Variant report

Variant	nsv895391
Chromosome Location	chr10:52260398-52291608
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:63)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr10:52288714..52294578-chr10:52381112..52386074,5	K562	blood:
2	chr10:52227177..52229638-chr10:52267267..52268794,2	K562	blood:
3	chr10:52227035..52229845-chr10:52267079..52268728,2	MCF-7	breast:
4	chr10:52266589..52268433-chr10:52270760..52273217,2	K562	blood:
5	chr10:52289343..52291383-chr10:52292026..52293996,2	K562	blood:
6	chr10:52260323..52263504-chr10:52265636..52267832,3	MCF-7	breast:
7	chr10:52120816..52123329-chr10:52287278..52290056,2	MCF-7	breast:
8	chr10:52269833..52272327-chr17:57922968..57924991,2	MCF-7	breast:
9	chr10:52279739..52282600-chr10:52286239..52288790,2	K562	blood:
10	chr10:52282243..52284789-chr10:52286027..52288655,2	K562	blood:
11	chr10:52272246..52274913-chr10:52277739..52279580,2	MCF-7	breast:
12	chr10:52117604..52119516-chr10:52283791..52286665,2	K562	blood:
13	chr10:52089314..52090958-chr10:52289108..52291926,2	K562	blood:
14	chr10:52270406..52272134-chr10:52383190..52385658,2	MCF-7	breast:
15	chr10:52272629..52275165-chr10:52281578..52283752,2	K562	blood:
16	chr10:52288714..52291350-chr10:52382116..52385010,2	K562	blood:
17	chr10:52271127..52273442-chr10:52273762..52275494,2	MCF-7	breast:
18	chr10:52289138..52291213-chr10:52296905..52299166,2	K562	blood:
19	chr10:52259203..52261063-chr10:52265716..52267291,2	K562	blood:
20	chr10:52259203..52261063-chr10:52265716..52267291,2	K562	blood:
21	chr10:52282243..52284789-chr10:52286027..52288655,2	K562	blood:
22	chr10:52269188..52271460-chr10:52277484..52280153,2	MCF-7	breast:
23	chr10:52260323..52263504-chr10:52265636..52267832,3	MCF-7	breast:
24	chr10:52260554..52263861-chr10:52272806..52275340,3	K562	blood:
25	chr10:52268790..52270873-chr10:52275061..52278786,3	MCF-7	breast:
26	chr10:52230142..52232797-chr10:52261125..52263960,2	MCF-7	breast:
27	chr10:52226422..52229059-chr10:52270774..52272977,2	MCF-7	breast:
28	chr10:52279739..52282600-chr10:52286239..52288790,2	K562	blood:
29	chr10:52264059..52268097-chr10:52270623..52273217,5	K562	blood:
30	chr10:52285770..52288647-chr10:52382026..52387043,4	K562	blood:
31	chr10:52177517..52180789-chr10:52285364..52288556,3	K562	blood:
32	chr10:52264079..52265677-chr10:52268194..52270152,2	K562	blood:
33	chr10:52261680..52263393-chr10:52269137..52270888,2	MCF-7	breast:
34	chr10:52272246..52274913-chr10:52277739..52279580,2	MCF-7	breast:
35	chr10:52261590..52264231-chr10:52382016..52385854,3	MCF-7	breast:
36	chr10:52230115..52234351-chr10:52258743..52262560,5	MCF-7	breast:
37	chr10:52264059..52268097-chr10:52270623..52273217,5	K562	blood:
38	chr10:52271127..52273442-chr10:52273762..52275494,2	MCF-7	breast:
39	chr10:52273248..52274821-chr10:52291297..52292939,2	MCF-7	breast:
40	chr10:52085739..52087419-chr10:52285865..52287749,2	K562	blood:
41	chr10:52261680..52263393-chr10:52269137..52270888,2	MCF-7	breast:
42	chr10:52287492..52289090-chr10:52346967..52349226,2	K562	blood:
43	chr10:52272048..52276086-chr10:52381938..52384651,3	MCF-7	breast:
44	chr10:52270150..52272703-chr10:52318825..52321110,2	MCF-7	breast:
45	chr10:52266589..52268433-chr10:52270760..52273217,2	K562	blood:
46	chr10:52233474..52234062-chr10:52261195..52261976,2	MCF-7	breast:
47	chr10:52271610..52273554-chr10:52274092..52276247,2	MCF-7	breast:
48	chr10:52268790..52270873-chr10:52275061..52278786,3	MCF-7	breast:
49	chr10:52287244..52289297-chr10:52294304..52296791,2	K562	blood:
50	chr10:52176158..52178831-chr10:52279498..52281000,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230036	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000226200	chromatin interactions
ENSG00000225303	chromatin interactions
ENSG00000198964	chromatin interactions

