Variant report

Variant	nsv895458
Chromosome Location	chr10:56731004-56808806
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	chr10:56802881..56805062-chr10:56805603..56807529,2	K562	blood:
2	chr10:56741188..56742845-chr10:56743617..56746520,3	K562	blood:
3	chr10:56765862..56768226-chr10:56771478..56774525,3	K562	blood:
4	chr10:56765862..56768226-chr10:56771478..56774525,3	K562	blood:
5	chr10:56732642..56733602-chr10:56755180..56756034,2	MCF-7	breast:
6	chr10:56741188..56742845-chr10:56743617..56746520,3	K562	blood:
7	chr10:56732642..56733602-chr10:56755180..56756034,2	MCF-7	breast:
8	chr10:56802881..56805062-chr10:56805603..56807529,2	K562	blood:

No data

Extended variants
information (count: 885 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:885 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536327478	chr10:56748626-56748627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs180872693	chr10:56748631-56748632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs553120269	chr10:56748642-56748643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs375778352	chr10:56748664-56748665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs185152251	chr10:56748713-56748714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs12414099	chr10:56748756-56748757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs546308980	chr10:56748787-56748788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs558417777	chr10:56748849-56748850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs112664392	chr10:56748853-56748854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs531845553	chr10:56748855-56748856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs189809391	chr10:56748892-56748893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs556907323	chr10:56748919-56748920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs144930187	chr10:56748920-56748921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs542670141	chr10:56748984-56748985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs148270617	chr10:56748990-56748991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs528283906	chr10:56749059-56749060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs544917777	chr10:56749078-56749079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs12265172	chr10:56749096-56749097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs529530072	chr10:56749138-56749139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs550919057	chr10:56749194-56749195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs567237266	chr10:56749201-56749202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs548100138	chr10:56749210-56749211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs546628709	chr10:56749226-56749227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs566493199	chr10:56749238-56749239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs566330970	chr10:56749294-56749295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs141296995	chr10:56749306-56749307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs181425496	chr10:56749353-56749354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs571831887	chr10:56749358-56749359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs142620767	chr10:56760404-56760405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs187989829	chr10:56760413-56760414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs572108293	chr10:56760447-56760448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs534739134	chr10:56760448-56760449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs147602060	chr10:56760449-56760450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs117460198	chr10:56760487-56760488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs2141839	chr10:56760538-56760539	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs555002070	chr10:56760539-56760540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs375661608	chr10:56760541-56760542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs2141840	chr10:56760565-56760566	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs144482038	chr10:56760587-56760588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs147781358	chr10:56760598-56760599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs528076695	chr10:56760626-56760627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs551422714	chr10:56760675-56760676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs564895457	chr10:56760694-56760695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs530490322	chr10:56760706-56760707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs550662095	chr10:56760742-56760743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs534554350	chr10:56760769-56760770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs553016050	chr10:56760798-56760799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs192267758	chr10:56760843-56760844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs371929241	chr10:56760847-56760848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs77519415	chr10:56760861-56760862	ZNF genes & repeats	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
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56748600-56749400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:56760400-56761600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:56760800-56761600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr10:56761000-56761600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:56761400-56762200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr10:56761600-56765400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr10:56761600-56770200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:56762400-56763600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr10:56762800-56763800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:56763400-56763800	Enhancers	Fetal Lung	lung
11	chr10:56766400-56767000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr10:56769800-56770600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr10:56770000-56771000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:56770200-56770400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr10:56770400-56770600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:56778200-56780600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr10:56778600-56778800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr10:56778800-56780000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr10:56779000-56779400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:56779200-56779600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr10:56779200-56779600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr10:56779200-56779800	Enhancers	Fetal Lung	lung
23	chr10:56779600-56784600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr10:56780000-56780400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr10:56780400-56784400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:56780600-56784200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr10:56784200-56785200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr10:56784400-56785000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:56784400-56785000	Enhancers	Brain Cingulate Gyrus	brain
30	chr10:56784400-56785000	Enhancers	Fetal Heart	heart
31	chr10:56784400-56785200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:56784600-56785200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr10:56785200-56786200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr10:56786400-56786600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr10:56791800-56793000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:56793000-56793200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:56793200-56793400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:56793600-56794400	Enhancers	HUVEC	blood vessel
39	chr10:56799000-56799400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr10:56807800-56809400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr10:56808200-56809200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:56808400-56809200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr10:56808400-56809400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr10:56808600-56809200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr10:56808800-56809200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr10:56808800-56809200	Enhancers	Brain Germinal Matrix	brain

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