Variant report

Variant	esv1797206
Chromosome Location	chr8:86023237-86060072
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:86018746..86021962-chr8:86025376..86029734,4	K562	blood:
2	chr8:86041424..86043525-chr8:86089868..86091412,2	MCF-7	breast:
3	chr8:86041361..86043204-chr8:86048252..86049988,2	MCF-7	breast:
4	chr8:86046145..86048472-chr8:86132331..86134349,3	K562	blood:
5	chr8:86033474..86035422-chr8:86039477..86041751,2	K562	blood:
6	chr8:86060046..86062582-chr8:86088601..86090458,2	MCF-7	breast:
7	chr8:86033621..86035468-chr8:86039798..86041684,2	K562	blood:
8	chr8:86059254..86060308-chr8:86202052..86203050,5	MCF-7	breast:
9	chr8:86059423..86060332-chr8:86201778..86202999,3	MCF-7	breast:
10	chr8:86033474..86035422-chr8:86039477..86041751,2	K562	blood:
11	chr8:86023655..86027184-chr8:86028294..86031138,3	K562	blood:
12	chr8:86019642..86022223-chr8:86022348..86025205,2	K562	blood:
13	chr8:86023655..86027184-chr8:86028294..86031138,3	K562	blood:
14	chr8:86019360..86021006-chr8:86035654..86037252,2	MCF-7	breast:
15	chr8:86037520..86040372-chr8:86075567..86078097,2	K562	blood:
16	chr8:86018609..86020657-chr8:86041368..86044315,2	K562	blood:
17	chr8:86036652..86040201-chr8:86048143..86051872,3	K562	blood:
18	chr8:86059388..86060135-chr8:86132558..86133520,2	MCF-7	breast:
19	chr8:86058255..86059927-chr8:86097953..86100720,2	MCF-7	breast:
20	chr8:86041361..86043204-chr8:86048252..86049988,2	MCF-7	breast:
21	chr8:86058766..86061369-chr8:86087811..86090336,2	MCF-7	breast:
22	chr8:85538381..85538975-chr8:86059742..86060294,2	MCF-7	breast:
23	chr8:86046340..86050340-chr8:86087322..86091071,3	MCF-7	breast:
24	chr8:86019640..86022185-chr8:86029422..86031547,2	MCF-7	breast:
25	chr8:86024977..86026970-chr8:86032030..86034099,2	MCF-7	breast:
26	chr8:86039639..86041706-chr8:86089299..86090855,2	K562	blood:
27	chr8:86019339..86022486-chr8:86024530..86028915,4	K562	blood:
28	chr8:86036652..86040201-chr8:86048143..86051872,3	K562	blood:
29	chr8:86059490..86060356-chr8:86202019..86202533,2	K562	blood:
30	chr8:86017751..86020340-chr8:86024558..86026494,3	MCF-7	breast:
31	chr8:86024977..86026970-chr8:86032030..86034099,2	MCF-7	breast:
32	chr8:86033621..86035468-chr8:86039798..86041684,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000176731	chromatin interactions
ENSG00000185015	chromatin interactions
ENSG00000133739	chromatin interactions
ENSG00000254208	chromatin interactions
ENSG00000260493	chromatin interactions
ENSG00000133740	chromatin interactions

