Variant report

Variant	esv3353497
Chromosome Location	chr1:161864505-161897180
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161896648..161898427-chr1:161911622..161914345,2	K562	blood:
2	chr1:161874940..161875728-chr1:161993937..161994520,2	MCF-7	breast:
3	chr1:161874595..161877086-chr1:161880690..161882422,2	K562	blood:
4	chr1:161881420..161885079-chr1:161887506..161889889,3	K562	blood:
5	chr1:161820600..161823167-chr1:161894156..161896088,2	K562	blood:
6	chr1:161852144..161853945-chr1:161868652..161871034,2	K562	blood:
7	chr1:161860505..161862177-chr1:161874968..161876891,2	K562	blood:
8	chr1:161861381..161863846-chr1:161863874..161868427,4	K562	blood:
9	chr1:161874812..161875645-chr1:162006504..162007840,3	MCF-7	breast:
10	chr1:161852144..161853945-chr1:161868652..161871755,3	K562	blood:
11	chr1:161878952..161881662-chr1:161891734..161893405,2	K562	blood:
12	chr1:161834350..161835016-chr1:161874785..161875694,3	MCF-7	breast:
13	chr1:161894619..161897303-chr1:161919117..161921439,2	MCF-7	breast:
14	chr1:161879997..161882988-chr1:161887506..161891115,3	K562	blood:
15	chr1:161893376..161893884-chr2:214842359..214843116,2	MCF-7	breast:
16	chr1:161878952..161881662-chr1:161891734..161893405,2	K562	blood:
17	chr1:161896938..161899330-chr1:161900960..161902519,2	K562	blood:
18	chr1:161890894..161893864-chr1:161898012..161900548,2	MCF-7	breast:
19	chr1:161874943..161875452-chr1:162006466..162007002,2	MCF-7	breast:
20	chr1:161762185..161763002-chr1:161874817..161875741,5	MCF-7	breast:
21	chr1:161874595..161877086-chr1:161880690..161882422,2	K562	blood:
22	chr1:161881420..161885079-chr1:161887506..161889889,3	K562	blood:
23	chr1:161879997..161882988-chr1:161887506..161891115,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229808	chromatin interactions

Extended variants
information (count: 1035 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1035 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs397981706	chr1:161864512-161864513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs397959006	chr1:161864513-161864514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376133955	chr1:161864514-161864515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7552417	chr1:161864515-161864516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533955152	chr1:161864517-161864518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148706710	chr1:161864524-161864525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182212683	chr1:161864576-161864577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6660014	chr1:161864580-161864581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs151338921	chr1:161864584-161864585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140706321	chr1:161864638-161864639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555877318	chr1:161864705-161864706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576233792	chr1:161864747-161864748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543430310	chr1:161864795-161864796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532057348	chr1:161864805-161864806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541981866	chr1:161864833-161864834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554261845	chr1:161864949-161864950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376198317	chr1:161864971-161864972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539873281	chr1:161865007-161865008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560076051	chr1:161865012-161865013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145834366	chr1:161865017-161865018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146595820	chr1:161865154-161865155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549630528	chr1:161865179-161865180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184392040	chr1:161865181-161865182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189328886	chr1:161865201-161865202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114634118	chr1:161865229-161865230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568489497	chr1:161865250-161865251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527771236	chr1:161865304-161865305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79023385	chr1:161865314-161865315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570822452	chr1:161865370-161865371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369634502	chr1:161865379-161865380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113910081	chr1:161865410-161865411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181355605	chr1:161865454-161865455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116172605	chr1:161865580-161865581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139084268	chr1:161865603-161865604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535676760	chr1:161865663-161865664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555904896	chr1:161865708-161865709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34312480	chr1:161865763-161865764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs185630091	chr1:161865766-161865767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76113692	chr1:161865792-161865793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4529690	chr1:161865835-161865836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112865598	chr1:161865847-161865848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112184925	chr1:161865888-161865889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374159913	chr1:161865896-161865897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80095662	chr1:161865899-161865900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542080967	chr1:161865900-161865901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544936002	chr1:161865906-161865907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527830528	chr1:161865916-161865917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150101168	chr1:161865936-161865937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570817329	chr1:161865944-161865945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533173786	chr1:161865962-161865963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161824200-161928400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:161824400-161882000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:161836600-161868000	Weak transcription	Fetal Kidney	kidney
4	chr1:161836600-161888400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:161843200-161864800	Weak transcription	Brain Substantia Nigra	brain
6	chr1:161854600-161871400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:161855200-161867400	Weak transcription	NHEK	skin
8	chr1:161855400-161879000	Weak transcription	Hela-S3	cervix
9	chr1:161859200-161885400	Weak transcription	Psoas Muscle	Psoas
10	chr1:161859400-161867000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:161859400-161873600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:161859400-161882600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:161859400-161882800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:161861200-161868800	Weak transcription	HSMM	muscle
15	chr1:161861200-161881200	Weak transcription	Ovary	ovary
16	chr1:161861400-161864600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:161861400-161865200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:161861400-161873400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:161861400-161874600	Weak transcription	GM12878-XiMat	blood
20	chr1:161861400-161879400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:161861400-161881200	Weak transcription	Aorta	Aorta
22	chr1:161861400-161881800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:161861400-161882000	Weak transcription	Adipose Nuclei	Adipose
24	chr1:161861400-161884000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:161861400-161884000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:161861400-161884400	Weak transcription	Fetal Intestine Large	intestine
27	chr1:161861600-161865000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:161861600-161865200	Weak transcription	Gastric	stomach
29	chr1:161861600-161865400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:161861600-161866600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:161861600-161866800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:161861600-161869000	Weak transcription	Fetal Stomach	stomach
33	chr1:161861600-161875000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:161861600-161876400	Weak transcription	HSMMtube	muscle
35	chr1:161861600-161876800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:161861600-161877200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:161861600-161879000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:161861600-161879000	Weak transcription	Thymus	Thymus
39	chr1:161861600-161880000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:161861600-161881000	Weak transcription	Primary B cells from cord blood	blood
41	chr1:161861600-161882400	Weak transcription	Placenta	Placenta
42	chr1:161861600-161882400	Weak transcription	Dnd41	blood
43	chr1:161861600-161883400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:161861600-161883800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:161861600-161884000	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:161861600-161884000	Weak transcription	Left Ventricle	heart
47	chr1:161861600-161884000	Weak transcription	Pancreas	Pancrea
48	chr1:161861600-161884000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:161861600-161891400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:161861600-161906400	Weak transcription	Stomach Smooth Muscle	stomach

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