Variant report

Variant	esv2461296
Chromosome Location	chr1:160705616-160707094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr1:160706765-160707151	HEK293	kidney:	n/a	n/a
2	SETDB1	chr1:160706594-160707350	U2OS	brain:	n/a	n/a
3	ZNF384	chr1:160706591-160706756	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160696988..160699341-chr1:160704707..160707105,2	K562	blood:
2	chr1:160700952..160703629-chr1:160706878..160709001,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLAMF7-5	chr1:160705345-160705904	NONHSAT007073

No data

Variant related genes	Relation type
SLAMF7	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147953587	chr1:160705616-160705617	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs549471	chr1:160705619-160705620	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs115128828	chr1:160705622-160705623	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs368451289	chr1:160705641-160705642	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs76590419	chr1:160705648-160705649	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs59634050	chr1:160705649-160705650	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs559022024	chr1:160705662-160705663	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs537764015	chr1:160705677-160705678	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs549295	chr1:160705684-160705685	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs137995966	chr1:160705723-160705724	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs150733398	chr1:160705728-160705729	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs66746849	chr1:160705739-160705740	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs114134469	chr1:160705752-160705753	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs535400187	chr1:160705769-160705770	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs555393990	chr1:160705910-160705911	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs61804374	chr1:160705936-160705937	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs572218778	chr1:160705948-160705949	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs182974109	chr1:160705978-160705979	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs78269167	chr1:160706004-160706005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371087195	chr1:160706028-160706029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530772080	chr1:160706098-160706099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561160143	chr1:160706114-160706115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577731166	chr1:160706154-160706155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543724098	chr1:160706162-160706163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563393077	chr1:160706286-160706287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529139271	chr1:160706291-160706292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75383668	chr1:160706313-160706314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78760457	chr1:160706322-160706323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79341741	chr1:160706323-160706324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549009796	chr1:160706331-160706332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373962430	chr1:160706348-160706349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528596074	chr1:160706349-160706350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551426166	chr1:160706360-160706361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531085988	chr1:160706384-160706385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189163789	chr1:160706385-160706386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571831998	chr1:160706426-160706427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551235696	chr1:160706430-160706431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537201046	chr1:160706431-160706432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527404527	chr1:160706438-160706439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567905422	chr1:160706478-160706479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536942654	chr1:160706480-160706481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193120805	chr1:160706502-160706503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141694105	chr1:160706507-160706508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565665376	chr1:160706519-160706520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534725324	chr1:160706545-160706546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116453508	chr1:160706597-160706598	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs577773532	chr1:160706598-160706599	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs150416124	chr1:160706600-160706601	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs12040815	chr1:160706619-160706620	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs544597271	chr1:160706624-160706625	Weak transcription	TF binding region	1 gene(s)	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160697200-160711600	Weak transcription	Thymus	Thymus
2	chr1:160698400-160708000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:160704400-160705800	Weak transcription	Primary B cells from cord blood	blood
4	chr1:160704400-160709000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:160704400-160711200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:160705800-160706000	ZNF genes & repeats	Primary B cells from cord blood	blood
7	chr1:160707000-160707600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood

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