Extended variants
information (count: 1168 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1168 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17739175	chr8:86023237-86023238	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs118141370	chr8:86023265-86023266	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs375896759	chr8:86023280-86023281	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144243718	chr8:86023335-86023336	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146583918	chr8:86023351-86023352	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533633734	chr8:86023364-86023365	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552025802	chr8:86023442-86023443	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs6984980	chr8:86023554-86023555	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548940632	chr8:86023657-86023658	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs559202193	chr8:86023788-86023789	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs183737959	chr8:86023826-86023827	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs377013206	chr8:86023856-86023857	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376095229	chr8:86023871-86023872	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs547686477	chr8:86023876-86023877	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188059552	chr8:86023922-86023923	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200760653	chr8:86023925-86023926	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs11991718	chr8:86023934-86023935	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550537702	chr8:86023973-86023974	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs570349811	chr8:86023999-86024000	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535880659	chr8:86024032-86024033	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555704444	chr8:86024053-86024054	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181943567	chr8:86024054-86024055	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs7015047	chr8:86024082-86024083	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374094076	chr8:86024107-86024108	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374380482	chr8:86024112-86024113	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs557967822	chr8:86024132-86024133	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs4739696	chr8:86024134-86024135	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs369638053	chr8:86024139-86024140	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543197408	chr8:86024141-86024142	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs567354615	chr8:86024188-86024189	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12549421	chr8:86024241-86024242	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs555703297	chr8:86024252-86024253	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs573569341	chr8:86024263-86024264	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542270240	chr8:86024326-86024327	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559258354	chr8:86024335-86024336	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532788465	chr8:86024361-86024362	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111868946	chr8:86024371-86024372	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551503431	chr8:86024382-86024383	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs186111629	chr8:86024385-86024386	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533603811	chr8:86024407-86024408	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550377008	chr8:86024436-86024437	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571228299	chr8:86024464-86024465	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs370450642	chr8:86024485-86024486	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536111701	chr8:86024490-86024491	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372860908	chr8:86024534-86024535	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs538572132	chr8:86024543-86024544	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569541669	chr8:86024620-86024621	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs537361748	chr8:86024675-86024676	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566111463	chr8:86024725-86024726	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs534699896	chr8:86024726-86024727	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Acute lymphoblastic leukemia	22237106	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
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86020000-86024400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:86020000-86057400	Weak transcription	Small Intestine	intestine
3	chr8:86020200-86024200	Weak transcription	HSMM	muscle
4	chr8:86020200-86024600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:86020200-86024600	Weak transcription	Ovary	ovary
6	chr8:86020200-86025800	Weak transcription	Right Ventricle	heart
7	chr8:86020200-86032600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:86020200-86042200	Weak transcription	Left Ventricle	heart
9	chr8:86020400-86032400	Weak transcription	Fetal Thymus	thymus
10	chr8:86020400-86034400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:86020400-86043800	Weak transcription	NH-A	brain
12	chr8:86020400-86044400	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:86020400-86048400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:86020400-86048400	Weak transcription	Fetal Stomach	stomach
15	chr8:86020400-86049000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:86020400-86054800	Weak transcription	Lung	lung
17	chr8:86020400-86055400	Weak transcription	Fetal Kidney	kidney
18	chr8:86020400-86055400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:86020400-86056400	Weak transcription	Gastric	stomach
20	chr8:86020400-86057400	Weak transcription	Aorta	Aorta
21	chr8:86020400-86062600	Weak transcription	Pancreas	Pancrea
22	chr8:86020600-86024800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:86020600-86026200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr8:86020600-86029400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr8:86020600-86031800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:86020600-86031800	Weak transcription	HMEC	breast
27	chr8:86020600-86032000	Weak transcription	NHEK	skin
28	chr8:86020600-86032400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:86020600-86034400	Weak transcription	Liver	Liver
30	chr8:86020600-86039200	Weak transcription	Adipose Nuclei	Adipose
31	chr8:86020600-86041600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:86020600-86044200	Weak transcription	Primary T cells from cord blood	blood
33	chr8:86020600-86045800	Weak transcription	Thymus	Thymus
34	chr8:86020600-86048800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr8:86020600-86049000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr8:86020600-86049200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:86020600-86052400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:86020600-86054600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:86020600-86058800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:86020800-86023400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:86020800-86023400	Weak transcription	NHLF	lung
42	chr8:86020800-86024800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:86020800-86025000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:86020800-86039000	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:86020800-86050600	Weak transcription	Brain Angular Gyrus	brain
46	chr8:86021000-86023600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:86021000-86024800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:86021000-86028600	Weak transcription	Fetal Heart	heart
49	chr8:86021000-86032000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:86021000-86034400	Weak transcription	Fetal Lung	lung

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