Variant report

Variant	nsv428579
Chromosome Location	chr11:104298339-104459797
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:14)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:104303852..104306640-chr11:104309286..104311599,3	K562	blood:
2	chr11:104377912..104380713-chr11:104411485..104413500,2	MCF-7	breast:
3	chr11:104303852..104306640-chr11:104309286..104311599,3	K562	blood:
4	chr11:104242893..104244741-chr11:104376136..104378191,2	K562	blood:
5	chr11:104318241..104320528-chr11:104331933..104333593,2	K562	blood:
6	chr11:104321181..104323172-chr11:104324922..104326441,2	K562	blood:
7	chr11:104321181..104323172-chr11:104324922..104326441,2	K562	blood:
8	chr11:104377912..104380713-chr11:104411485..104413500,2	MCF-7	breast:
9	chr11:104318241..104320528-chr11:104331933..104333593,2	K562	blood:
10	chr11:104380583..104383114-chr11:104384527..104386564,2	K562	blood:
11	chr11:104372355..104372989-chr5:37799043..37799937,2	MCF-7	breast:
12	chr11:104331867..104333415-chr11:104336822..104339133,2	K562	blood:
13	chr11:104331867..104333415-chr11:104336822..104339133,2	K562	blood:
14	chr11:104380583..104383114-chr11:104384527..104386564,2	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CASP12-1	chr11:104415604-104415877	ENSG00000256422
2	lnc-CASP12-1	chr11:104316596-104316740	ENSG00000256422
3	lnc-CASP12-1	chr11:104439776-104439859	ENSG00000256422
4	lnc-CASP12-1	chr11:104439221-104439649	NONHSAT023934
5	lnc-CASP12-1	chr11:104439776-104439859	XLOC_009538
6	lnc-CASP12-1	chr11:104439776-104439859	NONHSAT023935
7	lnc-CASP12-1	chr11:104382877-104382961	ENSG00000256422
8	lnc-CASP12-1	chr11:104439258-104439649	ENSG00000256422
9	lnc-CASP12-1	chr11:104439240-104439649	NONHSAT023935
10	lnc-CASP12-1	chr11:104442804-104443213	NONHSAT023935
11	lnc-CASP12-1	chr11:104439083-104439649	XLOC_009538
12	lnc-CASP12-1	chr11:104443285-104443325	XLOC_009538
13	lnc-CASP12-1	chr11:104415427-104415514	ENSG00000256422
14	lnc-CASP12-1	chr11:104439776-104439859	NONHSAT023934
15	lnc-CASP12-1	chr11:104410659-104410753	ENSG00000256422
16	lnc-CASP12-1	chr11:104415427-104415514	ENSG00000256422
17	lnc-CASP12-1	chr11:104443285-104443325	ENSG00000256422
18	lnc-CASP12-1	chr11:104415604-104415877	ENSG00000256422

No data

Extended variants
information (count: 4525 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:4525 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76082600	chr11:104302604-104302605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540617230	chr11:104302611-104302612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149210708	chr11:104302628-104302629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182848607	chr11:104302641-104302642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552230358	chr11:104302642-104302643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143382218	chr11:104302659-104302660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78414904	chr11:104302700-104302701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116057040	chr11:104302719-104302720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111444053	chr11:104302745-104302746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114715050	chr11:104302754-104302755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs36019220	chr11:104302763-104302764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35665475	chr11:104302770-104302771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35783581	chr11:104302834-104302835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72254100	chr11:104302835-104302836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533674414	chr11:104302841-104302842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs386374745	chr11:104302844-104302845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546966398	chr11:104302848-104302849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187391164	chr11:104302849-104302850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539308144	chr11:104302855-104302856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368396438	chr11:104302963-104302964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558993604	chr11:104302972-104302973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192187284	chr11:104302973-104302974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12791068	chr11:104302979-104302980	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7951031	chr11:104303010-104303011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs148359411	chr11:104303011-104303012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540779638	chr11:104303015-104303016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370554917	chr11:104303028-104303029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117019446	chr11:104303035-104303036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577178125	chr11:104303036-104303037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546032681	chr11:104303069-104303070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113915450	chr11:104303078-104303079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540798676	chr11:104303082-104303083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562664401	chr11:104303212-104303213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561024854	chr11:104303232-104303233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531498205	chr11:104303280-104303281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529856846	chr11:104303292-104303293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183101683	chr11:104303318-104303319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541608633	chr11:104303349-104303350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561574671	chr11:104303371-104303372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527381708	chr11:104303382-104303383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58283919	chr11:104303385-104303386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189395246	chr11:104303422-104303423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187396425	chr11:104303427-104303428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552464508	chr11:104303476-104303477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373412675	chr11:104303496-104303497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114826399	chr11:104303538-104303539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111833869	chr11:104303558-104303559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112558515	chr11:104303577-104303578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569435970	chr11:104303579-104303580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549538742	chr11:104303581-104303582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Tetralogy of Fallot	22912587	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104302600-104303000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr11:104302600-104303000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr11:104303000-104305200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:104303000-104305400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:104303400-104304000	Enhancers	Adipose Nuclei	Adipose
6	chr11:104303600-104306400	Enhancers	Fetal Heart	heart
7	chr11:104303800-104304000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr11:104304000-104304600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:104304600-104306400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr11:104305000-104306600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:104305200-104305800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:104305200-104306400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr11:104305200-104306600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:104305400-104305800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:104305400-104306000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr11:104305400-104306600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr11:104305600-104306400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:104305600-104306400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr11:104312600-104313200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:104312800-104313400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:104313200-104313400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:104313400-104314400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:104313800-104314400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:104314000-104315600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:104314200-104314600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr11:104314200-104314600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr11:104314200-104314600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr11:104314200-104314600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:104314200-104314600	Enhancers	Fetal Lung	lung
30	chr11:104314200-104316000	Enhancers	Fetal Heart	heart
31	chr11:104314400-104315600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr11:104314400-104315600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr11:104314600-104315600	Weak transcription	Fetal Lung	lung
34	chr11:104314600-104323200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:104315000-104316800	Enhancers	Stomach Mucosa	stomach
36	chr11:104315600-104315800	Enhancers	Fetal Lung	lung
37	chr11:104316000-104320200	Weak transcription	Fetal Heart	heart
38	chr11:104316800-104321400	Weak transcription	Stomach Mucosa	stomach
39	chr11:104319400-104320200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:104320200-104320600	Enhancers	Fetal Heart	heart
41	chr11:104320200-104322000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:104320600-104320800	Weak transcription	Fetal Heart	heart
43	chr11:104320800-104321800	Enhancers	Fetal Heart	heart
44	chr11:104321400-104322800	Enhancers	Stomach Mucosa	stomach
45	chr11:104321800-104322200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr11:104321800-104322200	Flanking Active TSS	Fetal Heart	heart
47	chr11:104322000-104322200	Enhancers	Aorta	Aorta
48	chr11:104322000-104322200	Enhancers	Ovary	ovary
49	chr11:104322000-104323200	Enhancers	NHEK	skin
50	chr11:104322000-104324000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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