Variant report

Variant	esv3380465
Chromosome Location	chr1:180838779-180842477
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	chr1:180842169..180845646-chr1:180846177..180849577,4	MCF-7	breast:
2	chr1:180840487..180842982-chr1:181055524..181058293,2	K562	blood:

Variant related genes	Relation type
ENSG00000162783	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371279512	chr1:180838845-180838846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375005287	chr1:180838909-180838910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564678531	chr1:180838931-180838932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368355331	chr1:180838947-180838948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372575223	chr1:180838968-180838969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373926813	chr1:180839019-180839020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368102595	chr1:180839058-180839059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201634545	chr1:180839652-180839653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200590745	chr1:180839854-180839855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201984286	chr1:180840005-180840006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199781016	chr1:180840547-180840548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs200004406	chr1:180840566-180840567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200719635	chr1:180840723-180840724	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201692961	chr1:180840741-180840742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200733447	chr1:180840860-180840861	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs193195591	chr1:180840908-180840909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs12756269	chr1:180841510-180841511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374082382	chr1:180841560-180841561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538126448	chr1:180841569-180841570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372204191	chr1:180841627-180841628	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs574412712	chr1:180841684-180841685	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535424089	chr1:180841694-180841695	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs12086949	chr1:180841724-180841725	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs111721458	chr1:180841740-180841741	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572158773	chr1:180841809-180841810	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs10914122	chr1:180841812-180841813	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564692051	chr1:180841813-180841814	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576595170	chr1:180841823-180841824	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs544074421	chr1:180841824-180841825	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs12097443	chr1:180841876-180841877	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs12082309	chr1:180841897-180841898	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541807015	chr1:180841959-180841960	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560194775	chr1:180841979-180841980	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369695533	chr1:180841980-180841981	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs548320390	chr1:180841998-180841999	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs552019807	chr1:180842058-180842059	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs192601211	chr1:180842064-180842065	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531377008	chr1:180842123-180842124	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs3789368	chr1:180842196-180842197	Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs3789367	chr1:180842218-180842219	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183681678	chr1:180842227-180842228	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs553745074	chr1:180842303-180842304	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549794251	chr1:180842323-180842324	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs3789366	chr1:180842344-180842345	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs115119266	chr1:180842391-180842392	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs558000762	chr1:180842415-180842416	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs576505573	chr1:180842465-180842466	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180773400-180849200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:180773800-180853200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:180779800-180850800	Weak transcription	Small Intestine	intestine
4	chr1:180796400-180851000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:180803600-180843200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:180804800-180842800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:180805800-180881000	Weak transcription	Aorta	Aorta
8	chr1:180812200-180867000	Weak transcription	Ovary	ovary
9	chr1:180819200-180851000	Weak transcription	Fetal Brain Male	brain
10	chr1:180821200-180842200	Weak transcription	Primary B cells from cord blood	blood
11	chr1:180822000-180842200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:180822000-180862800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:180822800-180862800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:180823000-180854600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:180823400-180843000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:180823600-180847800	Weak transcription	Primary T cells from cord blood	blood
17	chr1:180823600-180860000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:180823800-180851000	Weak transcription	Fetal Kidney	kidney
19	chr1:180823800-180851400	Weak transcription	Pancreas	Pancrea
20	chr1:180823800-180862600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:180824000-180848000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:180824000-180867600	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:180824000-180880800	Weak transcription	Right Ventricle	heart
24	chr1:180824200-180851000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:180825200-180841800	Weak transcription	K562	blood
26	chr1:180827800-180856600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:180828000-180852400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:180828000-180853200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:180828000-180853200	Weak transcription	NHEK	skin
30	chr1:180828600-180867800	Weak transcription	HSMM	muscle
31	chr1:180828800-180851000	Weak transcription	Brain Germinal Matrix	brain
32	chr1:180830000-180867600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:180831000-180851400	Weak transcription	Fetal Thymus	thymus
34	chr1:180831200-180858600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:180831600-180847800	Weak transcription	Fetal Brain Female	brain
36	chr1:180831600-180851000	Weak transcription	Brain Angular Gyrus	brain
37	chr1:180831600-180852600	Weak transcription	Fetal Lung	lung
38	chr1:180832200-180848600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:180832400-180842600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:180832400-180842600	Weak transcription	A549	lung
41	chr1:180832400-180844400	Weak transcription	HUVEC	blood vessel
42	chr1:180832400-180848000	Weak transcription	Fetal Heart	heart
43	chr1:180832400-180850000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:180832400-180850000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:180832400-180850800	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:180832400-180850800	Weak transcription	NH-A	brain
47	chr1:180832400-180851000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:180832400-180851000	Weak transcription	Brain Anterior Caudate	brain
49	chr1:180832400-180853200	Weak transcription	Fetal Stomach	stomach
50	chr1:180832600-180854400	Weak transcription	Liver	Liver

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