Extended variants
information (count: 1023 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1023 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2144862	chr10:52260398-52260399	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556547641	chr10:52260475-52260476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575218188	chr10:52260511-52260512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562439784	chr10:52260520-52260521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531247334	chr10:52260523-52260524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544616615	chr10:52260538-52260539	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564497339	chr10:52260541-52260542	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs543814572	chr10:52260581-52260582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560975434	chr10:52260637-52260638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs16937722	chr10:52260660-52260661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540307500	chr10:52260769-52260770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192677890	chr10:52260930-52260931	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs532174017	chr10:52260951-52260952	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552463249	chr10:52260979-52260980	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs183778680	chr10:52260991-52260992	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs531737601	chr10:52260998-52260999	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs548216924	chr10:52261084-52261085	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs188789122	chr10:52261102-52261103	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534058580	chr10:52261164-52261165	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs547472656	chr10:52261211-52261212	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs2144863	chr10:52261220-52261221	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539620168	chr10:52261227-52261228	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs556821808	chr10:52261228-52261229	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs200101537	chr10:52261253-52261254	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs372803912	chr10:52261257-52261258	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs368992812	chr10:52261299-52261300	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs549735338	chr10:52261300-52261301	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs576622038	chr10:52261304-52261305	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs540872681	chr10:52261307-52261308	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs149313120	chr10:52261345-52261346	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs554630866	chr10:52261483-52261484	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs574466845	chr10:52261499-52261500	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs538493314	chr10:52261587-52261588	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs144598497	chr10:52261593-52261594	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs192851254	chr10:52261606-52261607	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs148493734	chr10:52261622-52261623	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs77174431	chr10:52261633-52261634	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs373259148	chr10:52261661-52261662	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs571633072	chr10:52261676-52261677	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs534336116	chr10:52261702-52261703	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs12413890	chr10:52261890-52261891	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs72801787	chr10:52261935-52261936	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs142498908	chr10:52261996-52261997	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs201200926	chr10:52262066-52262067	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs71905083	chr10:52262067-52262068	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs80051050	chr10:52262083-52262084	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs76336702	chr10:52262085-52262086	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs527644981	chr10:52262095-52262096	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs56225400	chr10:52262109-52262110	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs368356146	chr10:52262127-52262128	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:881 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52234000-52261600	Weak transcription	Pancreas	Pancrea
2	chr10:52237800-52261800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr10:52244400-52261800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr10:52244800-52261800	Weak transcription	Primary T cells from cord blood	blood
5	chr10:52244800-52262000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr10:52247000-52271200	Weak transcription	Colon Smooth Muscle	Colon
7	chr10:52248000-52261800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:52249200-52266800	Weak transcription	Primary B cells from cord blood	blood
9	chr10:52253800-52268200	Weak transcription	Fetal Intestine Small	intestine
10	chr10:52255000-52267200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:52255400-52266600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:52256400-52261400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr10:52256400-52261800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr10:52256600-52263000	Weak transcription	Right Ventricle	heart
15	chr10:52256800-52260400	Weak transcription	Brain Substantia Nigra	brain
16	chr10:52257000-52261200	Weak transcription	Brain Anterior Caudate	brain
17	chr10:52257000-52261800	Weak transcription	Right Atrium	heart
18	chr10:52257200-52260800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr10:52257200-52260800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr10:52257600-52261800	Weak transcription	Left Ventricle	heart
21	chr10:52257800-52260800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr10:52258000-52260600	Weak transcription	Brain Angular Gyrus	brain
23	chr10:52258000-52260600	Weak transcription	Brain Hippocampus Middle	brain
24	chr10:52258000-52260600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr10:52258000-52260600	Weak transcription	HepG2	liver
26	chr10:52258000-52260800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:52258000-52260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:52258000-52260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:52258000-52260800	Weak transcription	NHEK	skin
30	chr10:52258000-52261000	Weak transcription	NHLF	lung
31	chr10:52258000-52261400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr10:52258000-52261400	Weak transcription	HSMMtube	muscle
33	chr10:52258000-52261600	Weak transcription	Fetal Heart	heart
34	chr10:52258000-52261600	Weak transcription	Hela-S3	cervix
35	chr10:52258000-52261800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr10:52258000-52261800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr10:52258000-52266600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr10:52258000-52266600	Weak transcription	Ovary	ovary
39	chr10:52258000-52267200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr10:52258000-52271800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr10:52258200-52261400	Weak transcription	HSMM	muscle
42	chr10:52258200-52261400	Weak transcription	K562	blood
43	chr10:52258200-52261600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:52258400-52261000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr10:52258400-52261200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:52258400-52261400	Weak transcription	Osteobl	bone
47	chr10:52259200-52261600	Weak transcription	GM12878-XiMat	blood
48	chr10:52260400-52263600	Enhancers	Brain Substantia Nigra	brain
49	chr10:52260600-52261200	Enhancers	Brain Hippocampus Middle	brain
50	chr10:52260600-52261400	Enhancers	Pancreatic Islets	Pancreatic Islet

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