Variant report

Variant	nsv947886
Chromosome Location	chr10:43072880-43077094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:43075667-43075820	HepG2	liver:	n/a	n/a
2	CTCF	chr10:43073700-43073850	K562	blood:	n/a	n/a
3	CTCF	chr10:43075986-43076015	GM13976	blood:	n/a	n/a
4	POLR2A	chr10:43074019-43074050	A549	lung:	n/a	n/a
5	POLR2A	chr10:43072812-43072905	MCF-7	breast:	n/a	n/a
6	POLR2A	chr10:43074008-43074014	A549	lung:	n/a	n/a
7	POLR2A	chr10:43073984-43074187	HepG2	liver:	n/a	n/a
8	POLR2A	chr10:43073842-43073853	MCF-7	breast:	n/a	n/a
9	POLR2A	chr10:43073708-43073711	MCF-7	breast:	n/a	n/a
10	POLR2A	chr10:43073725-43073822	MCF-7	breast:	n/a	n/a
11	POLR2A	chr10:43073956-43073968	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr10:43075824-43075938	HepG2	liver:	n/a	n/a
13	POLR2A	chr10:43072728-43072946	Hela-S3	cervix:	n/a	n/a
14	ZNF263	chr10:43073614-43073968	HEK293-T-REx	kidney:	n/a	chr10:43073813-43073834 chr10:43073827-43073836

Variant related genes	Relation type
ENSG00000271831	TF binding region
ENSG00000272319	TF binding region
ENSG00000272387	TF binding region

Extended variants
information (count: 158 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546877295	chr10:43072880-43072881	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs565104714	chr10:43072901-43072902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs532553449	chr10:43072946-43072947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs139513849	chr10:43073621-43073622	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs552527411	chr10:43073626-43073627	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs571123834	chr10:43073660-43073661	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs570796935	chr10:43073662-43073663	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs538196995	chr10:43073718-43073719	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs377634636	chr10:43073731-43073732	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs144410221	chr10:43073744-43073745	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs538189838	chr10:43073754-43073755	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs535916829	chr10:43073773-43073774	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs189357699	chr10:43073799-43073800	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs147393472	chr10:43073800-43073801	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs181971071	chr10:43073803-43073804	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs139781591	chr10:43073809-43073810	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs145280894	chr10:43073818-43073819	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs544185890	chr10:43073833-43073834	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs562821667	chr10:43073855-43073856	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs145072421	chr10:43073861-43073862	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs17157474	chr10:43073895-43073896	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs568368539	chr10:43073898-43073899	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs34326544	chr10:43073904-43073905	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs538925752	chr10:43073907-43073908	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs112213116	chr10:43073920-43073921	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs374371666	chr10:43073995-43073996	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs185801414	chr10:43073999-43074000	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs367704241	chr10:43074007-43074008	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs570966450	chr10:43074088-43074089	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs191053284	chr10:43074092-43074093	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs115903135	chr10:43074129-43074130	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs374037656	chr10:43074165-43074166	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs568478560	chr10:43074168-43074169	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs535828729	chr10:43074189-43074190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112984850	chr10:43074216-43074217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17157476	chr10:43074218-43074219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs533687918	chr10:43074255-43074256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73262702	chr10:43074279-43074280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540763361	chr10:43074281-43074282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560649404	chr10:43074340-43074341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576965514	chr10:43074352-43074353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10793628	chr10:43074385-43074386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs556483546	chr10:43074391-43074392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142789056	chr10:43074410-43074411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs41462444	chr10:43074443-43074444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560327943	chr10:43074461-43074462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527748343	chr10:43074534-43074535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545986749	chr10:43074567-43074568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181273361	chr10:43074570-43074571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141272263	chr10:43074580-43074581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Lung cancer	21569311	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43074000-43076400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr10:43076000-43088400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr10:43076200-43079400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:43076400-43076800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:43076400-43078200	Weak transcription	Pancreas	Pancrea
6	chr10:43076400-43079000	Weak transcription	Fetal Intestine Large	intestine
7	chr10:43076400-43083000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr10:43076600-43078200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr10:43076600-43080400	Weak transcription	Right Ventricle	heart
10	chr10:43076600-43083400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr10:43076800-43082400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:43076800-43083000	Weak transcription	Thymus	Thymus
13	chr10:43076800-43087000	Weak transcription	Fetal Heart	heart
14	chr10:43077000-43080400	Weak transcription	Fetal Lung	lung
15	chr10:43077000-43083000	Weak transcription	Left Ventricle	heart
16	chr10:43077000-43083000	Weak transcription	Placenta Amnion	Placenta Amnion

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