Variant report

Variant	nsv482591
Chromosome Location	chr10:42492996-42642328
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:60)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:60 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr10:42529442..42530392-chr19:27737662..27738480,2	MCF-7	breast:
2	chr1:121482910..121485426-chr10:42527270..42532610,10	MCF-7	breast:
3	chr10:42527395..42527915-chr7:61968790..61969454,6	MCF-7	breast:
4	chr10:42527415..42527915-chr7:61968777..61969450,2	MCF-7	breast:
5	chr10:42527395..42527915-chr7:61970565..61971091,3	MCF-7	breast:
6	chr10:42529603..42530301-chr17:58166691..58167257,2	MCF-7	breast:
7	chr1:121482909..121485419-chr10:42527541..42532488,18	MCF-7	breast:
8	chr10:42530145..42531061-chr19:27738673..27739367,3	MCF-7	breast:
9	chr10:42529421..42530247-chr2:12411785..12412750,2	MCF-7	breast:
10	chr10:42532093..42532747-chr2:154892410..154892910,2	MCF-7	breast:
11	chr10:42528107..42529933-chr8:110778066..110779566,2	MCF-7	breast:
12	chr10:42529082..42529941-chr19:27738664..27739193,3	MCF-7	breast:
13	chr1:224620434..224622448-chr10:42530903..42532481,2	MCF-7	breast:
14	chr10:42532112..42532613-chr19:27734969..27735848,2	MCF-7	breast:
15	chr10:42529282..42529919-chr2:134391577..134392424,2	MCF-7	breast:
16	chr10:42529561..42531107-chr15:41406107..41408391,2	MCF-7	breast:
17	chr10:42396404..42399699-chr10:42528302..42530349,4	MCF-7	breast:
18	chr10:42528281..42529803-chr7:129794745..129796264,2	MCF-7	breast:
19	chr10:42525601..42527915-chr7:61967079..61969468,3	K562	blood:
20	chr10:42526394..42527915-chr7:61967791..61969362,3	MCF-7	breast:
21	chr1:121482971..121485434-chr10:42543133..42544641,3	MCF-7	breast:
22	chr1:121484917..121485418-chr10:42529872..42530372,2	MCF-7	breast:
23	chr10:42530231..42530737-chr16:29006682..29007182,2	MCF-7	breast:
24	chr10:42528106..42531063-chr19:27736683..27739174,2	K562	blood:
25	chr1:121484248..121485086-chr10:42528519..42529041,2	MCF-7	breast:
26	chr10:42398850..42399800-chr10:42529302..42530219,2	MCF-7	breast:
27	chr10:42528736..42531443-chr2:73087371..73089045,2	MCF-7	breast:
28	chr1:121484711..121485401-chr10:42532112..42532774,3	MCF-7	breast:
29	chr1:121484705..121485362-chr10:42530459..42531081,4	MCF-7	breast:
30	chr10:42398850..42399487-chr10:42529302..42530228,2	MCF-7	breast:
31	chr1:121484520..121485419-chr10:42530561..42531081,2	K562	blood:
32	chr10:42531904..42532590-chr13:98148609..98149589,2	MCF-7	breast:
33	chr10:42527520..42529802-chr19:27732626..27735592,2	K562	blood:
34	chr10:42530906..42532591-chr12:125398363..125400597,2	MCF-7	breast:
35	chr1:121484906..121485408-chr10:42529869..42530392,2	MCF-7	breast:
36	chr1:121482838..121485428-chr10:42529461..42532722,10	K562	blood:
37	chr10:42527395..42527923-chr7:61968860..61969524,4	MCF-7	breast:
38	chr10:10531872..10532392-chr10:42529084..42529944,2	MCF-7	breast:
39	chr10:42528302..42530981-chr19:27731210..27733512,2	MCF-7	breast:
40	chr10:42528436..42531081-chr19:27736662..27739367,4	MCF-7	breast:
41	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
42	chr10:42399009..42399706-chr10:42529715..42530239,2	MCF-7	breast:
43	chr1:121484702..121485223-chr10:42530561..42531081,2	MCF-7	breast:
44	chr1:121482838..121485428-chr10:42528872..42531081,8	K562	blood:
45	chr10:42529302..42529920-chr19:27734982..27735519,2	MCF-7	breast:
46	chr1:121484509..121485410-chr10:42528540..42529041,2	MCF-7	breast:
47	chr10:42530427..42532590-chr8:46977725..46979226,2	MCF-7	breast:
48	chr10:42530126..42531081-chr19:27738662..27739344,3	MCF-7	breast:
49	chr1:121484862..121485397-chr10:42530581..42531081,2	MCF-7	breast:
50	chr1:121484490..121485429-chr10:42530455..42531081,6	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCNYL2-10	chr10:42498812-42498914	NONHSAT012851
2	lnc-CCNYL2-9	chr10:42596697-42596905	NONHSAT012853
3	lnc-BMS1-10	chr10:42529998-42530003	FPKM1_group_3228_transcript_1
4	lnc-BMS1-10	chr10:42529283-42529832	NONHSAT012852
5	lnc-BMS1-10	chr10:42529283-42529832	FPKM1_group_3228_transcript_1
6	lnc-CCNYL2-10	chr10:42501405-42501470	NONHSAT012851
7	lnc-CCNYL2-9	chr10:42598751-42598801	NONHSAT012853
8	lnc-BMS1-10	chr10:42529998-42530057	NONHSAT012852
9	lnc-CCNYL2-10	chr10:42506989-42507177	NONHSAT012851

