Variant report

Variant	nsv1049266
Chromosome Location	chr10:44296893-44323365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:44312661..44314867-chr10:44316556..44318099,2	K562	blood:
2	chr10:44298175..44301035-chr10:44302749..44304944,3	K562	blood:
3	chr10:44312661..44314867-chr10:44316556..44318099,2	K562	blood:
4	chr10:44305858..44306365-chr12:10923506..10924325,2	MCF-7	breast:
5	chr10:44298175..44301035-chr10:44302749..44304944,3	K562	blood:
6	chr10:44316802..44318990-chr10:44333723..44335318,2	MCF-7	breast:

Extended variants
information (count: 1027 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1027 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10899912	chr10:44296893-44296894	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144348994	chr10:44296907-44296908	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562549058	chr10:44296955-44296956	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529862326	chr10:44296970-44296971	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548718973	chr10:44296987-44296988	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79977099	chr10:44297002-44297003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73276560	chr10:44297015-44297016	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs74394503	chr10:44297019-44297020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527714361	chr10:44297118-44297119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10899913	chr10:44297179-44297180	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs576443697	chr10:44297181-44297182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550410720	chr10:44297183-44297184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568576838	chr10:44297194-44297195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148763937	chr10:44297215-44297216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553929758	chr10:44297280-44297281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572642362	chr10:44297289-44297290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533636488	chr10:44297304-44297305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142474091	chr10:44297321-44297322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151323214	chr10:44297368-44297369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112999074	chr10:44297389-44297390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77736210	chr10:44297433-44297434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574620911	chr10:44297436-44297437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199801358	chr10:44297472-44297473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542082870	chr10:44297474-44297475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201342993	chr10:44297522-44297523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182813096	chr10:44297530-44297531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114411419	chr10:44297554-44297555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552660023	chr10:44297578-44297579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2863760	chr10:44297579-44297580	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531697729	chr10:44297585-44297586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371359699	chr10:44297643-44297644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139140726	chr10:44297661-44297662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187103710	chr10:44297674-44297675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535737474	chr10:44297685-44297686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116377990	chr10:44297700-44297701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546580430	chr10:44297737-44297738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533650394	chr10:44297802-44297803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192957436	chr10:44297919-44297920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10899914	chr10:44297933-44297934	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs185146725	chr10:44298003-44298004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555867878	chr10:44298056-44298057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115451489	chr10:44298079-44298080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368160151	chr10:44298100-44298101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542144556	chr10:44298121-44298122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561439979	chr10:44298125-44298126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560394604	chr10:44298207-44298208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143991809	chr10:44298231-44298232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546335844	chr10:44298236-44298237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190424231	chr10:44298242-44298243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552872401	chr10:44298250-44298251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Lung cancer	18438408	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
Mental retardation	21062444	CNVD
Cancer	21183584	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD

Chromatin state (count:499 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44286000-44302600	Weak transcription	Aorta	Aorta
2	chr10:44290000-44300600	Weak transcription	Osteobl	bone
3	chr10:44290000-44303200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr10:44292600-44304800	Weak transcription	Fetal Muscle Leg	muscle
5	chr10:44293400-44300800	Weak transcription	Right Atrium	heart
6	chr10:44293400-44304600	Weak transcription	Ovary	ovary
7	chr10:44294800-44299400	Weak transcription	Right Ventricle	heart
8	chr10:44295000-44300600	Weak transcription	NHDF-Ad	bronchial
9	chr10:44295000-44311000	Weak transcription	Left Ventricle	heart
10	chr10:44296000-44300000	Weak transcription	Fetal Lung	lung
11	chr10:44296400-44297200	Enhancers	Primary T cells from cord blood	blood
12	chr10:44296400-44297400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:44296600-44297200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr10:44296600-44297200	Enhancers	Fetal Stomach	stomach
15	chr10:44296600-44298200	Enhancers	Adipose Nuclei	Adipose
16	chr10:44296800-44297000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:44296800-44297000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr10:44296800-44297400	Enhancers	Placenta	Placenta
19	chr10:44297000-44297200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr10:44297000-44297200	Enhancers	Fetal Thymus	thymus
21	chr10:44297000-44297600	Enhancers	Fetal Muscle Trunk	muscle
22	chr10:44297000-44300400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:44297200-44297600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr10:44297200-44302800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr10:44297600-44298200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:44297600-44299400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr10:44297600-44302800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr10:44298200-44300200	Weak transcription	Adipose Nuclei	Adipose
29	chr10:44299200-44299400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr10:44299200-44299600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:44299200-44301400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr10:44299400-44299600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:44299400-44299600	Enhancers	Right Ventricle	heart
34	chr10:44299400-44300400	Enhancers	Fetal Muscle Trunk	muscle
35	chr10:44299600-44301400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:44299600-44303000	Weak transcription	Fetal Thymus	thymus
37	chr10:44299800-44302800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:44300000-44300200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr10:44300000-44300400	Enhancers	Fetal Kidney	kidney
40	chr10:44300000-44300800	Enhancers	Fetal Lung	lung
41	chr10:44300000-44301000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:44300200-44300600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr10:44300200-44301000	Enhancers	Adipose Nuclei	Adipose
44	chr10:44300200-44301400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:44300400-44301000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr10:44300400-44301400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr10:44300400-44304800	Weak transcription	Fetal Kidney	kidney
48	chr10:44300600-44300800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr10:44300600-44301600	Enhancers	NHDF-Ad	bronchial
50	chr10:44300600-44307400	Enhancers	Osteobl	bone

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