Variant report

Variant	esv3435184
Chromosome Location	chr1:161904439-161904944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161903853..161905823-chr1:161919707..161922209,2	K562	blood:
2	chr1:161902338..161905176-chr1:161926848..161928751,2	K562	blood:
3	chr1:161903370..161905220-chr1:161914130..161916639,2	K562	blood:
4	chr1:161903105..161906529-chr1:161907782..161911202,3	K562	blood:
5	chr1:161903105..161905006-chr1:161908815..161911026,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547912337	chr1:161904449-161904450	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191986399	chr1:161904462-161904463	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17450862	chr1:161904481-161904482	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs151124072	chr1:161904497-161904498	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2341481	chr1:161904498-161904499	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs539695650	chr1:161904500-161904501	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556811532	chr1:161904562-161904563	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141089908	chr1:161904580-161904581	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535822701	chr1:161904583-161904584	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555502923	chr1:161904586-161904587	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73019376	chr1:161904601-161904602	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541549160	chr1:161904634-161904635	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560343659	chr1:161904708-161904709	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577109790	chr1:161904722-161904723	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546060890	chr1:161904735-161904736	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17450917	chr1:161904743-161904744	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs111445108	chr1:161904748-161904749	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370412140	chr1:161904821-161904822	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548140190	chr1:161904884-161904885	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114836668	chr1:161904916-161904917	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527345073	chr1:161904927-161904928	Weak transcription Flanking Active TSS Enhancers Strong 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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161824200-161928400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:161861600-161906400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:161861600-161936000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:161881600-161912000	Weak transcription	Aorta	Aorta
5	chr1:161883200-161916000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:161883400-161928200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:161884200-161910800	Weak transcription	HepG2	liver
8	chr1:161884600-161927600	Weak transcription	NHEK	skin
9	chr1:161884800-161922600	Weak transcription	Brain Anterior Caudate	brain
10	chr1:161885000-161910600	Weak transcription	Gastric	stomach
11	chr1:161885000-161914400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:161885000-161928000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:161885200-161911800	Weak transcription	Left Ventricle	heart
14	chr1:161885400-161906200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:161885600-161905000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:161885800-161919200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:161886000-161905800	Weak transcription	Adipose Nuclei	Adipose
18	chr1:161886000-161910600	Weak transcription	K562	blood
19	chr1:161886000-161911600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:161886000-161911800	Weak transcription	Placenta	Placenta
21	chr1:161886000-161912000	Weak transcription	Lung	lung
22	chr1:161886000-161912000	Weak transcription	Pancreas	Pancrea
23	chr1:161886200-161912000	Weak transcription	Fetal Intestine Large	intestine
24	chr1:161887000-161918600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:161887000-161928200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:161887200-161906600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:161887200-161914200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:161887200-161915600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:161887200-161929600	Weak transcription	Hela-S3	cervix
30	chr1:161891000-161912800	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:161891000-161915600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:161891400-161906400	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:161891800-161915800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:161892200-161904600	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:161896200-161916400	Weak transcription	Fetal Stomach	stomach
36	chr1:161896400-161905600	Weak transcription	Liver	Liver
37	chr1:161896600-161911800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:161896800-161909200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:161897800-161928400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:161897800-161940000	Weak transcription	Brain Germinal Matrix	brain
41	chr1:161899400-161914400	Weak transcription	Psoas Muscle	Psoas
42	chr1:161899800-161905200	Weak transcription	Primary B cells from cord blood	blood
43	chr1:161899800-161918400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:161900000-161910600	Weak transcription	Ovary	ovary
45	chr1:161900000-161914200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:161900000-161916000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:161900200-161918600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:161900600-161911600	Weak transcription	NH-A	brain
49	chr1:161900600-161914000	Weak transcription	HUVEC	blood vessel
50	chr1:161900600-161915600	Weak transcription	HSMM	muscle

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