Variant report

Variant	nsv1030594
Chromosome Location	chr8:43446268-43767214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:646)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:646 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:43572418-43572443	K562	blood:	n/a	n/a
2	BACH1	chr8:43717526-43717725	K562	blood:	n/a	n/a
3	BACH1	chr8:43654724-43654750	K562	blood:	n/a	n/a
4	BATF	chr8:43761208-43761764	GM12878	blood:	n/a	n/a
5	BATF	chr8:43764727-43764995	GM12878	blood:	n/a	n/a
6	BATF	chr8:43760280-43760716	GM12878	blood:	n/a	n/a
7	BATF	chr8:43760917-43761158	GM12878	blood:	n/a	n/a
8	BATF	chr8:43761295-43761752	GM12878	blood:	n/a	n/a
9	BATF	chr8:43759902-43760143	GM12878	blood:	n/a	n/a
10	BATF	chr8:43760193-43760718	GM12878	blood:	n/a	n/a
11	BCL11A	chr8:43760267-43760707	GM12878	blood:	n/a	n/a
12	BCL11A	chr8:43761282-43761722	GM12878	blood:	n/a	n/a
13	BCL11A	chr8:43760155-43760933	GM12878	blood:	n/a	n/a
14	BCL11A	chr8:43761170-43762049	GM12878	blood:	n/a	n/a
15	BCL11A	chr8:43759939-43760150	GM12878	blood:	n/a	n/a
16	BHLHE40	chr8:43760154-43760786	HepG2	liver:	n/a	n/a
17	BHLHE40	chr8:43761169-43761764	HepG2	liver:	n/a	n/a
18	BHLHE40	chr8:43717354-43717554	K562	blood:	n/a	n/a
19	BHLHE40	chr8:43572418-43572443	K562	blood:	n/a	n/a
20	BHLHE40	chr8:43764657-43764895	HepG2	liver:	n/a	n/a
21	BHLHE40	chr8:43654723-43654750	K562	blood:	n/a	n/a
22	BRCA1	chr8:43717353-43717727	GM12878	blood:	n/a	n/a
23	BRCA1	chr8:43717527-43717552	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr8:43519669-43520216	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr8:43717526-43717725	K562	blood:	n/a	n/a
26	CEBPB	chr8:43696535-43696612	IMR90	lung:	n/a	chr8:43696586-43696597
27	CEBPB	chr8:43572344-43572445	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr8:43572435-43572642	A549	lung:	n/a	n/a
29	CEBPB	chr8:43696575-43696615	HepG2	liver:	n/a	chr8:43696586-43696597
30	CEBPD	chr8:43760187-43760957	K562	blood:	n/a	n/a
31	CEBPD	chr8:43761322-43761558	K562	blood:	n/a	n/a
32	CEBPD	chr8:43764249-43764657	K562	blood:	n/a	n/a
33	CEBPD	chr8:43761562-43761791	K562	blood:	n/a	n/a
34	CHD2	chr8:43573553-43573580	K562	blood:	n/a	n/a
35	CHD2	chr8:43519669-43520389	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr8:43717436-43717554	K562	blood:	n/a	n/a
37	CTCF	chr8:43723097-43723134	GM10248	blood:	n/a	n/a
38	CTCF	chr8:43554032-43554183	GM13977	blood:	n/a	n/a
39	CTCF	chr8:43761328-43761487	K562	blood:	n/a	n/a
40	CTCF	chr8:43556360-43556510	MCF-7	breast:	n/a	n/a
41	CTCF	chr8:43554004-43554202	ProgFib	skin:	n/a	n/a
42	CTCF	chr8:43553980-43554130	AG04449	skin:	n/a	n/a
43	CTCF	chr8:43556420-43556570	GM12873	blood:	n/a	n/a
44	CTCF	chr8:43556420-43556570	NB4	blood:	n/a	n/a
45	CTCF	chr8:43556380-43556610	Gliobla	brain:	n/a	n/a
46	CTCF	chr8:43556460-43556571	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr8:43554017-43554151	GM19240	blood:	n/a	n/a
48	CTCF	chr8:43556440-43556590	HCFaa	heart:	n/a	n/a
49	CTCF	chr8:43553980-43554130	GM06990	blood:	n/a	n/a
50	CTCF	chr8:43556377-43556603	LNCaP	prostate:	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: 17633 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:17633 , 50 per page) page: 1 2 3 4 5 6 7 ... 353

