Variant report

Variant	nsv947758
Chromosome Location	chr10:19533128-19570377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:19547526..19550166-chr10:19551019..19552884,2	MCF-7	breast:
2	chr10:19534164..19535892-chr10:19543312..19545061,2	MCF-7	breast:
3	chr10:19551633..19554617-chr10:19556322..19558693,2	K562	blood:
4	chr10:19551633..19554617-chr10:19556322..19558693,2	K562	blood:
5	chr10:19544299..19547180-chr10:19549327..19551757,2	MCF-7	breast:
6	chr10:19547526..19550166-chr10:19551019..19552884,2	MCF-7	breast:
7	chr10:19544299..19547180-chr10:19549327..19551757,2	MCF-7	breast:
8	chr10:19534164..19535892-chr10:19543312..19545061,2	MCF-7	breast:

No data

Extended variants
information (count: 1731 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:1731 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547008138	chr10:19533128-19533129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567490050	chr10:19533156-19533157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11591486	chr10:19533215-19533216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs532558232	chr10:19533227-19533228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76779939	chr10:19533252-19533253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79569252	chr10:19533267-19533268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184678612	chr10:19533281-19533282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77800939	chr10:19533286-19533287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189171951	chr10:19533322-19533323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533684426	chr10:19533357-19533358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558236135	chr10:19533397-19533398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577737583	chr10:19533420-19533421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576391377	chr10:19533423-19533424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73593857	chr10:19533424-19533425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs79827988	chr10:19533475-19533476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200232383	chr10:19533493-19533494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201488473	chr10:19533501-19533502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181737247	chr10:19533536-19533537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12261636	chr10:19533558-19533559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186857308	chr10:19533594-19533595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141521338	chr10:19533601-19533602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565393950	chr10:19533605-19533606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150879263	chr10:19533615-19533616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550979001	chr10:19533623-19533624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138457549	chr10:19533630-19533631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115457871	chr10:19533633-19533634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530463853	chr10:19533652-19533653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548491477	chr10:19533657-19533658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566679192	chr10:19533667-19533668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534136028	chr10:19533709-19533710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551825064	chr10:19533710-19533711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55634409	chr10:19533723-19533724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79581765	chr10:19533750-19533751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537422617	chr10:19533787-19533788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556158995	chr10:19533805-19533806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189645625	chr10:19533849-19533850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111466578	chr10:19533863-19533864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181216138	chr10:19533878-19533879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572235218	chr10:19533899-19533900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562387289	chr10:19533910-19533911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546042275	chr10:19533911-19533912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565355272	chr10:19533921-19533922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186140193	chr10:19533947-19533948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544267326	chr10:19533955-19533956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373147830	chr10:19533993-19533994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72796410	chr10:19533999-19534000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75502716	chr10:19534020-19534021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs16918386	chr10:19534099-19534100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs113703482	chr10:19534105-19534106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189805391	chr10:19534113-19534114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	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
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19504000-19546600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:19535200-19535400	Enhancers	Fetal Lung	lung
3	chr10:19535400-19535600	Enhancers	Fetal Intestine Large	intestine
4	chr10:19535400-19538200	Weak transcription	Fetal Lung	lung
5	chr10:19535600-19542400	Weak transcription	Fetal Intestine Large	intestine
6	chr10:19538000-19572800	Weak transcription	Fetal Intestine Small	intestine
7	chr10:19538200-19538800	Enhancers	Fetal Lung	lung
8	chr10:19538800-19539200	Weak transcription	Fetal Lung	lung
9	chr10:19539200-19542200	Enhancers	Fetal Lung	lung
10	chr10:19539600-19540000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:19540000-19540800	Enhancers	NHLF	lung
12	chr10:19540200-19541200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:19541000-19541400	Enhancers	Fetal Kidney	kidney
14	chr10:19542400-19543000	Strong transcription	Fetal Intestine Large	intestine
15	chr10:19543000-19547200	Weak transcription	Fetal Intestine Large	intestine
16	chr10:19545400-19546400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr10:19546600-19548000	Strong transcription	Duodenum Mucosa	Duodenum
18	chr10:19547000-19549800	Weak transcription	HepG2	liver
19	chr10:19547200-19548600	Strong transcription	Fetal Intestine Large	intestine
20	chr10:19548000-19558200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr10:19548600-19587000	Weak transcription	Fetal Intestine Large	intestine
22	chr10:19558200-19560200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr10:19559600-19560000	Enhancers	Fetal Brain Male	brain
24	chr10:19560200-19561400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr10:19561400-19561800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
26	chr10:19561800-19572200	Weak transcription	Duodenum Mucosa	Duodenum

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