Variant report

Variant	nsv975775
Chromosome Location	chr10:61477927-61486070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:61484293..61486281-chr10:61496139..61498456,2	K562	blood:
2	chr10:61467975..61470847-chr10:61475638..61478406,3	K562	blood:
3	chr10:61471063..61472911-chr10:61475753..61478637,2	K562	blood:
4	chr10:61469713..61471887-chr10:61477464..61479752,2	MCF-7	breast:
5	chr10:61450447..61453283-chr10:61477796..61479955,2	K562	blood:

Variant related genes	Relation type
ENSG00000165449	chromatin interactions

Extended variants
information (count: 214 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202094012	chr10:61477954-61477955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148896236	chr10:61477981-61477982	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372543242	chr10:61478046-61478047	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182207062	chr10:61478057-61478058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186805026	chr10:61478059-61478060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550055710	chr10:61478099-61478100	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572121108	chr10:61478126-61478127	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142364120	chr10:61478150-61478151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538230848	chr10:61478172-61478173	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547017129	chr10:61478190-61478191	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546390878	chr10:61478200-61478201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191276740	chr10:61478276-61478277	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183394809	chr10:61478283-61478284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75611766	chr10:61478286-61478287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs377393994	chr10:61478299-61478300	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573800512	chr10:61478364-61478365	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs114536233	chr10:61478387-61478388	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs4948238	chr10:61478390-61478391	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189003174	chr10:61478417-61478418	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576768254	chr10:61478428-61478429	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545400665	chr10:61478480-61478481	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs7099415	chr10:61478521-61478522	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371939073	chr10:61478571-61478572	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565158363	chr10:61478606-61478607	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs144563374	chr10:61478654-61478655	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs138501103	chr10:61478683-61478684	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34455577	chr10:61478697-61478698	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs561269471	chr10:61478737-61478738	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531778426	chr10:61478753-61478754	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2137906	chr10:61478755-61478756	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs76318411	chr10:61478799-61478800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs10821582	chr10:61478819-61478820	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs546955946	chr10:61478830-61478831	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs75188458	chr10:61478870-61478871	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs534741644	chr10:61478930-61478931	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529709608	chr10:61478936-61478937	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs565696431	chr10:61478977-61478978	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs569693968	chr10:61478982-61478983	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372604548	chr10:61478992-61478993	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7917822	chr10:61479001-61479002	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533256963	chr10:61479034-61479035	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558818190	chr10:61479068-61479069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570732871	chr10:61479071-61479072	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs377625225	chr10:61479107-61479108	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534923370	chr10:61479231-61479232	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs553832446	chr10:61479237-61479238	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572397869	chr10:61479240-61479241	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs542693772	chr10:61479255-61479256	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs555031194	chr10:61479293-61479294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs116843718	chr10:61479294-61479295	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
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
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Urothelial carcinoma	21177765	CNVD
abnormal development	18461090	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	20643615	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61482200-61483400	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr10:61482600-61483400	Enhancers	Stomach Mucosa	stomach
3	chr10:61482600-61485600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr10:61483400-61483600	Enhancers	Colonic Mucosa	Colon
5	chr10:61483400-61483600	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr10:61483400-61483800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr10:61483400-61483800	Flanking Active TSS	Stomach Mucosa	stomach
8	chr10:61483400-61486600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr10:61483600-61483800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr10:61483600-61484000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr10:61483600-61484400	Weak transcription	Colonic Mucosa	Colon
12	chr10:61483600-61484400	Enhancers	Psoas Muscle	Psoas
13	chr10:61483600-61484600	Enhancers	Duodenum Mucosa	Duodenum
14	chr10:61483800-61484000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr10:61483800-61484000	Enhancers	Stomach Mucosa	stomach
16	chr10:61483800-61485000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr10:61484000-61484200	Flanking Active TSS	Stomach Mucosa	stomach
18	chr10:61484000-61484400	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr10:61484000-61484400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr10:61484200-61484800	Enhancers	Stomach Mucosa	stomach
21	chr10:61484400-61484600	Enhancers	Colonic Mucosa	Colon
22	chr10:61484400-61485200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr10:61484400-61487000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr10:61484400-61487600	Weak transcription	Psoas Muscle	Psoas
25	chr10:61484600-61485400	Weak transcription	Colonic Mucosa	Colon
26	chr10:61484800-61485200	Weak transcription	Stomach Mucosa	stomach
27	chr10:61485000-61485600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr10:61485200-61486600	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr10:61485200-61486600	Enhancers	Stomach Mucosa	stomach
30	chr10:61485400-61485600	Enhancers	Colonic Mucosa	Colon
31	chr10:61485600-61486000	Weak transcription	Colonic Mucosa	Colon
32	chr10:61485600-61493200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr10:61486000-61486400	Enhancers	Colonic Mucosa	Colon

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