Variant report

Variant	esv3358830
Chromosome Location	chr8:42964995-42970893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42955824..42957691-chr8:42962626..42965217,3	K562	blood:
2	chr8:42270885..42272819-chr8:42964814..42966662,2	K562	blood:

Extended variants
information (count: 322 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72647291	chr8:42965054-42965055	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116399949	chr8:42965066-42965067	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564295159	chr8:42965077-42965078	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149751093	chr8:42965080-42965081	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144536362	chr8:42965103-42965104	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185379429	chr8:42965116-42965117	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533332442	chr8:42965117-42965118	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547040681	chr8:42965158-42965159	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79184465	chr8:42965183-42965184	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567123843	chr8:42965200-42965201	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543826361	chr8:42965227-42965228	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563519155	chr8:42965238-42965239	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536166257	chr8:42965277-42965278	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549453085	chr8:42965312-42965313	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569430861	chr8:42965314-42965315	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115920346	chr8:42965326-42965327	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190638512	chr8:42965370-42965371	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201480957	chr8:42965374-42965375	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148464262	chr8:42965446-42965447	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533516432	chr8:42965476-42965477	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142557405	chr8:42965481-42965482	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146440399	chr8:42965521-42965522	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542895644	chr8:42965543-42965544	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556229350	chr8:42965569-42965570	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372404431	chr8:42965583-42965584	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139871416	chr8:42965640-42965641	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117580631	chr8:42965643-42965644	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564545619	chr8:42965651-42965652	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533470652	chr8:42965669-42965670	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540593022	chr8:42965673-42965674	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143130596	chr8:42965734-42965735	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529317315	chr8:42965767-42965768	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146672871	chr8:42965787-42965788	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373618410	chr8:42965798-42965799	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141087688	chr8:42965800-42965801	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200869937	chr8:42965803-42965804	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551703382	chr8:42965821-42965822	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570961628	chr8:42965826-42965827	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182860345	chr8:42965842-42965843	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553489044	chr8:42965881-42965882	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566917262	chr8:42965896-42965897	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535906023	chr8:42965898-42965899	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556392470	chr8:42965914-42965915	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576281448	chr8:42965917-42965918	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573147920	chr8:42965918-42965919	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189254469	chr8:42965920-42965921	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572311501	chr8:42965936-42965937	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56789342	chr8:42965939-42965940	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs374949768	chr8:42965959-42965960	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150280568	chr8:42965977-42965978	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
Lung cancer	18438408	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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42952600-42966400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:42952600-42967200	ZNF genes & repeats	Fetal Brain Female	brain
3	chr8:42955400-42966400	Strong transcription	Liver	Liver
4	chr8:42956600-42973200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:42956800-42987400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:42957000-42967000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr8:42957200-42966600	ZNF genes & repeats	Dnd41	blood
8	chr8:42957400-42965200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:42957400-42965200	Strong transcription	HSMM	muscle
10	chr8:42957400-42966400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:42957600-42966600	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:42957600-42967400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr8:42957800-42967600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr8:42957800-42986800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:42958000-42967600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr8:42958200-42967600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr8:42958400-42967400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr8:42958400-42968600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr8:42958600-42966400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr8:42958600-42967600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr8:42958800-42965800	ZNF genes & repeats	Fetal Kidney	kidney
22	chr8:42958800-42967000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:42959200-42967200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr8:42959800-42967200	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr8:42960600-42965000	Weak transcription	HSMMtube	muscle
26	chr8:42961200-42966200	ZNF genes & repeats	GM12878-XiMat	blood
27	chr8:42961200-42967200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
28	chr8:42961400-42966400	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr8:42961400-42966600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
30	chr8:42961400-42967600	ZNF genes & repeats	Brain Germinal Matrix	brain
31	chr8:42961800-42966400	ZNF genes & repeats	Fetal Lung	lung
32	chr8:42961800-42966600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr8:42961800-42967000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr8:42961800-42967200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:42961800-42967200	ZNF genes & repeats	Fetal Thymus	thymus
36	chr8:42962000-42966400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
37	chr8:42962000-42967000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
38	chr8:42962000-42967200	ZNF genes & repeats	Fetal Muscle Leg	muscle
39	chr8:42962000-42967600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:42962000-42967600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
41	chr8:42962200-42965400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:42962200-42967200	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr8:42962400-42966000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
44	chr8:42962800-42965600	Strong transcription	Hela-S3	cervix
45	chr8:42962800-42965800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
46	chr8:42962800-42966400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
47	chr8:42962800-42966400	ZNF genes & repeats	NHEK	skin
48	chr8:42962800-42966600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:42963000-42965800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
50	chr8:42963000-42966000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood

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