Variant report

Variant	nsv540524
Chromosome Location	chr10:29242479-29378871
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:72)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr10:29314198..29317005-chr10:29318188..29321623,4	K562	blood:
2	chr10:29334833..29335789-chr10:29413714..29414352,2	MCF-7	breast:
3	chr10:28965572..28966697-chr10:29280400..29281296,8	K562	blood:
4	chr10:29333945..29336788-chr10:29342638..29344952,2	K562	blood:
5	chr10:29300078..29302252-chr10:29312556..29314108,2	MCF-7	breast:
6	chr10:29252530..29255789-chr10:29256293..29258456,3	K562	blood:
7	chr10:29262880..29265881-chr10:29266263..29268978,3	MCF-7	breast:
8	chr10:29253021..29255642-chr10:29258666..29260890,3	K562	blood:
9	chr10:28920568..28922967-chr10:29311502..29313031,2	MCF-7	breast:
10	chr10:29265451..29268579-chr10:29270329..29273559,3	K562	blood:
11	chr10:29303247..29304767-chr16:3930105..3932383,2	MCF-7	breast:
12	chr10:29214051..29214946-chr10:29363961..29364599,2	MCF-7	breast:
13	chr10:29338042..29340707-chr10:29391467..29393538,2	MCF-7	breast:
14	chr10:29246390..29248492-chr10:29256574..29258664,2	K562	blood:
15	chr10:29378212..29380304-chr10:29387385..29389641,2	MCF-7	breast:
16	chr10:29279625..29282236-chr10:29283754..29288089,3	MCF-7	breast:
17	chr10:29314198..29317005-chr10:29318188..29321623,4	K562	blood:
18	chr10:29312981..29315821-chr10:29317723..29320227,3	MCF-7	breast:
19	chr10:29328547..29330784-chr10:29354689..29356289,2	MCF-7	breast:
20	chr10:29262880..29265881-chr10:29266263..29268978,3	MCF-7	breast:
21	chr10:29233108..29235296-chr10:29275633..29277524,2	K562	blood:
22	chr10:29236808..29238551-chr10:29250503..29252839,2	MCF-7	breast:
23	chr10:29279625..29282236-chr10:29283754..29288089,3	MCF-7	breast:
24	chr10:29337228..29339224-chr10:29341493..29343615,2	K562	blood:
25	chr10:29008305..29011749-chr10:29242163..29245581,4	K562	blood:
26	chr10:29312981..29315821-chr10:29317723..29320227,3	MCF-7	breast:
27	chr10:29228163..29228761-chr10:29280408..29280941,2	MCF-7	breast:
28	chr10:29334881..29335737-chr10:29413910..29414617,2	MCF-7	breast:
29	chr10:29338276..29339227-chr10:29413644..29414613,4	MCF-7	breast:
30	chr10:28967389..28969524-chr10:29269845..29271564,2	K562	blood:
31	chr10:29252530..29255789-chr10:29256293..29258456,3	K562	blood:
32	chr10:28917184..28917695-chr10:29280434..29281283,2	K562	blood:
33	chr10:29253021..29255642-chr10:29258666..29260890,3	K562	blood:
34	chr10:29333945..29336788-chr10:29342638..29344952,2	K562	blood:
35	chr10:29263229..29266951-chr10:29269294..29271829,3	K562	blood:
36	chr10:28952466..28953354-chr10:29280417..29281268,8	K562	blood:
37	chr10:29300078..29302252-chr10:29312556..29314108,2	MCF-7	breast:
38	chr10:29248802..29251390-chr10:29260366..29262672,2	MCF-7	breast:
39	chr10:29265451..29268579-chr10:29270329..29273559,3	K562	blood:
40	chr10:28964054..28966368-chr10:29251513..29253442,2	K562	blood:
41	chr10:29364034..29364641-chr10:29393283..29394164,2	MCF-7	breast:
42	chr10:28966073..28966698-chr10:29353107..29353773,2	MCF-7	breast:
43	chr10:29312390..29314402-chr10:29318624..29321078,2	MCF-7	breast:
44	chr10:28952489..28953182-chr10:29280393..29280978,2	MCF-7	breast:
45	chr10:29086957..29087612-chr10:29280439..29281305,2	MCF-7	breast:
46	chr10:29328547..29330784-chr10:29354689..29356289,2	MCF-7	breast:
47	chr10:29263229..29266951-chr10:29269294..29271829,3	K562	blood:
48	chr10:29274382..29276658-chr10:29276748..29279547,2	MCF-7	breast:
49	chr10:29262546..29265241-chr10:29268681..29270190,2	MCF-7	breast:
50	chr10:29350875..29354297-chr10:29355076..29358298,3	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C10orf126-2	chr10:29264198-29264218	XLOC_008426
2	lnc-C10orf126-4	chr10:29304204-29304224	l_281_chr10:29257855-29304224_testes
3	lnc-C10orf126-4	chr10:29262571-29262724	l_281_chr10:29257855-29304224_testes
4	lnc-C10orf126-4	chr10:29257856-29257950	l_281_chr10:29257855-29304224_testes
5	lnc-C10orf126-4	chr10:29261837-29261933	l_281_chr10:29257855-29304224_testes

