Variant report

Variant	nsv946463
Chromosome Location	chr1:161479706-161482855
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:161479908-161479999	GM20000	blood:	n/a	n/a
2	GATA1	chr1:161480634-161481318	PBDE	blood:	n/a	chr1:161480768-161480784 chr1:161481120-161481133 chr1:161480772-161480781
3	MAZ	chr1:161481059-161481258	K562	blood:	n/a	n/a
4	POLR2A	chr1:161481406-161481429	K562	blood:	n/a	n/a
5	POLR2A	chr1:161480495-161480590	K562	blood:	n/a	n/a
6	POLR2A	chr1:161481237-161481382	K562	blood:	n/a	n/a
7	POLR2A	chr1:161481680-161481708	K562	blood:	n/a	n/a
8	POLR2A	chr1:161481730-161481741	K562	blood:	n/a	n/a
9	POLR2A	chr1:161481455-161481562	K562	blood:	n/a	n/a
10	POLR2A	chr1:161481824-161481834	K562	blood:	n/a	n/a
11	POLR2A	chr1:161481430-161481449	K562	blood:	n/a	n/a
12	POLR2A	chr1:161481866-161481982	K562	blood:	n/a	n/a
13	POLR2A	chr1:161482170-161482252	Gliobla	brain:	n/a	n/a
14	POLR2A	chr1:161481131-161481144	K562	blood:	n/a	n/a
15	POLR2A	chr1:161480605-161480609	K562	blood:	n/a	n/a
16	POLR2A	chr1:161480946-161481260	K562	blood:	n/a	n/a
17	POLR2A	chr1:161480593-161480601	K562	blood:	n/a	n/a
18	POLR2A	chr1:161480423-161481560	PBDE	blood:	n/a	n/a
19	POLR2A	chr1:161481563-161481650	K562	blood:	n/a	n/a
20	POLR2A	chr1:161480892-161481294	K562	blood:	n/a	n/a
21	POLR2A	chr1:161481469-161481799	K562	blood:	n/a	n/a
22	RCOR1	chr1:161481166-161481250	K562	blood:	n/a	n/a
23	TAL1	chr1:161481171-161481196	K562	blood:	n/a	n/a
24	ZBTB7A	chr1:161480979-161481155	K562	blood:	n/a	chr1:161481109-161481123
25	ZNF263	chr1:161480843-161481212	HEK293-T-REx	kidney:	n/a	chr1:161481051-161481060 chr1:161481016-161481037

No.	Distal block	Cell Line	Cell type
1	chr1:161473850..161477562-chr1:161478106..161481269,5	K562	blood:
2	chr1:161479389..161480900-chr1:161482776..161484874,2	K562	blood:
3	chr1:161463651..161465255-chr1:161480977..161482805,2	K562	blood:

