Variant report

Variant	esv3372961
Chromosome Location	chr8:111883825-111909491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:111907063..111908580-chr8:111914627..111917279,2	K562	blood:
2	chr8:111905363..111907255-chr8:112045592..112048412,2	K562	blood:
3	chr7:142211038..142211658-chr8:111907767..111908287,2	MCF-7	breast:
4	chr1:225202258..225204234-chr8:111898982..111900583,2	MCF-7	breast:
5	chr8:111905656..111907856-chr8:111909688..111913737,4	K562	blood:
6	chr8:111906809..111908563-chr8:111915252..111917279,2	K562	blood:

Extended variants
information (count: 487 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:487 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16881313	chr8:111886809-111886810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs57452997	chr8:111886810-111886811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188717442	chr8:111886911-111886912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570627961	chr8:111886916-111886917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539628456	chr8:111886941-111886942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181061882	chr8:111886947-111886948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185887001	chr8:111886973-111886974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201486632	chr8:111887032-111887033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542871162	chr8:111887033-111887034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562662420	chr8:111887040-111887041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75495617	chr8:111887041-111887042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199725509	chr8:111887042-111887043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190382273	chr8:111887069-111887070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200533369	chr8:111887140-111887141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72677151	chr8:111887145-111887146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574746602	chr8:111887165-111887166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533999846	chr8:111887167-111887168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369391805	chr8:111887186-111887187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs56190234	chr8:111887191-111887192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564227891	chr8:111887222-111887223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545963635	chr8:111887244-111887245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529078094	chr8:111887249-111887250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184103326	chr8:111887272-111887273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138366994	chr8:111887285-111887286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533295064	chr8:111887319-111887320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373328114	chr8:111887377-111887378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542168013	chr8:111887464-111887465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546690596	chr8:111887559-111887560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187348414	chr8:111887565-111887566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566490124	chr8:111887568-111887569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373000155	chr8:111887613-111887614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376965523	chr8:111887663-111887664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150206453	chr8:111887676-111887677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564150061	chr8:111887683-111887684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77489169	chr8:111887725-111887726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549993858	chr8:111887781-111887782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192187146	chr8:111887795-111887796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535697141	chr8:111887814-111887815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549627782	chr8:111887893-111887894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138725226	chr8:111887910-111887911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28455658	chr8:111887919-111887920	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs11988217	chr8:111887951-111887952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530283775	chr8:111892816-111892817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140591319	chr8:111892839-111892840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546912921	chr8:111892890-111892891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566098633	chr8:111892899-111892900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531967440	chr8:111892927-111892928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187280340	chr8:111892934-111892935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547493833	chr8:111892946-111892947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191411230	chr8:111892959-111892960	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	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
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
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111886800-111887600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:111886800-111887600	Enhancers	NH-A	brain
3	chr8:111886800-111888000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:111886800-111888000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:111886800-111888000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:111886800-111888000	Enhancers	HSMM	muscle
7	chr8:111886800-111888000	Enhancers	HUVEC	blood vessel
8	chr8:111887000-111887600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:111887000-111888000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:111887200-111887400	Enhancers	A549	lung
11	chr8:111887200-111887600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:111887200-111888000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:111892800-111893000	Enhancers	Fetal Intestine Large	intestine
14	chr8:111893000-111893800	Weak transcription	Fetal Intestine Large	intestine
15	chr8:111893800-111894000	Enhancers	K562	blood
16	chr8:111893800-111894400	Enhancers	Fetal Intestine Large	intestine
17	chr8:111894200-111895400	Weak transcription	K562	blood
18	chr8:111895400-111897400	Enhancers	K562	blood
19	chr8:111901000-111901200	Enhancers	Fetal Muscle Trunk	muscle
20	chr8:111901400-111902400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:111902200-111905800	Enhancers	Fetal Muscle Leg	muscle
22	chr8:111902400-111902800	Enhancers	Fetal Muscle Trunk	muscle
23	chr8:111902600-111902800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:111902600-111902800	ZNF genes & repeats	Brain Angular Gyrus	brain
25	chr8:111902600-111902800	Enhancers	Pancreas	Pancrea
26	chr8:111902800-111903800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:111902800-111905200	Weak transcription	Brain Angular Gyrus	brain
28	chr8:111903800-111904000	Enhancers	Fetal Muscle Trunk	muscle
29	chr8:111904000-111904400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:111904400-111905600	Enhancers	Fetal Muscle Trunk	muscle
31	chr8:111904600-111906600	Enhancers	Adipose Nuclei	Adipose
32	chr8:111904800-111905000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr8:111904800-111905600	Enhancers	HSMMtube	muscle
34	chr8:111905200-111905400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr8:111905200-111905400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr8:111905200-111905600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:111905200-111905600	Enhancers	Brain Angular Gyrus	brain
38	chr8:111905200-111905600	Enhancers	Brain Hippocampus Middle	brain
39	chr8:111905200-111905800	Enhancers	HSMM	muscle
40	chr8:111905200-111906800	Active TSS	Brain Cingulate Gyrus	brain
41	chr8:111905400-111906000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:111905400-111906000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr8:111905400-111906600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:111905400-111907000	Active TSS	Brain Anterior Caudate	brain
45	chr8:111905400-111907000	Active TSS	Brain Substantia Nigra	brain
46	chr8:111905400-111907200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr8:111905600-111905800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:111905600-111905800	Flanking Active TSS	Fetal Muscle Trunk	muscle
49	chr8:111905600-111906000	Enhancers	Fetal Lung	lung
50	chr8:111905600-111906000	Enhancers	NHLF	lung

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