Variant report

Variant	nsv611153
Chromosome Location	chr8:43431225-43792571
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1522)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1522 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr8:43785555-43785668	K562	blood:	n/a	n/a
2	ATF1	chr8:43786577-43787136	K562	blood:	n/a	n/a
3	BACH1	chr8:43572418-43572443	K562	blood:	n/a	n/a
4	BACH1	chr8:43790059-43790248	K562	blood:	n/a	n/a
5	BACH1	chr8:43779446-43779599	K562	blood:	n/a	n/a
6	BACH1	chr8:43717526-43717725	K562	blood:	n/a	n/a
7	BACH1	chr8:43654724-43654750	K562	blood:	n/a	n/a
8	BATF	chr8:43771245-43771622	GM12878	blood:	n/a	n/a
9	BATF	chr8:43781687-43781911	GM12878	blood:	n/a	n/a
10	BATF	chr8:43770392-43770728	GM12878	blood:	n/a	n/a
11	BATF	chr8:43759902-43760143	GM12878	blood:	n/a	n/a
12	BATF	chr8:43760193-43760718	GM12878	blood:	n/a	n/a
13	BATF	chr8:43776273-43776586	GM12878	blood:	n/a	n/a
14	BATF	chr8:43789506-43789826	GM12878	blood:	n/a	n/a
15	BATF	chr8:43783610-43783797	GM12878	blood:	n/a	n/a
16	BATF	chr8:43782910-43783364	GM12878	blood:	n/a	n/a
17	BATF	chr8:43764727-43764995	GM12878	blood:	n/a	n/a
18	BATF	chr8:43790368-43790722	GM12878	blood:	n/a	n/a
19	BATF	chr8:43790147-43790722	GM12878	blood:	n/a	n/a
20	BATF	chr8:43771808-43772466	GM12878	blood:	n/a	n/a
21	BATF	chr8:43789506-43789769	GM12878	blood:	n/a	n/a
22	BATF	chr8:43760917-43761158	GM12878	blood:	n/a	n/a
23	BATF	chr8:43761208-43761764	GM12878	blood:	n/a	n/a
24	BATF	chr8:43760280-43760716	GM12878	blood:	n/a	n/a
25	BATF	chr8:43785488-43786069	GM12878	blood:	n/a	n/a
26	BATF	chr8:43761295-43761752	GM12878	blood:	n/a	n/a
27	BATF	chr8:43778905-43779151	GM12878	blood:	n/a	n/a
28	BATF	chr8:43781686-43781952	GM12878	blood:	n/a	n/a
29	BATF	chr8:43785460-43785804	GM12878	blood:	n/a	n/a
30	BATF	chr8:43771212-43771629	GM12878	blood:	n/a	n/a
31	BATF	chr8:43783535-43783800	GM12878	blood:	n/a	n/a
32	BATF	chr8:43772038-43772467	GM12878	blood:	n/a	n/a
33	BATF	chr8:43790975-43791219	GM12878	blood:	n/a	n/a
34	BCL11A	chr8:43772033-43772507	GM12878	blood:	n/a	n/a
35	BCL11A	chr8:43789364-43789781	GM12878	blood:	n/a	n/a
36	BCL11A	chr8:43759939-43760150	GM12878	blood:	n/a	n/a
37	BCL11A	chr8:43790385-43790700	GM12878	blood:	n/a	n/a
38	BCL11A	chr8:43761170-43762049	GM12878	blood:	n/a	n/a
39	BCL11A	chr8:43783542-43783935	GM12878	blood:	n/a	n/a
40	BCL11A	chr8:43785837-43785995	GM12878	blood:	n/a	n/a
41	BCL11A	chr8:43778827-43779220	GM12878	blood:	n/a	n/a
42	BCL11A	chr8:43760267-43760707	GM12878	blood:	n/a	n/a
43	BCL11A	chr8:43771282-43771511	GM12878	blood:	n/a	n/a
44	BCL11A	chr8:43761282-43761722	GM12878	blood:	n/a	n/a
45	BCL11A	chr8:43785511-43785821	GM12878	blood:	n/a	n/a
46	BCL11A	chr8:43782626-43783058	GM12878	blood:	n/a	n/a
47	BCL11A	chr8:43760155-43760933	GM12878	blood:	n/a	n/a
48	BCL11A	chr8:43771195-43771641	GM12878	blood:	n/a	n/a
49	BCL11A	chr8:43781665-43782001	GM12878	blood:	n/a	n/a
50	BCL11A	chr8:43783550-43783791	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:63385860..63386443-chr8:43553599..43554374,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HGSNAT-12	chr8:43527966-43528218	NONHSAT126367
2	lnc-RNF170-9	chr8:43529413-43529734	NONHSAT126368

