Variant report

Variant	nsv895392
Chromosome Location	chr10:52263910-52291608
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:56)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr10:52270150..52272703-chr10:52318825..52321110,2	MCF-7	breast:
2	chr10:52272629..52275165-chr10:52281578..52283752,2	K562	blood:
3	chr10:52230142..52232797-chr10:52261125..52263960,2	MCF-7	breast:
4	chr10:52272048..52276086-chr10:52381938..52384651,3	MCF-7	breast:
5	chr10:52261680..52263393-chr10:52269137..52270888,2	MCF-7	breast:
6	chr10:52288714..52294578-chr10:52381112..52386074,5	K562	blood:
7	chr10:52285770..52288647-chr10:52382026..52387043,4	K562	blood:
8	chr10:52089314..52090958-chr10:52289108..52291926,2	K562	blood:
9	chr10:52269188..52271460-chr10:52277484..52280153,2	MCF-7	breast:
10	chr10:52289138..52291213-chr10:52296905..52299166,2	K562	blood:
11	chr10:52117604..52119516-chr10:52283791..52286665,2	K562	blood:
12	chr10:52271610..52273554-chr10:52274092..52276247,2	MCF-7	breast:
13	chr10:52264059..52268097-chr10:52270623..52273217,5	K562	blood:
14	chr10:52228792..52231696-chr10:52270677..52273544,2	MCF-7	breast:
15	chr10:52268790..52270873-chr10:52275061..52278786,3	MCF-7	breast:
16	chr10:52227177..52229638-chr10:52267267..52268794,2	K562	blood:
17	chr10:52269833..52272327-chr17:57922968..57924991,2	MCF-7	breast:
18	chr10:52271127..52273442-chr10:52273762..52275494,2	MCF-7	breast:
19	chr10:52085739..52087419-chr10:52285865..52287749,2	K562	blood:
20	chr10:52259203..52261063-chr10:52265716..52267291,2	K562	blood:
21	chr10:52288714..52291350-chr10:52382116..52385010,2	K562	blood:
22	chr10:52264079..52265677-chr10:52268194..52270152,2	K562	blood:
23	chr10:52285770..52287442-chr10:52383427..52386172,2	K562	blood:
24	chr10:52279739..52282600-chr10:52286239..52288790,2	K562	blood:
25	chr10:52260554..52263861-chr10:52272806..52275340,3	K562	blood:
26	chr10:52272246..52274913-chr10:52277739..52279580,2	MCF-7	breast:
27	chr10:52289343..52291383-chr10:52292026..52293996,2	K562	blood:
28	chr10:52264079..52265677-chr10:52268194..52270152,2	K562	blood:
29	chr10:52261590..52264231-chr10:52382016..52385854,3	MCF-7	breast:
30	chr10:52272629..52275165-chr10:52281578..52283752,2	K562	blood:
31	chr10:52282243..52284789-chr10:52286027..52288655,2	K562	blood:
32	chr10:52266589..52268433-chr10:52270760..52273217,2	K562	blood:
33	chr10:52272246..52274913-chr10:52277739..52279580,2	MCF-7	breast:
34	chr10:52273248..52274821-chr10:52291297..52292939,2	MCF-7	breast:
35	chr10:52287492..52289090-chr10:52346967..52349226,2	K562	blood:
36	chr10:52285415..52288403-chr10:52289940..52291590,2	K562	blood:
37	chr10:52270406..52272134-chr10:52383190..52385658,2	MCF-7	breast:
38	chr10:52287244..52289297-chr10:52294304..52296791,2	K562	blood:
39	chr10:52176158..52178831-chr10:52279498..52281000,2	MCF-7	breast:
40	chr10:52227035..52229845-chr10:52267079..52268728,2	MCF-7	breast:
41	chr10:52260323..52263504-chr10:52265636..52267832,3	MCF-7	breast:
42	chr10:52269188..52271460-chr10:52277484..52280153,2	MCF-7	breast:
43	chr10:52271127..52273442-chr10:52273762..52275494,2	MCF-7	breast:
44	chr10:52282243..52284789-chr10:52286027..52288655,2	K562	blood:
45	chr10:52269936..52272256-chr10:52382493..52385087,2	K562	blood:
46	chr10:52177517..52180789-chr10:52285364..52288556,3	K562	blood:
47	chr10:52285415..52288403-chr10:52289940..52291590,2	K562	blood:
48	chr10:52268790..52270873-chr10:52275061..52278786,3	MCF-7	breast:
49	chr10:52273248..52274821-chr10:52291297..52292939,2	MCF-7	breast:
50	chr10:52271610..52273554-chr10:52274092..52276247,2	MCF-7	breast:

