Variant report

Variant	nsv1023838
Chromosome Location	chr8:43438902-43717656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:383)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:43654724-43654750	K562	blood:	n/a	n/a
2	BACH1	chr8:43572418-43572443	K562	blood:	n/a	n/a
3	BACH1	chr8:43717526-43717725	K562	blood:	n/a	n/a
4	BHLHE40	chr8:43717354-43717554	K562	blood:	n/a	n/a
5	BHLHE40	chr8:43572418-43572443	K562	blood:	n/a	n/a
6	BHLHE40	chr8:43654723-43654750	K562	blood:	n/a	n/a
7	BRCA1	chr8:43519669-43520216	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr8:43717353-43717727	GM12878	blood:	n/a	n/a
9	BRCA1	chr8:43717527-43717552	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr8:43572435-43572642	A549	lung:	n/a	n/a
11	CEBPB	chr8:43696535-43696612	IMR90	lung:	n/a	chr8:43696586-43696597
12	CEBPB	chr8:43572344-43572445	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr8:43717526-43717725	K562	blood:	n/a	n/a
14	CEBPB	chr8:43696575-43696615	HepG2	liver:	n/a	chr8:43696586-43696597
15	CHD2	chr8:43717436-43717554	K562	blood:	n/a	n/a
16	CHD2	chr8:43573553-43573580	K562	blood:	n/a	n/a
17	CHD2	chr8:43519669-43520389	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr8:43553988-43554221	MCF-7	breast:	n/a	n/a
19	CTCF	chr8:43554022-43554159	GM12892	blood:	n/a	n/a
20	CTCF	chr8:43556470-43556529	GM10248	blood:	n/a	n/a
21	CTCF	chr8:43554080-43554230	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr8:43554040-43554190	BJ	skin:	n/a	n/a
23	CTCF	chr8:43554007-43554156	MCF-7	breast:	n/a	n/a
24	CTCF	chr8:43554080-43554230	A549	lung:	n/a	n/a
25	CTCF	chr8:43553980-43554130	GM06990	blood:	n/a	n/a
26	CTCF	chr8:43556498-43556526	GM10266	blood:	n/a	n/a
27	CTCF	chr8:43556460-43556610	GM12864	blood:	n/a	n/a
28	CTCF	chr8:43556377-43556573	Fibrobl	skin:	n/a	n/a
29	CTCF	chr8:43575720-43575870	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr8:43556451-43556560	GM13977	blood:	n/a	n/a
31	CTCF	chr8:43554033-43554154	GM19239	blood:	n/a	n/a
32	CTCF	chr8:43554040-43554190	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr8:43553980-43554130	AG04449	skin:	n/a	n/a
34	CTCF	chr8:43556432-43556600	IMR90	lung:	n/a	n/a
35	CTCF	chr8:43556440-43556590	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr8:43556400-43556550	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr8:43717354-43717554	K562	blood:	n/a	n/a
38	CTCF	chr8:43554000-43554150	NHLF	lung:	n/a	n/a
39	CTCF	chr8:43556480-43556630	GM12873	blood:	n/a	n/a
40	CTCF	chr8:43556440-43556590	GM12866	blood:	n/a	n/a
41	CTCF	chr8:43554020-43554170	NHEK	skin:	n/a	n/a
42	CTCF	chr8:43553986-43554157	GM12891	blood:	n/a	n/a
43	CTCF	chr8:43553960-43554110	GM12871	blood:	n/a	n/a
44	CTCF	chr8:43553953-43554209	HepG2	liver:	n/a	n/a
45	CTCF	chr8:43556458-43556562	GM12878	blood:	n/a	n/a
46	CTCF	chr8:43553866-43554255	A549	lung:	n/a	n/a
47	CTCF	chr8:43554011-43554191	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr8:43554051-43554193	GM10248	blood:	n/a	n/a
49	CTCF	chr8:43556423-43556510	MCF-7	breast:	n/a	n/a
50	CTCF	chr8:43550060-43550210	HCFaa	heart:	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-RNF170-9	chr8:43529413-43529734	NONHSAT126368
2	lnc-HGSNAT-12	chr8:43527966-43528218	NONHSAT126367

No data

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

Extended variants
information (count: 15681 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:15681 , 50 per page) page: 1 2 3 4 5 6 7 ... 314

