Variant report

Variant	esv2421960
Chromosome Location	chr8:107858519-107862270
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:107858176..107858696-chr8:108791740..108792288,2	MCF-7	breast:
2	chr8:107857830..107858766-chr8:107868427..107868948,2	MCF-7	breast:
3	chr8:107775088..107775609-chr8:107857855..107858702,2	MCF-7	breast:
4	chr8:107857946..107858782-chr8:107868419..107869393,13	MCF-7	breast:
5	chr8:107858296..107858832-chr8:107965934..107966511,2	MCF-7	breast:
6	chr8:107857881..107858812-chr8:108543880..108545134,4	MCF-7	breast:
7	chr8:107858278..107858789-chr8:108024820..108025365,2	MCF-7	breast:
8	chr8:107857692..107858790-chr8:108507689..108508327,3	MCF-7	breast:
9	chr8:107716434..107716966-chr8:107858248..107858913,2	MCF-7	breast:
10	chr8:107776572..107779204-chr8:107860586..107863485,2	K562	blood:
11	chr8:107777209..107777910-chr8:107857636..107858793,3	MCF-7	breast:

No data

Extended variants
information (count: 127 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539395671	chr8:107858563-107858564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557618526	chr8:107858565-107858566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565260522	chr8:107858587-107858588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576189718	chr8:107858681-107858682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78929937	chr8:107858684-107858685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555190747	chr8:107858710-107858711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35290849	chr8:107858712-107858713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575883154	chr8:107858747-107858748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374088676	chr8:107858812-107858813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573643217	chr8:107858814-107858815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540675451	chr8:107858880-107858881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527722114	chr8:107858892-107858893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs768691	chr8:107858895-107858896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs559712943	chr8:107858896-107858897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532951758	chr8:107858985-107858986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561226699	chr8:107859021-107859022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192687149	chr8:107859025-107859026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564748494	chr8:107859059-107859060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531833897	chr8:107859143-107859144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113114117	chr8:107859212-107859213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550316630	chr8:107859353-107859354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562049756	chr8:107859368-107859369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577884336	chr8:107859386-107859387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375537477	chr8:107859387-107859388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74740125	chr8:107859400-107859401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529341565	chr8:107859460-107859461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547482642	chr8:107859597-107859598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530284307	chr8:107859628-107859629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151279791	chr8:107859629-107859630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539429838	chr8:107859645-107859646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551287427	chr8:107859661-107859662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569902857	chr8:107859768-107859769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140427381	chr8:107859823-107859824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555493307	chr8:107859825-107859826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75227530	chr8:107859840-107859841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534752739	chr8:107859863-107859864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373368768	chr8:107859868-107859869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553089332	chr8:107859920-107859921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376689177	chr8:107859937-107859938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184676111	chr8:107859980-107859981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371259347	chr8:107859993-107859994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564787196	chr8:107859994-107859995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569948983	chr8:107860008-107860009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576634676	chr8:107860015-107860016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35503378	chr8:107860024-107860025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77120597	chr8:107860034-107860035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3018927	chr8:107860095-107860096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs374470139	chr8:107860101-107860102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200915023	chr8:107860102-107860103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189092804	chr8:107860125-107860126	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
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
Multiple myeloma	17550852	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107852400-107865800	Weak transcription	NHDF-Ad	bronchial

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