No data

Variant related genes	Relation type
ENSG00000095739	chromatin interactions
ENSG00000005339	chromatin interactions

Extended variants
information (count: 5814 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:5814 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115574396	chr10:29242497-29242498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75094362	chr10:29242507-29242508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530756434	chr10:29242540-29242541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553986370	chr10:29242554-29242555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184006216	chr10:29242581-29242582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573222970	chr10:29242629-29242630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117254026	chr10:29242634-29242635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550349817	chr10:29242667-29242668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555551452	chr10:29242683-29242684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530954389	chr10:29242693-29242694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188403965	chr10:29242720-29242721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1624345	chr10:29242724-29242725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs563390209	chr10:29242784-29242785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575168637	chr10:29242795-29242796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545791382	chr10:29242811-29242812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11349942	chr10:29242851-29242852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564039756	chr10:29242865-29242866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528409655	chr10:29242866-29242867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192754918	chr10:29242877-29242878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561735954	chr10:29242878-29242879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529080783	chr10:29242892-29242893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184222763	chr10:29242905-29242906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190771986	chr10:29242918-29242919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569318743	chr10:29242931-29242932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571563305	chr10:29242944-29242945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113367078	chr10:29242945-29242946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1691928	chr10:29243017-29243018	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs573757147	chr10:29243047-29243048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145535326	chr10:29243083-29243084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138166268	chr10:29243128-29243129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371461258	chr10:29243160-29243161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534226938	chr10:29243172-29243173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140759776	chr10:29243183-29243184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150089212	chr10:29243254-29243255	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182059585	chr10:29243279-29243280	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186292545	chr10:29243289-29243290	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575316926	chr10:29243348-29243349	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545878683	chr10:29243371-29243372	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564078462	chr10:29243501-29243502	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189112338	chr10:29243523-29243524	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540578639	chr10:29243528-29243529	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562007219	chr10:29243559-29243560	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572557178	chr10:29243560-29243561	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373438855	chr10:29243566-29243567	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529110710	chr10:29243599-29243600	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1691927	chr10:29243629-29243630	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562510562	chr10:29243653-29243654	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111827267	chr10:29243697-29243698	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138429456	chr10:29243727-29243728	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77579541	chr10:29243734-29243735	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	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
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:942 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:29236000-29248800	Weak transcription	Fetal Heart	heart
2	chr10:29237200-29243200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr10:29237600-29243000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr10:29239400-29243200	Weak transcription	HepG2	liver
5	chr10:29242400-29242600	Enhancers	Dnd41	blood
6	chr10:29242400-29243200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:29243000-29243400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:29243200-29243400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:29243200-29243600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:29243200-29243600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr10:29243200-29243600	Enhancers	HepG2	liver
12	chr10:29243400-29244000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:29243600-29243800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr10:29243800-29244000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:29244000-29244200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr10:29244200-29249000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:29248800-29249200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:29248800-29249200	Enhancers	Left Ventricle	heart
19	chr10:29248800-29249200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr10:29248800-29249400	Enhancers	NH-A	brain
21	chr10:29248800-29249600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:29248800-29249600	Enhancers	Fetal Heart	heart
23	chr10:29249000-29249400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr10:29249000-29249400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:29249000-29249400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:29249000-29249400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr10:29249600-29254400	Weak transcription	Fetal Heart	heart
28	chr10:29252400-29253200	Enhancers	HepG2	liver
29	chr10:29252600-29260400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr10:29253000-29253200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:29253000-29253400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr10:29253000-29253400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:29253200-29253400	ZNF genes & repeats	Aorta	Aorta
34	chr10:29253400-29254800	Weak transcription	Aorta	Aorta
35	chr10:29253800-29254600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr10:29253800-29254600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:29254400-29255200	Enhancers	Fetal Heart	heart
38	chr10:29254800-29255000	Enhancers	Aorta	Aorta
39	chr10:29254800-29255200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr10:29258800-29259000	Enhancers	Osteobl	bone
41	chr10:29258800-29259200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr10:29258800-29259800	Enhancers	NH-A	brain
43	chr10:29258800-29260000	Enhancers	HUVEC	blood vessel
44	chr10:29258800-29260800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr10:29259000-29259400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:29259000-29259400	Flanking Active TSS	Osteobl	bone
47	chr10:29259000-29259800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr10:29259000-29260000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:29259000-29261000	Enhancers	NHEK	skin
50	chr10:29259000-29261800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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