Variant report

Variant	esv3584569
Chromosome Location	chr8:2685346-2750826
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:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:2743139..2745505-chr8:2752998..2755650,2	K562	blood:
2	chr8:2733961..2735891-chr8:2736089..2737715,2	K562	blood:
3	chr8:2733961..2735891-chr8:2736089..2737715,2	K562	blood:
4	chr8:2750431..2753920-chr8:2754914..2757254,3	K562	blood:
5	chr8:2735475..2738288-chr8:2740776..2743385,2	K562	blood:
6	chr8:2662992..2664821-chr8:2705336..2706995,2	K562	blood:
7	chr8:2569834..2572343-chr8:2683951..2686234,2	K562	blood:
8	chr8:2735475..2738288-chr8:2740776..2743385,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYOM2-12	chr8:2691861-2692100	NONHSAT124738
2	lnc-MYOM2-12	chr8:2694306-2694604	NONHSAT124738
3	lnc-MYOM2-12	chr8:2692294-2692594	NONHSAT124738

No data

Extended variants
information (count: 3144 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:3144 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17761495	chr8:2685346-2685347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184022133	chr8:2685369-2685370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17834523	chr8:2685370-2685371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs28725207	chr8:2685375-2685376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566300299	chr8:2685387-2685388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34224140	chr8:2685392-2685393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146505946	chr8:2685411-2685412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555135533	chr8:2685415-2685416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112597074	chr8:2685460-2685461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543329247	chr8:2685474-2685475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79374182	chr8:2685486-2685487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557264805	chr8:2685487-2685488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28594150	chr8:2685496-2685497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188622655	chr8:2685514-2685515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530434303	chr8:2685556-2685557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144724798	chr8:2685590-2685591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148244660	chr8:2685656-2685657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542322847	chr8:2685667-2685668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566996249	chr8:2685683-2685684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562010267	chr8:2685702-2685703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530763170	chr8:2685726-2685727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550787169	chr8:2685733-2685734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564422189	chr8:2685766-2685767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552647972	chr8:2685791-2685792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17694784	chr8:2685871-2685872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs150214292	chr8:2685877-2685878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192722279	chr8:2685880-2685881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138741887	chr8:2685895-2685896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2978334	chr8:2685907-2685908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs142963221	chr8:2685935-2685936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537286368	chr8:2685990-2685991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557129825	chr8:2685997-2685998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570663827	chr8:2686015-2686016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2978333	chr8:2686050-2686051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568534619	chr8:2686061-2686062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553352794	chr8:2686070-2686071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537681724	chr8:2686083-2686084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183691852	chr8:2686111-2686112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369092646	chr8:2686161-2686162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541834216	chr8:2686163-2686164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147541963	chr8:2686164-2686165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561587206	chr8:2686165-2686166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548578421	chr8:2686166-2686167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575807474	chr8:2686204-2686205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114049827	chr8:2686255-2686256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187223541	chr8:2686256-2686257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570850470	chr8:2686260-2686261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532950738	chr8:2686270-2686271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540542911	chr8:2686289-2686290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567407136	chr8:2686295-2686296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2675400-2695000	Weak transcription	K562	blood
2	chr8:2684000-2693200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:2688600-2706800	Weak transcription	Fetal Stomach	stomach
4	chr8:2691000-2692600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:2692000-2692200	Enhancers	Fetal Kidney	kidney
6	chr8:2692200-2708200	Weak transcription	Fetal Kidney	kidney
7	chr8:2692600-2693600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:2693200-2694200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:2693200-2702800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:2693600-2702400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:2694200-2697000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:2695000-2698200	Strong transcription	K562	blood
13	chr8:2697000-2698200	Enhancers	Fetal Heart	heart
14	chr8:2697000-2698800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:2698200-2718600	Weak transcription	K562	blood
16	chr8:2698800-2710400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:2703800-2705600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr8:2704000-2704800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr8:2704400-2705200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:2704600-2705200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:2704600-2705600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:2705000-2705400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr8:2710400-2710800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr8:2725400-2726200	Enhancers	Fetal Kidney	kidney
25	chr8:2729200-2730000	Enhancers	Fetal Kidney	kidney
26	chr8:2730000-2732800	Weak transcription	Fetal Kidney	kidney
27	chr8:2732600-2733200	Enhancers	Fetal Muscle Leg	muscle
28	chr8:2732800-2733400	Enhancers	Fetal Kidney	kidney
29	chr8:2732800-2736600	Enhancers	Fetal Brain Male	brain
30	chr8:2733200-2734200	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:2733400-2734400	Weak transcription	Fetal Kidney	kidney
32	chr8:2733400-2734600	Enhancers	Fetal Brain Female	brain
33	chr8:2734200-2735200	Enhancers	Fetal Muscle Leg	muscle
34	chr8:2734400-2735200	Enhancers	Fetal Kidney	kidney
35	chr8:2735200-2735800	Weak transcription	Fetal Kidney	kidney
36	chr8:2735800-2736000	Enhancers	Fetal Kidney	kidney
37	chr8:2736000-2741400	Weak transcription	Fetal Kidney	kidney
38	chr8:2736400-2736800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr8:2736600-2737400	Weak transcription	Fetal Brain Male	brain
40	chr8:2737400-2737600	Enhancers	Fetal Brain Male	brain
41	chr8:2737600-2743000	Weak transcription	Fetal Brain Male	brain
42	chr8:2741400-2742200	Enhancers	Fetal Kidney	kidney
43	chr8:2742800-2743000	Enhancers	K562	blood
44	chr8:2743000-2743200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:2743000-2743200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr8:2743000-2743600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr8:2743000-2743600	Enhancers	Fetal Brain Male	brain
48	chr8:2743000-2744000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr8:2743000-2744000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr8:2743000-2744000	Flanking Active TSS	K562	blood

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