Variant report

Variant	esv3374088
Chromosome Location	chr8:42772844-42802608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:42750689..42754402-chr8:42769878..42774484,6	K562	blood:
2	chr8:42779435..42782090-chr8:42784603..42786118,2	K562	blood:
3	chr8:42779779..42782429-chr8:42786638..42788942,2	K562	blood:
4	chr8:42779435..42782090-chr8:42784603..42786118,2	K562	blood:
5	chr8:42761584..42764577-chr8:42775485..42778471,2	K562	blood:
6	chr8:42769906..42772301-chr8:42774186..42775836,2	K562	blood:
7	chr8:42768008..42770411-chr8:42777063..42779010,3	K562	blood:
8	chr8:42769562..42771371-chr8:42775665..42777706,2	MCF-7	breast:
9	chr8:42779779..42782429-chr8:42786638..42788942,2	K562	blood:
10	chr8:42760280..42764060-chr8:42770544..42773563,4	K562	blood:
11	chr8:42774232..42776828-chr8:42779514..42781079,2	K562	blood:
12	chr8:42761435..42764060-chr8:42771198..42773563,2	K562	blood:
13	chr8:42784463..42786679-chr8:42788078..42790226,2	K562	blood:
14	chr8:42780929..42782599-chr8:42786860..42788942,2	K562	blood:
15	chr8:42800256..42802411-chr8:42911960..42914860,2	K562	blood:
16	chr8:42768008..42769709-chr8:42777234..42779010,2	K562	blood:
17	chr8:42780929..42782599-chr8:42786860..42788942,2	K562	blood:
18	chr8:42774232..42776828-chr8:42779514..42781079,2	K562	blood:
19	chr8:42750859..42753173-chr8:42780418..42782565,2	K562	blood:
20	chr8:42784463..42786679-chr8:42788078..42790226,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000120925	chromatin interactions
ENSG00000266044	chromatin interactions
ENSG00000168172	chromatin interactions
ENSG00000168522	chromatin interactions

Extended variants
information (count: 1136 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1136 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577830889	chr8:42772941-42772942	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs528653510	chr8:42772970-42772971	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs17622577	chr8:42773009-42773010	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs191336389	chr8:42773099-42773100	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs573843197	chr8:42773118-42773119	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs542078166	chr8:42773121-42773122	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs554147368	chr8:42773128-42773129	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs367791032	chr8:42773150-42773151	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs78519800	chr8:42773225-42773226	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs575624030	chr8:42773256-42773257	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs544266846	chr8:42773288-42773289	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs569231289	chr8:42773306-42773307	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs137903227	chr8:42773330-42773331	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs564477414	chr8:42773331-42773332	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs139210284	chr8:42773386-42773387	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs546648022	chr8:42773412-42773413	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs560351531	chr8:42773435-42773436	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs371397242	chr8:42773457-42773458	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs183573274	chr8:42773458-42773459	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs117295914	chr8:42773468-42773469	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs557991412	chr8:42773500-42773501	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs117630082	chr8:42773510-42773511	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs201819936	chr8:42773551-42773552	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs538498457	chr8:42773559-42773560	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs551114383	chr8:42773562-42773563	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs571218558	chr8:42773563-42773564	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs532367377	chr8:42773564-42773565	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs533886015	chr8:42773572-42773573	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs553895007	chr8:42773573-42773574	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs188619018	chr8:42773657-42773658	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs536038035	chr8:42773672-42773673	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs556457802	chr8:42773686-42773687	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs576279100	chr8:42773723-42773724	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs545692325	chr8:42773729-42773730	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs376100359	chr8:42773760-42773761	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs377444051	chr8:42773781-42773782	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs545240197	chr8:42773794-42773795	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs192812671	chr8:42773808-42773809	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs577605686	chr8:42773817-42773818	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs184955761	chr8:42773823-42773824	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs143249221	chr8:42773824-42773825	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs529477684	chr8:42774036-42774037	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs549325044	chr8:42774053-42774054	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs563072343	chr8:42774092-42774093	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs370162120	chr8:42774101-42774102	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs187756192	chr8:42774129-42774130	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs571307632	chr8:42774138-42774139	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs533767955	chr8:42774169-42774170	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs13264185	chr8:42774177-42774178	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs547543344	chr8:42774180-42774181	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
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
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	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
Endometrioid adenocarcinoma	16974079	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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	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
Chronic lymphocytic leukemia	18922857	CNVD
Medulloblastoma	19270706	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21045282	CNVD
Lung cancer	17925434	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:808 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42753600-42785800	Weak transcription	Esophagus	oesophagus
2	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
3	chr8:42754200-42775200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:42754400-42806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:42754600-42781800	Weak transcription	Hela-S3	cervix
6	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:42755000-42787600	Weak transcription	Fetal Brain Male	brain
8	chr8:42755800-42785800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr8:42756200-42775000	Weak transcription	Right Ventricle	heart
10	chr8:42756200-42775200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:42757600-42775000	Weak transcription	Fetal Heart	heart
12	chr8:42758200-42775400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:42759800-42781400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:42760800-42775400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:42762800-42775400	Weak transcription	HMEC	breast
16	chr8:42764800-42781800	Weak transcription	Placenta	Placenta
17	chr8:42764800-42787600	Weak transcription	Thymus	Thymus
18	chr8:42765400-42781800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr8:42766200-42775400	Weak transcription	NHEK	skin
20	chr8:42766400-42775400	Weak transcription	NH-A	brain
21	chr8:42766800-42775600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:42766800-42806800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr8:42767200-42781400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:42767400-42775400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:42767400-42780600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:42767400-42781000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:42768000-42773000	Weak transcription	Liver	Liver
28	chr8:42768200-42780800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr8:42768200-42787600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:42768800-42773400	Enhancers	HepG2	liver
31	chr8:42768800-42773600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:42768800-42781400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:42769000-42773200	Enhancers	Fetal Intestine Large	intestine
34	chr8:42769200-42775000	Weak transcription	Fetal Brain Female	brain
35	chr8:42769200-42782000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr8:42769200-42785600	Weak transcription	Fetal Kidney	kidney
37	chr8:42769400-42778200	Weak transcription	Fetal Lung	lung
38	chr8:42769400-42781400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:42769400-42785800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:42769400-42786000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:42769800-42775000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr8:42769800-42781000	Weak transcription	Primary T cells from cord blood	blood
43	chr8:42769800-42786000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:42769800-42787200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:42770400-42781000	Weak transcription	Primary B cells from cord blood	blood
46	chr8:42770600-42781400	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:42771000-42773000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr8:42771000-42773000	ZNF genes & repeats	Dnd41	blood
49	chr8:42771000-42774200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr8:42771200-42773600	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