Variant report

Variant	esv2830191
Chromosome Location	chr8:107088426-107115482
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:106918347..106919345-chr8:107093305..107094021,2	MCF-7	breast:
2	chr8:107092975..107093872-chr8:107282203..107282950,2	K562	blood:
3	chr8:107059219..107060866-chr8:107093801..107095788,2	K562	blood:
4	chr8:106945007..106945989-chr8:107093330..107093872,2	K562	blood:
5	chr8:107092680..107095598-chr8:107097096..107099230,2	MCF-7	breast:
6	chr8:107015900..107017263-chr8:107092920..107093525,5	MCF-7	breast:
7	chr8:107092680..107095598-chr8:107097096..107099230,2	MCF-7	breast:
8	chr8:106952270..106952820-chr8:107091540..107092239,2	MCF-7	breast:
9	chr8:107065574..107067380-chr8:107096296..107097895,2	K562	blood:
10	chr8:106951964..106952911-chr8:107092917..107093874,3	MCF-7	breast:
11	chr8:107085770..107087985-chr8:107092764..107094318,2	MCF-7	breast:
12	chr8:107071595..107074143-chr8:107092425..107094759,2	K562	blood:
13	chr8:107016577..107017130-chr8:107109768..107110481,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164830	chromatin interactions
ENSG00000251003	chromatin interactions
ENSG00000254615	chromatin interactions

Extended variants
information (count: 937 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:937 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185733684	chr8:107089855-107089856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs372591801	chr8:107089856-107089857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs570381104	chr8:107089865-107089866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs144720982	chr8:107089901-107089902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs7820930	chr8:107089912-107089913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs570152776	chr8:107089961-107089962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs200764364	chr8:107089962-107089963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs7007882	chr8:107089964-107089965	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs58240429	chr8:107089999-107090000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs12541635	chr8:107090000-107090001	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
11	rs555139992	chr8:107090019-107090020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs573497711	chr8:107090039-107090040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs540878099	chr8:107090044-107090045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs142160528	chr8:107090078-107090079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs190205814	chr8:107090100-107090101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs146713136	chr8:107090110-107090111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs73297443	chr8:107090118-107090119	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530111041	chr8:107090221-107090222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs182075292	chr8:107090239-107090240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs186610865	chr8:107090285-107090286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs527594211	chr8:107090290-107090291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs140405279	chr8:107090293-107090294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs570481167	chr8:107090314-107090315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs16874107	chr8:107090341-107090342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs1896919	chr8:107090357-107090358	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs568210391	chr8:107090360-107090361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs547324156	chr8:107090418-107090419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535522476	chr8:107090420-107090421	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188843383	chr8:107090434-107090435	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573336539	chr8:107090460-107090461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533859330	chr8:107090476-107090477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1896918	chr8:107090500-107090501	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs559170159	chr8:107090512-107090513	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78559755	chr8:107090572-107090573	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113166180	chr8:107090586-107090587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562538617	chr8:107090613-107090614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10090545	chr8:107090622-107090623	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3066838	chr8:107090629-107090630	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78548275	chr8:107090630-107090631	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542263473	chr8:107090661-107090662	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370661505	chr8:107090662-107090663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140686291	chr8:107090697-107090698	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1896917	chr8:107090729-107090730	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181342461	chr8:107090732-107090733	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564403677	chr8:107090741-107090742	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572392908	chr8:107090775-107090776	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531635785	chr8:107090786-107090787	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542870465	chr8:107090819-107090820	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112872041	chr8:107090827-107090828	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576548467	chr8:107090835-107090836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD

Chromatin state (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107089800-107090600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr8:107089800-107091600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:107090200-107090400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
4	chr8:107090400-107095000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:107090600-107099000	Weak transcription	Esophagus	oesophagus
6	chr8:107091400-107091600	Enhancers	NHLF	lung
7	chr8:107091400-107092800	Enhancers	Aorta	Aorta
8	chr8:107091600-107092200	Weak transcription	NHLF	lung
9	chr8:107091800-107092000	Enhancers	Adipose Nuclei	Adipose
10	chr8:107091800-107092600	Enhancers	Brain Anterior Caudate	brain
11	chr8:107091800-107092800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:107091800-107093400	Enhancers	Brain Hippocampus Middle	brain
13	chr8:107092000-107092800	Weak transcription	Adipose Nuclei	Adipose
14	chr8:107092000-107092800	Enhancers	HUVEC	blood vessel
15	chr8:107092200-107092800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr8:107092200-107092800	Enhancers	NHLF	lung
17	chr8:107092400-107093000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:107092400-107093000	Enhancers	Ovary	ovary
19	chr8:107092400-107093600	Enhancers	Stomach Smooth Muscle	stomach
20	chr8:107092400-107094800	Enhancers	NH-A	brain
21	chr8:107092400-107095400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:107092400-107096200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:107092400-107096200	Enhancers	Osteobl	bone
24	chr8:107092600-107092800	Enhancers	Duodenum Mucosa	Duodenum
25	chr8:107092600-107093000	Enhancers	Brain Cingulate Gyrus	brain
26	chr8:107092600-107093000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr8:107092600-107094200	Weak transcription	Brain Anterior Caudate	brain
28	chr8:107092800-107093000	Flanking Active TSS	HUVEC	blood vessel
29	chr8:107092800-107093200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:107092800-107093400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:107092800-107093400	Weak transcription	Aorta	Aorta
32	chr8:107092800-107094200	Weak transcription	NHLF	lung
33	chr8:107092800-107094400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:107092800-107096400	Enhancers	Adipose Nuclei	Adipose
35	chr8:107093000-107093200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr8:107093000-107093200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:107093000-107093400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:107093000-107093400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:107093000-107093400	Weak transcription	Ovary	ovary
40	chr8:107093000-107093400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:107093000-107093400	Active TSS	HUVEC	blood vessel
42	chr8:107093000-107093400	Enhancers	NHEK	skin
43	chr8:107093000-107095200	Enhancers	Dnd41	blood
44	chr8:107093200-107093400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:107093200-107093400	Enhancers	Stomach Mucosa	stomach
46	chr8:107093200-107093800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:107093200-107094200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr8:107093200-107095400	Enhancers	NHDF-Ad	bronchial
49	chr8:107093200-107095800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr8:107093400-107093600	Enhancers	Aorta	Aorta

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