Variant report

Variant	nsv891286
Chromosome Location	chr8:111187061-111339379
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:111319864..111321455-chr8:111321699..111324266,2	MCF-7	breast:
2	chr8:111213386..111215697-chr8:111216006..111218910,2	MCF-7	breast:
3	chr8:111246550..111249022-chr8:111251445..111253092,2	MCF-7	breast:
4	chr8:111318905..111321198-chr8:111339196..111341691,2	MCF-7	breast:
5	chr8:111295797..111298136-chr8:111298202..111300823,3	MCF-7	breast:
6	chr8:111314340..111317547-chr8:111319236..111321955,3	MCF-7	breast:
7	chr8:111295797..111298136-chr8:111298202..111300823,3	MCF-7	breast:
8	chr8:111327454..111329140-chr8:111333315..111334824,2	MCF-7	breast:
9	chr8:111327454..111329140-chr8:111333315..111334824,2	MCF-7	breast:
10	chr8:111338897..111341781-chr8:111343648..111346155,2	MCF-7	breast:
11	chr8:100177691..100178432-chr8:111254768..111255288,2	MCF-7	breast:
12	chr8:111213386..111215697-chr8:111216006..111218910,2	MCF-7	breast:
13	chr8:111246550..111249022-chr8:111251445..111253092,2	MCF-7	breast:
14	chr8:111327977..111330779-chr8:111340224..111342460,2	MCF-7	breast:
15	chr8:111318905..111321198-chr8:111339196..111341691,2	MCF-7	breast:
16	chr8:111314340..111317547-chr8:111319236..111321955,3	MCF-7	breast:
17	chr8:111147028..111149045-chr8:111188972..111191014,2	K562	blood:
18	chr8:111319864..111321455-chr8:111321699..111324266,2	MCF-7	breast:

No data

Extended variants
information (count: 3068 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3068 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4371977	chr8:111187061-111187062	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs550826020	chr8:111187070-111187071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567634493	chr8:111187074-111187075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117861047	chr8:111187101-111187102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552970125	chr8:111187114-111187115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571961952	chr8:111187130-111187131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186282652	chr8:111187132-111187133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557517045	chr8:111187221-111187222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577805170	chr8:111187226-111187227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545004605	chr8:111187240-111187241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368413898	chr8:111187280-111187281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191583871	chr8:111187287-111187288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573704745	chr8:111187294-111187295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541002513	chr8:111187298-111187299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150008110	chr8:111187337-111187338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147674140	chr8:111187346-111187347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528785859	chr8:111187457-111187458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370937570	chr8:111187478-111187479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79006568	chr8:111187482-111187483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572448068	chr8:111187531-111187532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117779789	chr8:111187591-111187592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541252173	chr8:111187596-111187597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141219335	chr8:111189021-111189022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530258800	chr8:111189039-111189040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540312573	chr8:111189092-111189093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560186808	chr8:111189099-111189100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532473807	chr8:111189100-111189101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552248925	chr8:111189108-111189109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369667955	chr8:111189126-111189127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569275760	chr8:111189135-111189136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189146838	chr8:111189138-111189139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7003339	chr8:111189184-111189185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs137892554	chr8:111189194-111189195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536418809	chr8:111189234-111189235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117500847	chr8:111189247-111189248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192242257	chr8:111189335-111189336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74813871	chr8:111189347-111189348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374477274	chr8:111189386-111189387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558255350	chr8:111189493-111189494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575242762	chr8:111189509-111189510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142325151	chr8:111189516-111189517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556574356	chr8:111189567-111189568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73314404	chr8:111189584-111189585	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576236530	chr8:111189595-111189596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540382425	chr8:111189598-111189599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560324264	chr8:111189710-111189711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58471283	chr8:111189715-111189716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577257837	chr8:111189719-111189720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537236038	chr8:111189722-111189723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576178263	chr8:111189764-111189765	Enhancers	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
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
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111177000-111187400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:111187400-111187600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:111189000-111190000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:111189000-111190000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:111189600-111190200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:111189600-111190600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:111201400-111202200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:111201600-111201800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:111201600-111202200	ZNF genes & repeats	Pancreas	Pancrea
10	chr8:111212400-111213000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:111214600-111215600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
12	chr8:111214800-111215400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr8:111214800-111215600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:111215200-111215400	Enhancers	Fetal Muscle Trunk	muscle
15	chr8:111220800-111221400	Enhancers	HMEC	breast
16	chr8:111220800-111221400	Enhancers	NHEK	skin
17	chr8:111221200-111221400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:111221200-111221400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:111221200-111223400	Enhancers	Fetal Heart	heart
20	chr8:111221400-111221800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:111221400-111222200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:111221400-111222600	Weak transcription	HMEC	breast
23	chr8:111221400-111223000	Weak transcription	NHEK	skin
24	chr8:111221800-111222800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:111222200-111222600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:111222600-111223800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:111222600-111224000	Enhancers	HMEC	breast
28	chr8:111222800-111223000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:111223000-111223600	Enhancers	NHEK	skin
30	chr8:111223800-111225200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:111225200-111225600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:111225600-111256400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:111226000-111226400	Active TSS	Right Atrium	heart
34	chr8:111229800-111231800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:111230000-111231000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:111230600-111231000	Enhancers	HMEC	breast
37	chr8:111237800-111238200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:111240400-111241400	Enhancers	Primary B cells from peripheral blood	blood
39	chr8:111256400-111258200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:111258200-111273000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:111268400-111268600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:111268600-111270000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:111270000-111270400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:111270000-111270600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr8:111272000-111272200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:111299600-111300000	Enhancers	Fetal Intestine Large	intestine
47	chr8:111301200-111301600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:111301200-111301800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr8:111301400-111301800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:111302400-111304800	Enhancers	Fetal Brain Male	brain

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