Variant report

Variant	esv3428157
Chromosome Location	chr8:87256885-87281336
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87274382..87276397-chr8:87353174..87356496,4	MCF-7	breast:
2	chr8:87272517..87276008-chr8:87285333..87287881,3	MCF-7	breast:
3	chr8:87268857..87273498-chr8:87273591..87278525,6	MCF-7	breast:
4	chr8:87267716..87270046-chr8:87281008..87283289,2	MCF-7	breast:
5	chr8:87212235..87212767-chr8:87269592..87270289,2	MCF-7	breast:
6	chr8:87274626..87278061-chr8:87304076..87307581,3	MCF-7	breast:
7	chr8:87268857..87273498-chr8:87273591..87278525,6	MCF-7	breast:
8	chr8:87232831..87235143-chr8:87256917..87258574,2	MCF-7	breast:
9	chr8:87265105..87267783-chr8:87353436..87357347,3	MCF-7	breast:
10	chr8:87269276..87272026-chr8:87353907..87356009,3	MCF-7	breast:
11	chr8:87265391..87268035-chr8:87353561..87357477,4	MCF-7	breast:
12	chr8:87278061..87279792-chr8:87353033..87354538,2	MCF-7	breast:
13	chr8:87267716..87270046-chr8:87281008..87283289,2	MCF-7	breast:
14	chr8:87268486..87272936-chr8:87352776..87356432,5	MCF-7	breast:
15	chr8:87271961..87274632-chr8:87289481..87292404,2	MCF-7	breast:
16	chr8:87268554..87270621-chr8:87278313..87280560,2	MCF-7	breast:
17	chr8:87268554..87270621-chr8:87278313..87280560,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123124	chromatin interactions
ENSG00000254231	chromatin interactions

Extended variants
information (count: 867 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:867 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144542135	chr8:87256903-87256904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556739289	chr8:87256905-87256906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573672058	chr8:87256906-87256907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542692418	chr8:87256917-87256918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559369385	chr8:87256918-87256919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572813503	chr8:87256946-87256947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541714942	chr8:87256957-87256958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564726804	chr8:87256991-87256992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151182525	chr8:87257001-87257002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542355344	chr8:87257002-87257003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563676044	chr8:87257004-87257005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192992749	chr8:87257025-87257026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373344607	chr8:87257029-87257030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548997459	chr8:87257030-87257031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369939767	chr8:87257048-87257049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140303459	chr8:87257055-87257056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530767117	chr8:87257056-87257057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534625526	chr8:87257159-87257160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184743463	chr8:87257191-87257192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571427470	chr8:87257195-87257196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536890009	chr8:87257239-87257240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557117286	chr8:87257275-87257276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573808605	chr8:87257323-87257324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536337920	chr8:87257342-87257343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553022144	chr8:87257354-87257355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572850581	chr8:87257482-87257483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541751785	chr8:87257515-87257516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564585999	chr8:87257545-87257546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117148065	chr8:87257590-87257591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546095090	chr8:87257697-87257698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150320541	chr8:87257788-87257789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547843611	chr8:87257792-87257793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138005498	chr8:87257797-87257798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186662402	chr8:87257813-87257814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549036368	chr8:87257814-87257815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559324071	chr8:87257852-87257853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528428620	chr8:87257883-87257884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551742046	chr8:87257912-87257913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191128263	chr8:87257990-87257991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530812424	chr8:87257995-87257996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564390961	chr8:87258003-87258004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184764514	chr8:87258042-87258043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567434857	chr8:87258047-87258048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4246121	chr8:87258063-87258064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561688159	chr8:87258076-87258077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553060780	chr8:87258078-87258079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566486432	chr8:87258095-87258096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538300524	chr8:87258122-87258123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4291244	chr8:87258123-87258124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370129167	chr8:87258157-87258158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Autism	20841430	CNVD
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	19805367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87251200-87275600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:87265600-87265800	Enhancers	Pancreas	Pancrea
3	chr8:87265800-87267200	Weak transcription	Pancreas	Pancrea
4	chr8:87266400-87267800	Enhancers	HepG2	liver
5	chr8:87266600-87272000	Enhancers	Liver	Liver
6	chr8:87267000-87269400	Weak transcription	Ovary	ovary
7	chr8:87267200-87268000	Enhancers	Pancreas	Pancrea
8	chr8:87267200-87268000	Enhancers	Small Intestine	intestine
9	chr8:87267600-87268000	Enhancers	Stomach Mucosa	stomach
10	chr8:87267800-87268000	Flanking Active TSS	HepG2	liver
11	chr8:87267800-87268400	Enhancers	Duodenum Mucosa	Duodenum
12	chr8:87267800-87268600	Enhancers	A549	lung
13	chr8:87268000-87268200	Enhancers	HepG2	liver
14	chr8:87268000-87271000	Weak transcription	Small Intestine	intestine
15	chr8:87268000-87276800	Weak transcription	Pancreas	Pancrea
16	chr8:87268200-87268600	Flanking Active TSS	HepG2	liver
17	chr8:87268600-87271000	Enhancers	HepG2	liver
18	chr8:87269000-87270000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr8:87269400-87269600	Enhancers	Esophagus	oesophagus
20	chr8:87269400-87270000	Enhancers	Ovary	ovary
21	chr8:87269400-87271400	Enhancers	Fetal Lung	lung
22	chr8:87269600-87271400	Enhancers	Colon Smooth Muscle	Colon
23	chr8:87269800-87270000	Enhancers	Rectal Smooth Muscle	rectum
24	chr8:87269800-87270000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr8:87270000-87271000	Weak transcription	Ovary	ovary
26	chr8:87270000-87271000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:87270000-87271000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:87270600-87273400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr8:87270800-87271600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr8:87270800-87272000	Enhancers	Fetal Heart	heart
31	chr8:87271000-87271200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr8:87271000-87271400	Enhancers	Rectal Smooth Muscle	rectum
33	chr8:87271000-87271400	Enhancers	Right Ventricle	heart
34	chr8:87271000-87271400	Enhancers	Small Intestine	intestine
35	chr8:87271000-87272600	Enhancers	Ovary	ovary
36	chr8:87271000-87272600	Weak transcription	HepG2	liver
37	chr8:87271200-87271600	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr8:87271200-87271800	Enhancers	Aorta	Aorta
39	chr8:87271400-87272400	Weak transcription	Colon Smooth Muscle	Colon
40	chr8:87271400-87272400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr8:87271600-87273400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr8:87272000-87276400	Weak transcription	Liver	Liver
43	chr8:87272200-87272400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr8:87272400-87272600	Enhancers	Colon Smooth Muscle	Colon
45	chr8:87272400-87272600	Enhancers	Rectal Smooth Muscle	rectum
46	chr8:87272600-87273600	Enhancers	HepG2	liver
47	chr8:87273600-87275000	Weak transcription	HepG2	liver
48	chr8:87273800-87274000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr8:87274000-87274600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:87274400-87275600	Enhancers	HUES48 Cell Line	embryonic stem cell

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