Variant report

Variant	nsv540637
Chromosome Location	chr10:56676809-56800009
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:56765862..56768226-chr10:56771478..56774525,3	K562	blood:
2	chr10:56732642..56733602-chr10:56755180..56756034,2	MCF-7	breast:
3	chr10:56716657..56719103-chr10:56719705..56721791,2	MCF-7	breast:
4	chr10:56713690..56716657-chr10:56717278..56720130,2	K562	blood:
5	chr10:56700000..56702785-chr10:56708737..56710411,2	K562	blood:
6	chr10:56732642..56733602-chr10:56755180..56756034,2	MCF-7	breast:
7	chr10:56716657..56719103-chr10:56719705..56721791,2	MCF-7	breast:
8	chr10:56765862..56768226-chr10:56771478..56774525,3	K562	blood:
9	chr10:56741188..56742845-chr10:56743617..56746520,3	K562	blood:
10	chr10:56713690..56716657-chr10:56717278..56720130,2	K562	blood:
11	chr10:56700000..56702785-chr10:56708737..56710411,2	K562	blood:
12	chr10:56741188..56742845-chr10:56743617..56746520,3	K562	blood:

No data

Extended variants
information (count: 963 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:963 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188073699	chr10:56693279-56693280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543715030	chr10:56693298-56693299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78643735	chr10:56693333-56693334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139853575	chr10:56693336-56693337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575349420	chr10:56693341-56693342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1670815	chr10:56693368-56693369	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548093668	chr10:56693396-56693397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78216104	chr10:56693402-56693403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1706750	chr10:56693408-56693409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192849398	chr10:56693463-56693464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537266039	chr10:56693464-56693465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556949536	chr10:56693495-56693496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142263986	chr10:56693526-56693527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141766801	chr10:56720804-56720805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs540448315	chr10:56720815-56720816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs189700132	chr10:56720825-56720826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs577474533	chr10:56720858-56720859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs11004647	chr10:56720869-56720870	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs150089250	chr10:56720892-56720893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs531701899	chr10:56720903-56720904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs570986074	chr10:56720911-56720912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs34773081	chr10:56720931-56720932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs527452405	chr10:56720939-56720940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs547624546	chr10:56720944-56720945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs570610691	chr10:56720954-56720955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs533306786	chr10:56720955-56720956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs181745531	chr10:56720986-56720987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs569669715	chr10:56721037-56721038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs535157125	chr10:56721059-56721060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs60921055	chr10:56721061-56721062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs142758398	chr10:56721124-56721125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs534086694	chr10:56721130-56721131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs533614578	chr10:56721137-56721138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs117517404	chr10:56721165-56721166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs540165343	chr10:56721204-56721205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs556266418	chr10:56721242-56721243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs564514283	chr10:56721274-56721275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs147373783	chr10:56721317-56721318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs542262599	chr10:56721326-56721327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs1584904	chr10:56721392-56721393	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs186772984	chr10:56721406-56721407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs541227040	chr10:56721416-56721417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs564348855	chr10:56721418-56721419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs140946832	chr10:56721503-56721504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs149402538	chr10:56721528-56721529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs144860967	chr10:56721583-56721584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs548577896	chr10:56721593-56721594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs190481198	chr10:56721636-56721637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs576075109	chr10:56721662-56721663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs148587992	chr10:56721710-56721711	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56693200-56693600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:56720800-56722600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:56721400-56722600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:56722000-56722400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:56722000-56723000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr10:56748600-56749400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:56760400-56761600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:56760800-56761600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr10:56761000-56761600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:56761400-56762200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr10:56761600-56765400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr10:56761600-56770200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:56762400-56763600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr10:56762800-56763800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:56763400-56763800	Enhancers	Fetal Lung	lung
16	chr10:56766400-56767000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr10:56769800-56770600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr10:56770000-56771000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:56770200-56770400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:56770400-56770600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:56778200-56780600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr10:56778600-56778800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:56778800-56780000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:56779000-56779400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:56779200-56779600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:56779200-56779600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr10:56779200-56779800	Enhancers	Fetal Lung	lung
28	chr10:56779600-56784600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr10:56780000-56780400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:56780400-56784400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:56780600-56784200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr10:56784200-56785200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr10:56784400-56785000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:56784400-56785000	Enhancers	Brain Cingulate Gyrus	brain
35	chr10:56784400-56785000	Enhancers	Fetal Heart	heart
36	chr10:56784400-56785200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr10:56784600-56785200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:56785200-56786200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr10:56786400-56786600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr10:56791800-56793000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr10:56793000-56793200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr10:56793200-56793400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:56793600-56794400	Enhancers	HUVEC	blood vessel
44	chr10:56799000-56799400	Enhancers	HUES48 Cell Line	embryonic stem cell

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