Variant report

Variant	esv3513316
Chromosome Location	chr10:54015096-54019394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:54008362..54009880-chr10:54016820..54018368,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545651252	chr10:54015140-54015141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573486401	chr10:54015240-54015241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539188206	chr10:54015290-54015291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559007885	chr10:54015342-54015343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146994840	chr10:54015353-54015354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544563992	chr10:54015366-54015367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554584761	chr10:54015505-54015506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138126432	chr10:54015536-54015537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559528559	chr10:54015560-54015561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149524749	chr10:54015684-54015685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1194506	chr10:54015776-54015777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528287811	chr10:54015813-54015814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565468758	chr10:54015852-54015853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144169167	chr10:54015890-54015891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564914519	chr10:54015910-54015911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530872854	chr10:54015913-54015914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78984467	chr10:54015963-54015964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115214436	chr10:54015975-54015976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567271604	chr10:54016055-54016056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12263153	chr10:54016062-54016063	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190895568	chr10:54016086-54016087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566544463	chr10:54016092-54016093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7907343	chr10:54016099-54016100	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs112911889	chr10:54016102-54016103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538149006	chr10:54016124-54016125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559141471	chr10:54016200-54016201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148603556	chr10:54016268-54016269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538576731	chr10:54016311-54016312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141167128	chr10:54016346-54016347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146205696	chr10:54016356-54016357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139247306	chr10:54016395-54016396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553872068	chr10:54016410-54016411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183887039	chr10:54016455-54016456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541949623	chr10:54016497-54016498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11001385	chr10:54016619-54016620	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs143786763	chr10:54016690-54016691	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs530569909	chr10:54016716-54016717	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs530381671	chr10:54016729-54016730	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs12569472	chr10:54016782-54016783	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs111689012	chr10:54016790-54016791	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs34901353	chr10:54016799-54016800	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs368542560	chr10:54016806-54016807	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs566460991	chr10:54016819-54016820	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs186803935	chr10:54016926-54016927	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs551983292	chr10:54016946-54016947	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs139359771	chr10:54016988-54016989	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs150054235	chr10:54016990-54016991	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs554860718	chr10:54017068-54017069	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs568389202	chr10:54017080-54017081	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs534201120	chr10:54017086-54017087	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54002000-54042000	Weak transcription	Aorta	Aorta
2	chr10:54008800-54016600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:54010000-54023200	Weak transcription	Psoas Muscle	Psoas
4	chr10:54011000-54016600	Weak transcription	HSMM	muscle
5	chr10:54012800-54019000	Weak transcription	Right Atrium	heart
6	chr10:54014200-54016800	Weak transcription	Fetal Muscle Leg	muscle
7	chr10:54014600-54015200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr10:54014800-54015200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:54014800-54016400	Weak transcription	HSMMtube	muscle
10	chr10:54015000-54016600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr10:54015200-54016000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr10:54015200-54018600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:54016000-54017400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr10:54016000-54019600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:54016000-54019600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr10:54016200-54016600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:54016200-54016800	Enhancers	Hela-S3	cervix
18	chr10:54016200-54017200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr10:54016400-54016800	Enhancers	HSMMtube	muscle
20	chr10:54016400-54017200	Enhancers	HMEC	breast
21	chr10:54016400-54017400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr10:54016400-54017400	Enhancers	NHEK	skin
23	chr10:54016600-54016800	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr10:54016600-54016800	Enhancers	GM12878-XiMat	blood
25	chr10:54016600-54017000	Enhancers	Fetal Intestine Large	intestine
26	chr10:54016600-54017200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr10:54016600-54017200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr10:54016600-54017200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr10:54016600-54017200	Enhancers	HSMM	muscle
30	chr10:54016600-54017400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:54016600-54017400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr10:54016600-54017400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:54016600-54017400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr10:54016600-54017400	Enhancers	A549	lung
35	chr10:54016800-54017000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr10:54016800-54017200	Flanking Active TSS	HSMMtube	muscle
37	chr10:54016800-54017400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr10:54016800-54017400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr10:54016800-54017400	Enhancers	Fetal Muscle Leg	muscle
40	chr10:54016800-54017400	Enhancers	Left Ventricle	heart
41	chr10:54016800-54017400	Flanking Active TSS	GM12878-XiMat	blood
42	chr10:54016800-54017400	Flanking Active TSS	Hela-S3	cervix
43	chr10:54017000-54017400	Enhancers	Small Intestine	intestine
44	chr10:54017000-54019000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr10:54017200-54017400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr10:54017200-54018400	Weak transcription	HSMM	muscle
47	chr10:54017200-54018400	Weak transcription	HSMMtube	muscle
48	chr10:54017200-54018600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr10:54017200-54021000	Weak transcription	HMEC	breast
50	chr10:54017400-54017800	Enhancers	GM12878-XiMat	blood

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