Variant report

Variant	nsv442182
Chromosome Location	chr10:52391456-52393828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:52392679-52392879	K562	blood:	n/a	n/a
2	FAM48A	chr10:52392770-52392887	GM12878	blood:	n/a	n/a
3	POLR2A	chr10:52393414-52393423	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr10:52391868-52391876	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr10:52391717-52391917	MCF10A-Er-Src	breast:	n/a	n/a
6	WRNIP1	chr10:52392274-52392286	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52389046..52395992-chr10:52408718..52416095,10	K562	blood:
2	chr10:52364376..52366700-chr10:52391837..52394497,2	K562	blood:
3	chr10:52388132..52389633-chr10:52392535..52394699,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASAH2B-2	chr10:52389337-52401211	ENSG00000226200.2

No data

Variant related genes	Relation type
ENSG00000231588	TF binding region
ENSG00000231345	chromatin interactions
ENSG00000230036	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186177623	chr10:52391458-52391459	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs543327515	chr10:52391502-52391503	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs376647260	chr10:52391504-52391505	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs563569404	chr10:52391533-52391534	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs188498316	chr10:52391559-52391560	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs549354635	chr10:52391564-52391565	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs57283638	chr10:52391585-52391586	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs559936316	chr10:52391632-52391633	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs373489217	chr10:52391646-52391647	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs181024916	chr10:52391657-52391658	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs185006275	chr10:52391674-52391675	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs537624605	chr10:52391703-52391704	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs376036899	chr10:52391732-52391733	Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs149902540	chr10:52391804-52391805	Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs567908091	chr10:52391828-52391829	Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs544310036	chr10:52391831-52391832	Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs539213828	chr10:52391860-52391861	Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs12247712	chr10:52391874-52391875	Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191032156	chr10:52391941-52391942	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs79011296	chr10:52392003-52392004	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs573016534	chr10:52392007-52392008	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs183128498	chr10:52392051-52392052	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs534397379	chr10:52392092-52392093	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs187056320	chr10:52392101-52392102	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs529985284	chr10:52392130-52392131	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs191399589	chr10:52392156-52392157	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs373758614	chr10:52392171-52392172	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs183306316	chr10:52392194-52392195	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs542142551	chr10:52392243-52392244	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs374987210	chr10:52392295-52392296	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs573932713	chr10:52392372-52392373	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs560392783	chr10:52392377-52392378	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs527442449	chr10:52392392-52392393	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs575029587	chr10:52392438-52392439	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs371092425	chr10:52392495-52392496	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs200860634	chr10:52392503-52392504	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs528627679	chr10:52392517-52392518	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs551608160	chr10:52392556-52392557	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs74648088	chr10:52392642-52392643	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs531022549	chr10:52392711-52392712	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs188141781	chr10:52392886-52392887	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs79371404	chr10:52392907-52392908	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs77717093	chr10:52392908-52392909	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs75947830	chr10:52392910-52392911	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs78296576	chr10:52392912-52392913	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs567666357	chr10:52392948-52392949	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs536537877	chr10:52393033-52393034	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs60504756	chr10:52393153-52393154	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs147601040	chr10:52393156-52393157	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs141729844	chr10:52393197-52393198	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52385400-52392400	Weak transcription	Lung	lung
2	chr10:52385600-52392200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:52385600-52392200	Weak transcription	Left Ventricle	heart
4	chr10:52385600-52392400	Weak transcription	Gastric	stomach
5	chr10:52385600-52393000	Weak transcription	Pancreas	Pancrea
6	chr10:52385600-52393600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr10:52385600-52395200	Weak transcription	Esophagus	oesophagus
8	chr10:52385800-52391600	Weak transcription	Brain Angular Gyrus	brain
9	chr10:52385800-52392800	Weak transcription	Aorta	Aorta
10	chr10:52385800-52394800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:52385800-52395000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr10:52385800-52396000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr10:52385800-52396800	Weak transcription	Fetal Brain Male	brain
14	chr10:52385800-52397000	Weak transcription	Psoas Muscle	Psoas
15	chr10:52385800-52397000	Weak transcription	Small Intestine	intestine
16	chr10:52386000-52391600	Weak transcription	Fetal Kidney	kidney
17	chr10:52386000-52391600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr10:52386000-52392200	Weak transcription	Fetal Stomach	stomach
19	chr10:52386000-52392200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr10:52386000-52392400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr10:52386000-52392400	Weak transcription	Fetal Intestine Small	intestine
22	chr10:52386000-52393400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr10:52386000-52394600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:52386000-52394800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:52386000-52394800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:52386000-52394800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:52386000-52394800	Weak transcription	HSMM	muscle
28	chr10:52386000-52395000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr10:52386000-52395200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr10:52386000-52395800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr10:52386000-52396000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr10:52386000-52397000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr10:52386000-52400400	Weak transcription	Fetal Lung	lung
34	chr10:52386200-52396200	Weak transcription	Primary B cells from cord blood	blood
35	chr10:52386200-52396200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr10:52386400-52393600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr10:52388200-52394600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr10:52388400-52394600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:52389600-52396000	Weak transcription	GM12878-XiMat	blood
40	chr10:52389800-52394400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:52390200-52392000	Weak transcription	Adipose Nuclei	Adipose
42	chr10:52390200-52394000	Weak transcription	Brain Anterior Caudate	brain
43	chr10:52390200-52394200	Weak transcription	Ovary	ovary
44	chr10:52390200-52397000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr10:52390200-52397000	Weak transcription	Brain Hippocampus Middle	brain
46	chr10:52390400-52392000	Weak transcription	Fetal Muscle Leg	muscle
47	chr10:52390400-52393800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr10:52390600-52392600	Weak transcription	Fetal Intestine Large	intestine
49	chr10:52390800-52392800	Weak transcription	Liver	Liver
50	chr10:52390800-52396600	Weak transcription	Primary B cells from peripheral blood	blood

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