Variant report

Variant	nsv946540
Chromosome Location	chr1:185191105-185200377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:185193295-185193688	HCT-116	colon:	n/a	n/a
2	CBX3	chr1:185193228-185193655	HCT-116	colon:	n/a	n/a
3	CBX3	chr1:185193245-185193580	K562	blood:	n/a	n/a
4	CTCF	chr1:185196494-185196603	GM20000	blood:	n/a	n/a
5	EP300	chr1:185198317-185198333	K562	blood:	n/a	n/a
6	KAP1	chr1:185193021-185193773	K562	blood:	n/a	n/a
7	KAP1	chr1:185194779-185195047	K562	blood:	n/a	n/a
8	POLR2A	chr1:185195602-185195605	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr1:185192523-185192547	H1-hESC	embryonic stem cell:	n/a	n/a
10	RCOR1	chr1:185193382-185193536	K562	blood:	n/a	n/a
11	RCOR1	chr1:185193081-185193726	IMR90	lung:	n/a	n/a
12	SETDB1	chr1:185193285-185193657	U2OS	brain:	n/a	n/a
13	SPI1	chr1:185195858-185196084	GM12891	blood:	n/a	n/a
14	SPI1	chr1:185195883-185196054	GM12891	blood:	n/a	n/a
15	SPI1	chr1:185195881-185196144	GM12878	blood:	n/a	n/a
16	SPI1	chr1:185195883-185196034	GM12878	blood:	n/a	n/a
17	STAT3	chr1:185194482-185194492	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr1:185193245-185193434	MCF10A-Er-Src	breast:	n/a	n/a
19	ZNF143	chr1:185193437-185193498	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185192647..185194697-chr1:185200428..185202815,2	K562	blood:
2	chr1:185185431..185188306-chr1:185188977..185191365,2	K562	blood:

No data

Variant related genes	Relation type
RPL5P5	TF binding region

Extended variants
information (count: 361 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367661175	chr1:185191141-185191142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557408155	chr1:185191186-185191187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371915297	chr1:185191197-185191198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190119106	chr1:185191199-185191200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572687505	chr1:185191246-185191247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556155191	chr1:185191263-185191264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543347313	chr1:185191323-185191324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377176251	chr1:185191334-185191335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561427494	chr1:185191342-185191343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541992302	chr1:185191344-185191345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79411349	chr1:185191353-185191354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573524049	chr1:185191400-185191401	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs181770756	chr1:185191417-185191418	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs142187806	chr1:185191436-185191437	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs146724889	chr1:185191456-185191457	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs140319838	chr1:185191498-185191499	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs561351639	chr1:185191583-185191584	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs144312580	chr1:185191615-185191616	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs74391277	chr1:185191617-185191618	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs377573382	chr1:185191622-185191623	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs185396240	chr1:185191631-185191632	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs146569259	chr1:185191646-185191647	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs533776817	chr1:185191647-185191648	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs547058101	chr1:185191706-185191707	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs369412242	chr1:185191758-185191759	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs117045431	chr1:185191761-185191762	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs555715778	chr1:185191766-185191767	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs190212543	chr1:185191770-185191771	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs571144485	chr1:185191830-185191831	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575718830	chr1:185191837-185191838	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12724982	chr1:185191896-185191897	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59515070	chr1:185191919-185191920	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367988959	chr1:185191920-185191921	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536942388	chr1:185191931-185191932	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555328932	chr1:185191970-185191971	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572685034	chr1:185192045-185192046	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77382172	chr1:185192071-185192072	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540437123	chr1:185192088-185192089	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565494583	chr1:185192099-185192100	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57731138	chr1:185192123-185192124	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs12078675	chr1:185192138-185192139	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543908858	chr1:185192157-185192158	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562132949	chr1:185192166-185192167	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180822276	chr1:185192190-185192191	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370720522	chr1:185192284-185192285	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6673303	chr1:185192294-185192295	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs140952733	chr1:185192296-185192297	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373675175	chr1:185192297-185192298	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536464277	chr1:185192357-185192358	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150189557	chr1:185192373-185192374	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Barrett''s syndrome	19417022	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	19197363	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127400-185192000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
3	chr1:185128400-185193800	Weak transcription	Brain Angular Gyrus	brain
4	chr1:185128400-185201800	Weak transcription	Gastric	stomach
5	chr1:185134600-185193200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:185137200-185191400	Weak transcription	Brain Anterior Caudate	brain
7	chr1:185137400-185191200	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:185137400-185191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:185138000-185204000	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:185139800-185191400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:185140000-185191600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:185145200-185191400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:185148400-185193400	Weak transcription	Fetal Thymus	thymus
14	chr1:185151000-185193200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:185152200-185200800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:185153200-185191600	Weak transcription	Aorta	Aorta
17	chr1:185154400-185191600	Weak transcription	Ovary	ovary
18	chr1:185160000-185192600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:185160600-185191600	Weak transcription	Brain Germinal Matrix	brain
20	chr1:185160800-185192000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:185161800-185191400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:185168000-185201800	Weak transcription	Primary T cells from cord blood	blood
23	chr1:185168200-185191400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:185168400-185192200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:185170400-185192000	Weak transcription	Fetal Intestine Large	intestine
26	chr1:185170800-185191600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:185170800-185191600	Weak transcription	Fetal Intestine Small	intestine
28	chr1:185170800-185191600	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:185170800-185192600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:185170800-185199800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:185170800-185218200	Weak transcription	Pancreas	Pancrea
32	chr1:185171400-185192000	Weak transcription	Fetal Brain Female	brain
33	chr1:185171400-185193200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:185173000-185191200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:185174000-185207200	Weak transcription	NHDF-Ad	bronchial
36	chr1:185175400-185191400	Weak transcription	Fetal Lung	lung
37	chr1:185175600-185192000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:185175600-185217000	Weak transcription	Fetal Stomach	stomach
39	chr1:185177600-185192800	Weak transcription	Primary B cells from cord blood	blood
40	chr1:185177800-185202600	Weak transcription	Fetal Kidney	kidney
41	chr1:185178400-185208600	Weak transcription	Small Intestine	intestine
42	chr1:185178600-185191400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:185178600-185191600	Weak transcription	Left Ventricle	heart
44	chr1:185179800-185191400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:185180400-185191800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:185180600-185191400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:185182400-185192200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:185182800-185191400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:185183000-185191400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:185183800-185199400	Weak transcription	Placenta Amnion	Placenta Amnion

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