No data

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

Extended variants
information (count: 911 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:911 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2339507	chr10:52263910-52263911	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563663978	chr10:52263973-52263974	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs374238911	chr10:52263999-52264000	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543120930	chr10:52264032-52264033	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs560022072	chr10:52264058-52264059	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188203344	chr10:52264081-52264082	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs12252767	chr10:52264082-52264083	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs551810012	chr10:52264087-52264088	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs78279949	chr10:52264116-52264117	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs552086885	chr10:52264150-52264151	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs73316690	chr10:52264241-52264242	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs76856456	chr10:52264353-52264354	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567866585	chr10:52264385-52264386	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs569309672	chr10:52264422-52264423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367724122	chr10:52264429-52264430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61152656	chr10:52264437-52264438	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554282618	chr10:52264482-52264483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138905661	chr10:52264511-52264512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534766200	chr10:52264560-52264561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557773024	chr10:52264599-52264600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577909532	chr10:52264615-52264616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536943323	chr10:52264644-52264645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557418196	chr10:52264666-52264667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574065241	chr10:52264717-52264718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567664751	chr10:52264767-52264768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543159474	chr10:52264785-52264786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114462776	chr10:52264806-52264807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114758536	chr10:52264819-52264820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536301841	chr10:52264878-52264879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559858207	chr10:52264956-52264957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573361174	chr10:52265051-52265052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373887592	chr10:52265056-52265057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79155715	chr10:52265065-52265066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77095803	chr10:52265088-52265089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17440448	chr10:52265118-52265119	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs78240615	chr10:52265175-52265176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74363145	chr10:52265244-52265245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7920818	chr10:52265265-52265266	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528827950	chr10:52265275-52265276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548669470	chr10:52265355-52265356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370478172	chr10:52265400-52265401	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182033818	chr10:52265421-52265422	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs3011768	chr10:52265458-52265459	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551598438	chr10:52265497-52265498	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150778818	chr10:52265579-52265580	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537384064	chr10:52265585-52265586	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7071001	chr10:52265591-52265592	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567685884	chr10:52265592-52265593	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2983372	chr10:52265609-52265610	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs117467678	chr10:52265618-52265619	Weak transcription Enhancers Genic enhancers	n/a	n/a	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:750 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52247000-52271200	Weak transcription	Colon Smooth Muscle	Colon
2	chr10:52249200-52266800	Weak transcription	Primary B cells from cord blood	blood
3	chr10:52253800-52268200	Weak transcription	Fetal Intestine Small	intestine
4	chr10:52255000-52267200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:52255400-52266600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:52258000-52266600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr10:52258000-52266600	Weak transcription	Ovary	ovary
8	chr10:52258000-52267200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr10:52258000-52271800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:52260600-52264000	Enhancers	Brain Angular Gyrus	brain
11	chr10:52260600-52264000	Enhancers	HepG2	liver
12	chr10:52260800-52264400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr10:52260800-52264600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr10:52260800-52264600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:52260800-52264600	Enhancers	Brain Cingulate Gyrus	brain
16	chr10:52261000-52268200	Weak transcription	Gastric	stomach
17	chr10:52261200-52264000	Enhancers	Brain Anterior Caudate	brain
18	chr10:52261400-52264000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr10:52261400-52264400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:52261400-52266600	Weak transcription	Fetal Lung	lung
21	chr10:52261600-52264200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr10:52261600-52264200	Enhancers	Fetal Heart	heart
23	chr10:52261600-52264400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr10:52261600-52264600	Enhancers	Brain Hippocampus Middle	brain
25	chr10:52261800-52264000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:52261800-52264000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr10:52261800-52264200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:52261800-52264600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr10:52261800-52266000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:52261800-52271400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:52262000-52264000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr10:52262000-52266800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr10:52262000-52270800	Weak transcription	HSMMtube	muscle
34	chr10:52262200-52265400	Weak transcription	Pancreas	Pancrea
35	chr10:52262200-52266200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr10:52262200-52267400	Weak transcription	Small Intestine	intestine
37	chr10:52262200-52271200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr10:52262200-52287200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr10:52262400-52266400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr10:52262400-52266400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr10:52262400-52267600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr10:52262400-52267800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr10:52262400-52268600	Weak transcription	A549	lung
44	chr10:52262400-52270600	Weak transcription	Primary T cells from cord blood	blood
45	chr10:52262400-52271800	Weak transcription	Fetal Stomach	stomach
46	chr10:52262400-52272600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr10:52262600-52265200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr10:52262600-52267800	Weak transcription	Fetal Intestine Large	intestine
49	chr10:52262600-52271200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr10:52262800-52264800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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