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535384854	chr8:43438918-43438919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs549019048	chr8:43438919-43438920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs144466925	chr8:43438935-43438936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs533688174	chr8:43438944-43438945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs537692629	chr8:43438955-43438956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557506390	chr8:43438965-43438966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs576955968	chr8:43438989-43438990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs77057268	chr8:43439062-43439063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs553402730	chr8:43439063-43439064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs374322507	chr8:43439074-43439075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs573157570	chr8:43439124-43439125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs7461175	chr8:43439181-43439182	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562286220	chr8:43439184-43439185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs546819481	chr8:43439216-43439217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs35276714	chr8:43439289-43439290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs146633866	chr8:43439295-43439296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs192370929	chr8:43439305-43439306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs564686943	chr8:43439308-43439309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs371363929	chr8:43439310-43439311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs539327834	chr8:43439322-43439323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs10109329	chr8:43439328-43439329	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540335799	chr8:43439330-43439331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs545411187	chr8:43439332-43439333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs371619513	chr8:43439333-43439334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs117789865	chr8:43439339-43439340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs149819385	chr8:43439354-43439355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs567029778	chr8:43439367-43439368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs10091150	chr8:43439414-43439415	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs182263843	chr8:43439440-43439441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs186886474	chr8:43439455-43439456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs576124487	chr8:43439458-43439459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs571128838	chr8:43439484-43439485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs117126422	chr8:43439505-43439506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs553199510	chr8:43439551-43439552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs566946710	chr8:43439565-43439566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs535527296	chr8:43439595-43439596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs555716725	chr8:43439654-43439655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs191777839	chr8:43439693-43439694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs544943878	chr8:43439722-43439723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs74807462	chr8:43439773-43439774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs73569681	chr8:43439776-43439777	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs182499867	chr8:43439796-43439797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs145780071	chr8:43439817-43439818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs542290333	chr8:43439818-43439819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs562516972	chr8:43439819-43439820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs531177881	chr8:43439823-43439824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs572565920	chr8:43439848-43439849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs551264550	chr8:43439849-43439850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs571167487	chr8:43439853-43439854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs527523125	chr8:43439886-43439887	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:144 , 50 per page) page: 1 2 3

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	chr8:43439800-43443800	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr8:43441000-43453800	ZNF genes & repeats	Liver	Liver
4	chr8:43442400-43446800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr8:43444000-43445000	Weak transcription	Adipose Nuclei	Adipose
6	chr8:43444800-43453600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr8:43445000-43449800	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr8:43446800-43447200	Active TSS	Right Atrium	heart
9	chr8:43451000-43453600	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr8:43451200-43451800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:43451400-43453400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:43451800-43452800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:43452800-43458400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:43453400-43462000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr8:43455800-43456800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:43458000-43458800	ZNF genes & repeats	Liver	Liver
17	chr8:43458200-43460600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:43458400-43458600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:43462600-43466400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:43462600-43473600	ZNF genes & repeats	Liver	Liver
21	chr8:43463400-43464600	Active TSS	Right Atrium	heart
22	chr8:43469800-43474800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr8:43470200-43472000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr8:43470400-43471400	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr8:43473000-43480000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:43474200-43475600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr8:43475200-43480400	ZNF genes & repeats	Liver	Liver
28	chr8:43476600-43479800	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr8:43477000-43480000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr8:43477400-43478400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr8:43478200-43479600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:43479000-43479400	Active TSS	Right Atrium	heart
33	chr8:43483200-43489200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:43486200-43490000	ZNF genes & repeats	Liver	Liver
35	chr8:43486400-43488000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr8:43495600-43499400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr8:43497400-43501800	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr8:43497400-43502200	ZNF genes & repeats	Liver	Liver
39	chr8:43498200-43501800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:43500600-43501200	Active TSS	Right Atrium	heart
41	chr8:43502200-43504800	Weak transcription	Liver	Liver
42	chr8:43504800-43511800	ZNF genes & repeats	Liver	Liver
43	chr8:43505800-43507600	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr8:43506600-43508400	ZNF genes & repeats	Psoas Muscle	Psoas
45	chr8:43508600-43515000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:43509200-43515200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr8:43509600-43512000	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr8:43514200-43519600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr8:43515800-43521200	ZNF genes & repeats	Liver	Liver
50	chr8:43518200-43528000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links