Variant report

Variant	nsv895420
Chromosome Location	chr10:55408854-55473976
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	chr10:55466040..55468835-chr10:55471879..55474110,2	K562	blood:
2	chr10:55466040..55468835-chr10:55471879..55474110,2	K562	blood:

Extended variants
information (count: 1296 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1296 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1489828	chr10:55408854-55408855	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374343688	chr10:55408871-55408872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372974558	chr10:55408964-55408965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536816760	chr10:55408986-55408987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377626695	chr10:55417608-55417609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75680813	chr10:55417643-55417644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11003738	chr10:55417646-55417647	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs7084570	chr10:55417666-55417667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542942349	chr10:55417676-55417677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549364902	chr10:55417684-55417685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116258151	chr10:55417701-55417702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559664492	chr10:55417737-55417738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138747440	chr10:55417754-55417755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573293719	chr10:55417770-55417771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558222932	chr10:55417789-55417790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183761305	chr10:55417790-55417791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34362351	chr10:55417803-55417804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562818109	chr10:55417818-55417819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141581441	chr10:55417821-55417822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557250626	chr10:55417880-55417881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540249046	chr10:55417899-55417900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188479838	chr10:55417937-55417938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181505190	chr10:55417962-55417963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377055565	chr10:55417969-55417970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77067103	chr10:55417973-55417974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114452434	chr10:55417997-55417998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576234235	chr10:55418004-55418005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373609791	chr10:55418011-55418012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375401374	chr10:55418012-55418013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11003740	chr10:55418087-55418088	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375723651	chr10:55418142-55418143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546911710	chr10:55418152-55418153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565385850	chr10:55418208-55418209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564727712	chr10:55418210-55418211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199857845	chr10:55418288-55418289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150294785	chr10:55418305-55418306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186408466	chr10:55418312-55418313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190084698	chr10:55418320-55418321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571683442	chr10:55418357-55418358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181734268	chr10:55418384-55418385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144636261	chr10:55418420-55418421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557090963	chr10:55418427-55418428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567621133	chr10:55418498-55418499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547089983	chr10:55418530-55418531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371533031	chr10:55418540-55418541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553623250	chr10:55418562-55418563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560778205	chr10:55418616-55418617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572787962	chr10:55418623-55418624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1343016	chr10:55418647-55418648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs558391627	chr10:55418653-55418654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Obesity	21956041	CNVD
Developmental delay	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
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55406600-55409000	Enhancers	Fetal Lung	lung
2	chr10:55417600-55418400	Enhancers	Fetal Heart	heart
3	chr10:55418400-55424200	Weak transcription	Fetal Heart	heart
4	chr10:55422400-55423000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr10:55422400-55424400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:55422400-55424400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr10:55423000-55423400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:55423400-55426600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:55423600-55424200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr10:55423800-55424200	Enhancers	Fetal Lung	lung
11	chr10:55424000-55424200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr10:55424000-55424400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr10:55424000-55425000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:55424000-55425000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr10:55424200-55424400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:55424200-55424400	Active TSS	Adipose Nuclei	Adipose
17	chr10:55424200-55424600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:55424200-55424600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr10:55424200-55424600	Active TSS	Fetal Kidney	kidney
20	chr10:55424200-55424600	Active TSS	Stomach Smooth Muscle	stomach
21	chr10:55424200-55424800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:55424200-55424800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr10:55424200-55424800	Flanking Active TSS	Fetal Lung	lung
24	chr10:55424200-55424800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr10:55424200-55425000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:55424200-55425000	Enhancers	Fetal Heart	heart
27	chr10:55424200-55425000	Enhancers	Fetal Intestine Small	intestine
28	chr10:55424200-55425000	Enhancers	Fetal Stomach	stomach
29	chr10:55424400-55424600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:55424400-55424800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:55424400-55424800	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr10:55424400-55424800	Enhancers	Liver	Liver
33	chr10:55424400-55424800	Enhancers	Brain Anterior Caudate	brain
34	chr10:55424400-55424800	Enhancers	Colonic Mucosa	Colon
35	chr10:55424400-55424800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr10:55424400-55424800	Enhancers	Ovary	ovary
37	chr10:55424400-55424800	Enhancers	Right Ventricle	heart
38	chr10:55424400-55425000	Enhancers	Fetal Muscle Leg	muscle
39	chr10:55424600-55424800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:55424600-55424800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:55424600-55424800	Flanking Active TSS	Fetal Kidney	kidney
42	chr10:55424600-55424800	Enhancers	Left Ventricle	heart
43	chr10:55424600-55424800	Enhancers	Pancreas	Pancrea
44	chr10:55424600-55424800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr10:55424600-55424800	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr10:55424600-55424800	Enhancers	HMEC	breast
47	chr10:55424600-55425000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:55424600-55425000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr10:55424600-55425000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr10:55424600-55425000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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