-8308200	Weak transcription	Psoas Muscle	Psoas
11	chr18:8289200-8299400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr18:8289200-8300400	Weak transcription	Fetal Brain Female	brain
13	chr18:8289200-8300400	Weak transcription	Fetal Heart	heart
14	chr18:8289200-8300800	Weak transcription	Pancreas	Pancrea
15	chr18:8289200-8301600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:8289200-8319400	Weak transcription	Right Ventricle	heart
17	chr18:8289200-8327400	Weak transcription	Fetal Stomach	stomach
18	chr18:8289200-8329400	Weak transcription	Fetal Muscle Leg	muscle
19	chr18:8289400-8298600	Weak transcription	Liver	Liver
20	chr18:8291400-8300400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr18:8292600-8297400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr18:8293200-8299400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr18:8293600-8300000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr18:8294200-8319000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr18:8294200-8341400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:8295000-8298400	Strong transcription	Aorta	Aorta
27	chr18:8295000-8300800	Weak transcription	Brain Hippocampus Middle	brain
28	chr18:8295000-8312400	Weak transcription	Primary T cells from cord blood	blood
29	chr18:8295200-8301000	Weak transcription	HMEC	breast
30	chr18:8296200-8298200	Strong transcription	Ovary	ovary
31	chr18:8296200-8298400	Strong transcription	Fetal Lung	lung
32	chr18:8296200-8298600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr18:8296200-8298600	Weak transcription	Fetal Intestine Small	intestine
34	chr18:8296400-8297200	Strong transcription	Fetal Thymus	thymus
35	chr18:8296400-8297400	Enhancers	Fetal Kidney	kidney
36	chr18:8296400-8297800	Strong transcription	Left Ventricle	heart
37	chr18:8296400-8298200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr18:8296400-8298200	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr18:8296400-8298600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr18:8296400-8298600	Strong transcription	Adipose Nuclei	Adipose
41	chr18:8296400-8298600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr18:8296400-8298600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr18:8296400-8298800	Weak transcription	Fetal Intestine Large	intestine
44	chr18:8296400-8299200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr18:8296600-8297200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr18:8296600-8297600	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr18:8296600-8298600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:8296600-8298600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr18:8296600-8298600	Strong transcription	Thymus	Thymus
50	chr18:8296800-8298200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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