Variant report

Variant	esv3336606
Chromosome Location	chr1:161817428-161821126
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	chr1:161817528..161820186-chr1:161824155..161825796,2	MCF-7	breast:
2	chr1:161820600..161823167-chr1:161894156..161896088,2	K562	blood:

Extended variants
information (count: 142 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138625778	chr1:161817428-161817429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186734575	chr1:161817441-161817442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578197625	chr1:161817496-161817497	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549620131	chr1:161817527-161817528	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558728590	chr1:161817578-161817579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs16853714	chr1:161817591-161817592	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs149264801	chr1:161817594-161817595	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563969056	chr1:161817601-161817602	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560961407	chr1:161817616-161817617	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529625703	chr1:161817662-161817663	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540171775	chr1:161817715-161817716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190225403	chr1:161817722-161817723	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182493774	chr1:161817769-161817770	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186120044	chr1:161817776-161817777	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529554162	chr1:161817793-161817794	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568912498	chr1:161817824-161817825	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549407290	chr1:161817836-161817837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79454809	chr1:161817856-161817857	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61808546	chr1:161817897-161817898	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200837870	chr1:161817911-161817912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139608488	chr1:161817912-161817913	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201980343	chr1:161817914-161817915	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190499440	chr1:161817951-161817952	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534159745	chr1:161817989-161817990	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12407444	chr1:161818028-161818029	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs144459216	chr1:161818060-161818061	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540100519	chr1:161818095-161818096	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116392921	chr1:161818100-161818101	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576533061	chr1:161818151-161818152	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147971531	chr1:161818152-161818153	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544312510	chr1:161818159-161818160	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141789508	chr1:161818178-161818179	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184129172	chr1:161818187-161818188	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539831664	chr1:161818218-161818219	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539572350	chr1:161818231-161818232	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188683080	chr1:161818254-161818255	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs36020205	chr1:161818267-161818268	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192781651	chr1:161818272-161818273	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545662192	chr1:161818282-161818283	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72706058	chr1:161818324-161818325	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs531387560	chr1:161818353-161818354	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548688466	chr1:161818360-161818361	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562040842	chr1:161818389-161818390	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527729539	chr1:161818428-161818429	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569973462	chr1:161818464-161818465	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570816372	chr1:161818469-161818470	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540158835	chr1:161818525-161818526	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535382184	chr1:161818553-161818554	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550173672	chr1:161818640-161818641	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570266602	chr1:161818646-161818647	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	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
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	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
Breast cancer	21611746	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Cancer	17440070	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161773400-161854400	Weak transcription	Small Intestine	intestine
2	chr1:161780400-161824400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:161780600-161823400	Weak transcription	A549	lung
4	chr1:161780600-161836600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:161780800-161823000	Weak transcription	HSMMtube	muscle
6	chr1:161780800-161825800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:161780800-161834000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:161781000-161823000	Weak transcription	Fetal Kidney	kidney
9	chr1:161785400-161822400	Weak transcription	Fetal Intestine Small	intestine
10	chr1:161787600-161821000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:161791400-161823000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:161791600-161823000	Weak transcription	Fetal Lung	lung
13	chr1:161791800-161819800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:161791800-161820800	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:161791800-161822400	Weak transcription	Thymus	Thymus
16	chr1:161791800-161823000	Weak transcription	Fetal Brain Female	brain
17	chr1:161791800-161823600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:161791800-161842000	Weak transcription	Brain Angular Gyrus	brain
19	chr1:161792000-161822400	Weak transcription	Aorta	Aorta
20	chr1:161792000-161823200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:161792200-161821000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:161792200-161838000	Weak transcription	Fetal Brain Male	brain
23	chr1:161792600-161818600	Weak transcription	Ovary	ovary
24	chr1:161795200-161860200	Weak transcription	Lung	lung
25	chr1:161795400-161822400	Weak transcription	Fetal Stomach	stomach
26	chr1:161795600-161823000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:161795800-161827600	Weak transcription	Gastric	stomach
28	chr1:161795800-161859000	Weak transcription	Pancreas	Pancrea
29	chr1:161796000-161820600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:161797800-161818600	Weak transcription	NHLF	lung
31	chr1:161798200-161819800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:161798600-161820000	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:161798800-161818200	Weak transcription	Fetal Heart	heart
34	chr1:161802200-161823200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:161802400-161825000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:161805800-161838200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr1:161805800-161846200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr1:161806200-161825600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:161806400-161822600	Weak transcription	Brain Germinal Matrix	brain
40	chr1:161807000-161822400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:161808400-161819000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:161808400-161822600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:161808400-161823200	Weak transcription	Brain Substantia Nigra	brain
44	chr1:161808400-161863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:161808600-161840200	Weak transcription	Right Ventricle	heart
46	chr1:161808800-161822600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:161808800-161858800	Weak transcription	Spleen	Spleen
48	chr1:161809200-161827000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr1:161809400-161838000	Weak transcription	HMEC	breast
50	chr1:161810000-161818400	Weak transcription	Colon Smooth Muscle	Colon

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