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545337259	chr8:43446270-43446271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs565124145	chr8:43446285-43446286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs574760191	chr8:43446297-43446298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs537279289	chr8:43446336-43446337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs557210390	chr8:43446338-43446339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs114640127	chr8:43446347-43446348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs545178042	chr8:43446380-43446381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs527998903	chr8:43446385-43446386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs575778119	chr8:43446432-43446433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs79130015	chr8:43446440-43446441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs75867115	chr8:43446444-43446445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs572390324	chr8:43446453-43446454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs541026073	chr8:43446460-43446461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs187255187	chr8:43446497-43446498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs58416492	chr8:43446529-43446530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs530341465	chr8:43446553-43446554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs550031394	chr8:43446559-43446560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs74391715	chr8:43446561-43446562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs190979387	chr8:43446563-43446564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs79320336	chr8:43446567-43446568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs370029862	chr8:43446568-43446569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs78014018	chr8:43446582-43446583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs76804146	chr8:43446583-43446584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs79223654	chr8:43446586-43446587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs183507981	chr8:43446595-43446596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs565761794	chr8:43446596-43446597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs536440771	chr8:43446608-43446609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs112455515	chr8:43446611-43446612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs556377811	chr8:43446617-43446618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs548190882	chr8:43446620-43446621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs568028855	chr8:43446630-43446631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs537367011	chr8:43446641-43446642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs557248938	chr8:43446647-43446648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs576975433	chr8:43446665-43446666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs141607873	chr8:43446680-43446681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs576110614	chr8:43446701-43446702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs528840681	chr8:43446725-43446726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs369819974	chr8:43446735-43446736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs545124172	chr8:43446758-43446759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs149826356	chr8:43446759-43446760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs572481955	chr8:43446762-43446763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs143446828	chr8:43446763-43446764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs554564203	chr8:43446780-43446781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs374408021	chr8:43446795-43446796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs187515371	chr8:43446796-43446797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs543714868	chr8:43446799-43446800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs563995926	chr8:43446843-43446844	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs532639493	chr8:43446857-43446858	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546354953	chr8:43446873-43446874	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs559215667	chr8:43446876-43446877	ZNF genes & repeats Active TSS	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:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:43434000-43454200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:43441000-43453800	ZNF genes & repeats	Liver	Liver
3	chr8:43442400-43446800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr8:43444800-43453600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr8:43445000-43449800	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr8:43446800-43447200	Active TSS	Right Atrium	heart
7	chr8:43451000-43453600	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr8:43451200-43451800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:43451400-43453400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:43451800-43452800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:43452800-43458400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:43453400-43462000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr8:43455800-43456800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:43458000-43458800	ZNF genes & repeats	Liver	Liver
15	chr8:43458200-43460600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:43458400-43458600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:43462600-43466400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:43462600-43473600	ZNF genes & repeats	Liver	Liver
19	chr8:43463400-43464600	Active TSS	Right Atrium	heart
20	chr8:43469800-43474800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr8:43470200-43472000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr8:43470400-43471400	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr8:43473000-43480000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:43474200-43475600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr8:43475200-43480400	ZNF genes & repeats	Liver	Liver
26	chr8:43476600-43479800	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr8:43477000-43480000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr8:43477400-43478400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr8:43478200-43479600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:43479000-43479400	Active TSS	Right Atrium	heart
31	chr8:43483200-43489200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:43486200-43490000	ZNF genes & repeats	Liver	Liver
33	chr8:43486400-43488000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr8:43495600-43499400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr8:43497400-43501800	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr8:43497400-43502200	ZNF genes & repeats	Liver	Liver
37	chr8:43498200-43501800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:43500600-43501200	Active TSS	Right Atrium	heart
39	chr8:43502200-43504800	Weak transcription	Liver	Liver
40	chr8:43504800-43511800	ZNF genes & repeats	Liver	Liver
41	chr8:43505800-43507600	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr8:43506600-43508400	ZNF genes & repeats	Psoas Muscle	Psoas
43	chr8:43508600-43515000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:43509200-43515200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr8:43509600-43512000	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr8:43514200-43519600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
47	chr8:43515800-43521200	ZNF genes & repeats	Liver	Liver
48	chr8:43518200-43528000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:43522600-43532400	ZNF genes & repeats	Liver	Liver
50	chr8:43523200-43528400	ZNF genes & repeats	Adipose Nuclei	Adipose

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