Variant report

Variant	esv3340425
Chromosome Location	chr8:90686312-90722629
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90409684..90410477-chr8:90701050..90701985,2	MCF-7	breast:
2	chr8:90701576..90703155-chr8:90704849..90706858,2	K562	blood:
3	chr8:89930914..89931750-chr8:90701140..90701846,2	MCF-7	breast:
4	chr8:90271425..90272074-chr8:90701116..90702018,2	MCF-7	breast:
5	chr1:45195328..45196974-chr8:90708817..90711214,2	MCF-7	breast:
6	chr17:36869922..36870448-chr8:90717364..90718185,2	MCF-7	breast:
7	chr8:90700247..90703773-chr8:90768935..90771399,3	MCF-7	breast:
8	chr8:90707734..90710584-chr8:90712902..90714410,2	K562	blood:
9	chr8:90658300..90660624-chr8:90699231..90701382,2	MCF-7	breast:
10	chr8:90718183..90720246-chr8:90997582..90999794,2	MCF-7	breast:
11	chr8:90701508..90704091-chr8:90704725..90706436,2	MCF-7	breast:
12	chr8:90265298..90266142-chr8:90701378..90702003,2	MCF-7	breast:
13	chr8:90714137..90717056-chr8:90737564..90740115,2	K562	blood:
14	chr8:90701508..90704091-chr8:90704725..90706436,2	MCF-7	breast:
15	chr8:90707735..90710054-chr8:90995310..90996868,2	MCF-7	breast:
16	chr8:90707734..90710584-chr8:90712902..90714410,2	K562	blood:
17	chr8:87715292..87715843-chr8:90701514..90702072,2	K562	blood:
18	chr8:90265140..90266864-chr8:90701198..90702017,6	MCF-7	breast:
19	chr8:90701576..90703155-chr8:90704849..90706858,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251136	chromatin interactions
ENSG00000104312	chromatin interactions
ENSG00000104320	chromatin interactions
ENSG00000200169	chromatin interactions

Extended variants
information (count: 1541 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1541 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576145743	chr8:90686329-90686330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551279706	chr8:90686339-90686340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111512663	chr8:90686370-90686371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558201355	chr8:90686385-90686386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201190991	chr8:90686392-90686393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115727377	chr8:90686413-90686414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147332567	chr8:90686416-90686417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560021128	chr8:90686424-90686425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530322355	chr8:90686441-90686442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542453357	chr8:90686446-90686447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185520529	chr8:90686475-90686476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531081437	chr8:90686491-90686492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57055644	chr8:90686503-90686504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112751914	chr8:90686508-90686509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188472796	chr8:90686511-90686512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192206078	chr8:90686512-90686513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184047747	chr8:90686536-90686537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200664185	chr8:90686543-90686544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554801887	chr8:90686559-90686560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141002900	chr8:90686581-90686582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201530146	chr8:90686590-90686591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558388476	chr8:90686591-90686592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536815619	chr8:90686611-90686612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558262967	chr8:90686626-90686627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113217224	chr8:90686637-90686638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369637917	chr8:90686650-90686651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115504998	chr8:90686680-90686681	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
28	rs574337262	chr8:90686695-90686696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542165635	chr8:90686710-90686711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113783436	chr8:90686714-90686715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144863426	chr8:90686719-90686720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546405019	chr8:90686730-90686731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76964410	chr8:90686761-90686762	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs528594495	chr8:90686764-90686765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547013638	chr8:90686768-90686769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561939559	chr8:90686771-90686772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529259376	chr8:90686786-90686787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548201840	chr8:90686802-90686803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569598772	chr8:90686833-90686834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148547430	chr8:90686844-90686845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201852723	chr8:90686866-90686867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551949240	chr8:90686886-90686887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570249623	chr8:90686896-90686897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191088671	chr8:90686900-90686901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112076052	chr8:90686904-90686905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112818981	chr8:90686914-90686915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535397641	chr8:90686945-90686946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201867277	chr8:90686946-90686947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557722173	chr8:90686963-90686964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371092462	chr8:90686972-90686973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
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
Autism	22495311	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
Acute lymphoblastic leukemia	18458336	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90676000-90690600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:90676000-90690600	Weak transcription	Pancreas	Pancrea
3	chr8:90682000-90690600	Weak transcription	Ovary	ovary
4	chr8:90682800-90687200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:90684800-90690600	Weak transcription	Aorta	Aorta
6	chr8:90685400-90692800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:90689000-90690600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:90689600-90692200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:90690600-90690800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr8:90690600-90690800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:90690600-90691000	Strong transcription	Pancreas	Pancrea
12	chr8:90690600-90691200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:90690600-90691400	ZNF genes & repeats	Ovary	ovary
14	chr8:90690600-90691400	ZNF genes & repeats	Right Ventricle	heart
15	chr8:90690600-90691800	ZNF genes & repeats	Aorta	Aorta
16	chr8:90691000-90691200	ZNF genes & repeats	Pancreas	Pancrea
17	chr8:90691200-90691400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:90691400-90691600	Weak transcription	Pancreas	Pancrea
19	chr8:90691400-90691800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:90692800-90693200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:90693200-90715600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:90703800-90704400	Enhancers	NH-A	brain
23	chr8:90704000-90704200	Enhancers	A549	lung
24	chr8:90704000-90704400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr8:90704400-90709600	Weak transcription	NH-A	brain
26	chr8:90709000-90720200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:90709400-90709600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:90709600-90709800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:90709600-90710200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:90709600-90710200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:90709600-90710200	Enhancers	Adipose Nuclei	Adipose
32	chr8:90709600-90710200	Enhancers	A549	lung
33	chr8:90709600-90710200	Enhancers	Hela-S3	cervix
34	chr8:90709600-90710200	Enhancers	NH-A	brain
35	chr8:90709600-90710200	Enhancers	Osteobl	bone
36	chr8:90709800-90710000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:90709800-90710000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:90709800-90710000	Enhancers	HSMMtube	muscle
39	chr8:90709800-90710200	Enhancers	NHEK	skin
40	chr8:90709800-90710600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:90710000-90710200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:90710000-90710200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:90710000-90716200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:90710000-90730000	Weak transcription	HSMMtube	muscle
45	chr8:90710200-90715800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:90710200-90716400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:90710200-90729600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:90710200-90730400	Weak transcription	A549	lung
49	chr8:90710200-90731200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr8:90710200-90736200	Weak transcription	Adipose Nuclei	Adipose

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