No data

Variant related genes	Relation type
ENSG00000253845	TF binding region
ENSG00000253198	TF binding region

Extended variants
information (count: 21542 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:21542 , 50 per page) page: 1 2 3 4 5 6 7 ... 431

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570571887	chr8:43434004-43434005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs539526881	chr8:43434014-43434015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs182012822	chr8:43434058-43434059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs367849949	chr8:43434102-43434103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs566496186	chr8:43434127-43434128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs535394085	chr8:43434133-43434134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs548290594	chr8:43434136-43434137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs186164368	chr8:43434137-43434138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs550795159	chr8:43434144-43434145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs141879060	chr8:43434146-43434147	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs557647809	chr8:43434147-43434148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs567506318	chr8:43434148-43434149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs189932585	chr8:43434177-43434178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs180733366	chr8:43434184-43434185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs542293622	chr8:43434226-43434227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs528470011	chr8:43434256-43434257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs373853821	chr8:43434289-43434290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs534212233	chr8:43434290-43434291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs531108131	chr8:43434361-43434362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201768526	chr8:43434405-43434406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs62516371	chr8:43434409-43434410	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs570974368	chr8:43434426-43434427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs138683644	chr8:43434427-43434428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs546721913	chr8:43434432-43434433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs566534553	chr8:43434433-43434434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs535487034	chr8:43434444-43434445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs113718387	chr8:43434457-43434458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs555066266	chr8:43434464-43434465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs569162702	chr8:43434478-43434479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs375700961	chr8:43434483-43434484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557995704	chr8:43434484-43434485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs577435376	chr8:43434497-43434498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs571032508	chr8:43434509-43434510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs185249258	chr8:43434517-43434518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs572990989	chr8:43434518-43434519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs541867188	chr8:43434525-43434526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs553330439	chr8:43434527-43434528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs561911548	chr8:43434552-43434553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs189952553	chr8:43434566-43434567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs544601016	chr8:43434598-43434599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs183352676	chr8:43434608-43434609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs533576756	chr8:43434616-43434617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs547209687	chr8:43434677-43434678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs566722660	chr8:43434680-43434681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs528976978	chr8:43434681-43434682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs539038283	chr8:43434728-43434729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs548999834	chr8:43434743-43434744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs77010603	chr8:43434796-43434797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs558739835	chr8:43434824-43434825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs113089376	chr8:43434837-43434838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Seminomas	18059402	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19214233	CNVD

Chromatin state (count:597 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:43434000-43435000	ZNF genes & repeats	Liver	Liver
2	chr8:43434000-43454200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:43436400-43436800	ZNF genes & repeats	Liver	Liver
4	chr8:43439800-43443800	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr8:43441000-43453800	ZNF genes & repeats	Liver	Liver
6	chr8:43442400-43446800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr8:43444000-43445000	Weak transcription	Adipose Nuclei	Adipose
8	chr8:43444800-43453600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr8:43445000-43449800	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr8:43446800-43447200	Active TSS	Right Atrium	heart
11	chr8:43451000-43453600	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr8:43451200-43451800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:43451400-43453400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:43451800-43452800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:43452800-43458400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:43453400-43462000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr8:43455800-43456800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:43458000-43458800	ZNF genes & repeats	Liver	Liver
19	chr8:43458200-43460600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:43458400-43458600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:43462600-43466400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:43462600-43473600	ZNF genes & repeats	Liver	Liver
23	chr8:43463400-43464600	Active TSS	Right Atrium	heart
24	chr8:43469800-43474800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr8:43470200-43472000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr8:43470400-43471400	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr8:43473000-43480000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:43474200-43475600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr8:43475200-43480400	ZNF genes & repeats	Liver	Liver
30	chr8:43476600-43479800	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr8:43477000-43480000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr8:43477400-43478400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr8:43478200-43479600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:43479000-43479400	Active TSS	Right Atrium	heart
35	chr8:43483200-43489200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:43486200-43490000	ZNF genes & repeats	Liver	Liver
37	chr8:43486400-43488000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr8:43495600-43499400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr8:43497400-43501800	ZNF genes & repeats	Adipose Nuclei	Adipose
40	chr8:43497400-43502200	ZNF genes & repeats	Liver	Liver
41	chr8:43498200-43501800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:43500600-43501200	Active TSS	Right Atrium	heart
43	chr8:43502200-43504800	Weak transcription	Liver	Liver
44	chr8:43504800-43511800	ZNF genes & repeats	Liver	Liver
45	chr8:43505800-43507600	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr8:43506600-43508400	ZNF genes & repeats	Psoas Muscle	Psoas
47	chr8:43508600-43515000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:43509200-43515200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr8:43509600-43512000	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr8:43514200-43519600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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