Variant related genes	Relation type
FCGR2A	TF binding region
ENSG00000273112	TF binding region
ENSG00000143226	chromatin interactions
ENSG00000273112	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145979252	chr1:161479708-161479709	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs141159775	chr1:161479710-161479711	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs139202723	chr1:161479732-161479733	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs1801274	chr1:161479745-161479746	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
5	rs372733941	chr1:161479770-161479771	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs377303335	chr1:161479809-161479810	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs368752463	chr1:161479821-161479822	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs79273228	chr1:161479827-161479828	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs141094947	chr1:161479832-161479833	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs138950286	chr1:161479854-161479855	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs571568091	chr1:161479859-161479860	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs150311303	chr1:161479860-161479861	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs55919520	chr1:161479870-161479871	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs567744828	chr1:161479889-161479890	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs535567676	chr1:161479892-161479893	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs201829744	chr1:161479910-161479911	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs375004817	chr1:161479912-161479913	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs550128935	chr1:161479932-161479933	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs555143591	chr1:161479955-161479956	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs572025603	chr1:161479959-161479960	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs557989931	chr1:161479963-161479964	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs540989857	chr1:161479996-161479997	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs558084508	chr1:161480002-161480003	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs191248066	chr1:161480028-161480029	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs147305321	chr1:161480098-161480099	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs563530729	chr1:161480139-161480140	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs111586219	chr1:161480140-161480141	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs543128438	chr1:161480143-161480144	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559554506	chr1:161480195-161480196	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs528495105	chr1:161480212-161480213	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs551409722	chr1:161480218-161480219	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs57089996	chr1:161480220-161480221	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs142132951	chr1:161480239-161480240	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs550841301	chr1:161480246-161480247	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs567873035	chr1:161480269-161480270	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs150717168	chr1:161480281-161480282	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555452796	chr1:161480290-161480291	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs545693729	chr1:161480299-161480300	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs139066293	chr1:161480311-161480312	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs534702501	chr1:161480323-161480324	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs565100551	chr1:161480326-161480327	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs143992686	chr1:161480331-161480332	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs2499437	chr1:161480337-161480338	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs540284627	chr1:161480344-161480345	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs556945748	chr1:161480361-161480362	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs2439014	chr1:161480362-161480363	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs573794610	chr1:161480366-161480367	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs181816547	chr1:161480452-161480453	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs186847015	chr1:161480513-161480514	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs528604274	chr1:161480536-161480537	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Bladder cancer	21909424	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
Follicular lymphoma	18703704	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
Pancreatic cancer	17952125	CNVD
Coronary artery disease	20973705	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161476200-161482400	Weak transcription	Colonic Mucosa	Colon
2	chr1:161476600-161480200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:161476600-161480400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:161476600-161481600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:161476800-161480400	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:161476800-161483400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:161477000-161480200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
8	chr1:161477000-161480200	Weak transcription	Lung	lung
9	chr1:161477000-161480400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:161477000-161480600	Weak transcription	Brain Substantia Nigra	brain
11	chr1:161477000-161481600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:161477000-161482400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:161477000-161482400	Weak transcription	Hela-S3	cervix
14	chr1:161477000-161482400	Weak transcription	Osteobl	bone
15	chr1:161477200-161480200	Weak transcription	Fetal Lung	lung
16	chr1:161477200-161480800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:161477200-161482600	Weak transcription	Adipose Nuclei	Adipose
18	chr1:161477400-161480400	Weak transcription	Placenta	Placenta
19	chr1:161477400-161480600	Weak transcription	Brain Anterior Caudate	brain
20	chr1:161477400-161481000	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:161477400-161481000	Weak transcription	Fetal Stomach	stomach
22	chr1:161477400-161482200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:161477400-161482400	Weak transcription	HepG2	liver
24	chr1:161477400-161482600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:161477400-161482600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:161477400-161488200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:161477600-161479800	Genic enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:161477600-161493600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:161478200-161480400	Weak transcription	Primary B cells from cord blood	blood
30	chr1:161478200-161481400	Genic enhancers	K562	blood
31	chr1:161479000-161481000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:161479400-161482800	Genic enhancers	Monocytes-CD14+_RO01746	blood
33	chr1:161479600-161481800	Genic enhancers	Spleen	Spleen
34	chr1:161479600-161483000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:161479800-161480800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr1:161480200-161480800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
37	chr1:161480200-161481000	Enhancers	Lung	lung
38	chr1:161480200-161481400	Enhancers	Fetal Lung	lung
39	chr1:161480200-161481600	Enhancers	Gastric	stomach
40	chr1:161480200-161482800	Enhancers	Fetal Muscle Trunk	muscle
41	chr1:161480400-161480600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:161480400-161480800	Enhancers	Primary B cells from cord blood	blood
43	chr1:161480400-161481000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:161480400-161481200	Enhancers	Placenta	Placenta
45	chr1:161480400-161481800	Enhancers	Fetal Muscle Leg	muscle
46	chr1:161480400-161481800	Enhancers	Pancreas	Pancrea
47	chr1:161480400-161483800	Enhancers	Brain Cingulate Gyrus	brain
48	chr1:161480600-161481600	Enhancers	Brain Anterior Caudate	brain
49	chr1:161480600-161481800	Enhancers	Brain Substantia Nigra	brain
50	chr1:161480600-161482600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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