No data

Variant related genes	Relation type
ENSG00000128908	chromatin interactions
ENSG00000162923	chromatin interactions
ENSG00000150991	chromatin interactions
ENSG00000143786	chromatin interactions
ENSG00000265345	chromatin interactions

Extended variants
information (count: 10675 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:10675 , 50 per page) page: 1 2 3 4 5 6 7 ... 214

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370785437	chr10:42492999-42493000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs561140706	chr10:42493033-42493034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs529972385	chr10:42493041-42493042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs550077737	chr10:42493042-42493043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs563609806	chr10:42493055-42493056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs532338222	chr10:42493061-42493062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs77108015	chr10:42493067-42493068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs565723922	chr10:42493068-42493069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs534430362	chr10:42493077-42493078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs548136094	chr10:42493078-42493079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs150824494	chr10:42493080-42493081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs114260879	chr10:42493083-42493084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs556427591	chr10:42493102-42493103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs75876199	chr10:42493103-42493104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs139276658	chr10:42493110-42493111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs571819734	chr10:42493111-42493112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs554538742	chr10:42493121-42493122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs558734043	chr10:42493132-42493133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs572467585	chr10:42493145-42493146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs574364696	chr10:42493148-42493149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs188558272	chr10:42493149-42493150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555072889	chr10:42493156-42493157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs536299222	chr10:42493166-42493167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs574726175	chr10:42493184-42493185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs543877870	chr10:42493189-42493190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs181323103	chr10:42493190-42493191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs555873934	chr10:42493218-42493219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs532453135	chr10:42493219-42493220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs538916153	chr10:42493230-42493231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs545981141	chr10:42493240-42493241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs559302513	chr10:42493248-42493249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs576094612	chr10:42493249-42493250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs145350194	chr10:42493269-42493270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs77108194	chr10:42493285-42493286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs147685546	chr10:42493305-42493306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs71502182	chr10:42493351-42493352	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs11266016	chr10:42493360-42493361	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs140830791	chr10:42493361-42493362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs559086273	chr10:42493362-42493363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs566114230	chr10:42493397-42493398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs144806183	chr10:42493412-42493413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs75828721	chr10:42493428-42493429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs1949709	chr10:42493433-42493434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs78621822	chr10:42493440-42493441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs185817942	chr10:42493480-42493481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs543835082	chr10:42493500-42493501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs571945539	chr10:42493507-42493508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs149006007	chr10:42493510-42493511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs577193241	chr10:42493516-42493517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs190633760	chr10:42493528-42493529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	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
Obesity	20622171	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20531469	CNVD

Chromatin state (count:1323 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42491200-42498800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:42493800-42495400	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr10:42497400-42499200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr10:42499400-42501800	ZNF genes & repeats	Liver	Liver
5	chr10:42501600-42503000	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr10:42502400-42523600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:42504000-42506200	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr10:42505800-42509200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr10:42506000-42509200	ZNF genes & repeats	Liver	Liver
10	chr10:42506200-42508600	ZNF genes & repeats	Psoas Muscle	Psoas
11	chr10:42509600-42509800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr10:42509800-42513800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr10:42510200-42510600	ZNF genes & repeats	Liver	Liver
14	chr10:42513200-42513600	Active TSS	Fetal Heart	heart
15	chr10:42519000-42519400	Active TSS	Right Atrium	heart
16	chr10:42519400-42520400	Weak transcription	Right Atrium	heart
17	chr10:42519600-42521600	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr10:42519800-42520000	ZNF genes & repeats	Psoas Muscle	Psoas
19	chr10:42520400-42520800	Active TSS	Right Atrium	heart
20	chr10:42520800-42525800	Weak transcription	Right Atrium	heart
21	chr10:42523000-42523200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
22	chr10:42523200-42525800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr10:42525400-42526200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr10:42525400-42533200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr10:42525600-42526200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr10:42525600-42526200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:42525600-42526200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr10:42525600-42526200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr10:42525600-42526200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:42525600-42526200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
31	chr10:42525600-42526200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
32	chr10:42525600-42526200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr10:42525600-42526200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:42525600-42526200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr10:42525600-42526200	ZNF genes & repeats	Fetal Brain Male	brain
36	chr10:42525600-42526200	ZNF genes & repeats	Fetal Lung	lung
37	chr10:42525600-42526200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
38	chr10:42525600-42526200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
39	chr10:42525600-42526200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
40	chr10:42525800-42526000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:42525800-42526000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr10:42525800-42526000	Active TSS	NHLF	lung
43	chr10:42525800-42526200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
44	chr10:42525800-42526200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
45	chr10:42525800-42526200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:42525800-42526200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
47	chr10:42525800-42526200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr10:42525800-42526200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
49	chr10:42525800-42526200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr10:42525800-42526200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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