Variant report

Variant	nsv999883
Chromosome Location	chr3:105687634-106007792
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:68)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:105904856..105907247-chr3:105909477..105911619,2	K562	blood:
2	chr3:105716890..105720340-chr3:105720990..105724271,4	K562	blood:
3	chr3:105837258..105844163-chr3:105844516..105850769,9	K562	blood:
4	chr3:105722394..105725041-chr3:105732379..105734444,2	MCF-7	breast:
5	chr3:105686379..105688152-chr3:105768039..105770644,2	MCF-7	breast:
6	chr3:105874261..105876624-chr3:105876895..105879680,3	MCF-7	breast:
7	chr3:105585054..105589067-chr3:105838770..105842022,5	MCF-7	breast:
8	chr3:105884642..105887122-chr3:105902947..105905518,2	MCF-7	breast:
9	chr3:105716218..105718448-chr3:105721913..105723438,2	MCF-7	breast:
10	chr3:105837258..105844163-chr3:105844516..105850769,9	K562	blood:
11	chr3:105843577..105846046-chr3:105847712..105849257,2	MCF-7	breast:
12	chr3:105961907..105964750-chr3:105965463..105968069,2	MCF-7	breast:
13	chr3:105993523..105995070-chr3:105995431..105997328,2	MCF-7	breast:
14	chr3:105879487..105881995-chr3:105889163..105891300,2	K562	blood:
15	chr3:105907275..105909533-chr3:105911519..105914134,2	K562	blood:
16	chr3:105961907..105964750-chr3:105965463..105968069,2	MCF-7	breast:
17	chr3:105837258..105840212-chr3:105844610..105846625,3	K562	blood:
18	chr3:105786379..105788670-chr3:105804052..105805702,2	MCF-7	breast:
19	chr3:105728355..105731343-chr3:105732922..105734488,2	K562	blood:
20	chr3:105884642..105887122-chr3:105902947..105905518,2	MCF-7	breast:
21	chr3:105674070..105677021-chr3:105686593..105689010,2	MCF-7	breast:
22	chr3:105801744..105803970-chr3:105851006..105853330,2	MCF-7	breast:
23	chr3:105716218..105718448-chr3:105721913..105723438,2	MCF-7	breast:
24	chr3:105928970..105930853-chr3:105939780..105941554,2	K562	blood:
25	chr3:105586588..105588865-chr3:105839319..105840956,2	MCF-7	breast:
26	chr3:105837962..105840051-chr3:105841738..105844397,2	K562	blood:
27	chr1:89482710..89483444-chr3:105891533..105892120,2	MCF-7	breast:
28	chr3:105404856..105405756-chr3:105840513..105841376,2	MCF-7	breast:
29	chr1:187672225..187673726-chr3:105922087..105923600,2	MCF-7	breast:
30	chr3:105603078..105603677-chr3:105774410..105775125,2	MCF-7	breast:
31	chr3:105837962..105840051-chr3:105841738..105844397,2	K562	blood:
32	chr3:105889901..105892774-chr3:105909285..105910974,2	MCF-7	breast:
33	chr3:105874261..105876624-chr3:105876895..105879680,3	MCF-7	breast:
34	chr3:106007014..106009895-chr3:106015805..106018090,2	MCF-7	breast:
35	chr3:105716890..105719921-chr3:105720990..105723304,3	K562	blood:
36	chr3:105586976..105590454-chr3:105834808..105837909,5	MCF-7	breast:
37	chr3:105928970..105930853-chr3:105939780..105941554,2	K562	blood:
38	chr3:105721294..105724222-chr3:105724712..105727610,2	K562	blood:
39	chr3:105843577..105846046-chr3:105847712..105849257,2	MCF-7	breast:
40	chr11:65271527..65272163-chr3:105919840..105920360,3	Hela-S3	cervix:
41	chr3:105907275..105909533-chr3:105911519..105914134,2	K562	blood:
42	chr3:105879487..105881995-chr3:105889163..105891300,2	K562	blood:
43	chr3:105774193..105776778-chr3:105779639..105782632,2	MCF-7	breast:
44	chr3:105904856..105907247-chr3:105909477..105911619,2	K562	blood:
45	chr3:105586184..105589670-chr3:105825578..105827891,3	MCF-7	breast:
46	chr3:105721294..105724222-chr3:105724712..105727610,2	K562	blood:
47	chr3:105694327..105696998-chr3:105697953..105700032,2	K562	blood:
48	chr3:105995923..105998660-chr3:106001692..106003580,2	MCF-7	breast:
49	chr3:105586120..105588295-chr3:105901968..105904553,2	MCF-7	breast:
50	chr3:105404868..105405453-chr3:105840594..105841272,3	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CBLB-9	chr3:105932989-105933176	NONHSAT090975
2	lnc-CBLB-9	chr3:105905672-105905957	NONHSAT090975
3	lnc-CBLB-9	chr3:105906068-105907371	NONHSAT090975
4	lnc-CBLB-8	chr3:105831384-105831421	NONHSAT090973
5	lnc-CBLB-9	chr3:105971875-105971915	NONHSAT090975
6	lnc-CBLB-10	chr3:105992408-105992737	NONHSAT090976
7	lnc-CBLB-9	chr3:105957478-105957597	NONHSAT090975
8	lnc-CBLB-9	chr3:105908037-105908255	NONHSAT090975
9	lnc-ALCAM-8	chr3:105897346-105897395	NONHSAT090974
10	lnc-CBLB-9	chr3:105927930-105927960	NONHSAT090975
11	lnc-CBLB-9	chr3:105922760-105922914	NONHSAT090975
12	lnc-ALCAM-8	chr3:105912567-105913564	NONHSAT090974
13	lnc-CBLB-8	chr3:105803221-105803816	NONHSAT090973

No data

Variant related genes	Relation type
ENSG00000114423	chromatin interactions

Extended variants
information (count: 10915 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:10915 , 50 per page) page: 1 2 3 4 5 6 7 ... 219

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16851846	chr3:105687634-105687635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2618335	chr3:105687650-105687651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540431024	chr3:105687676-105687677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386664251	chr3:105687704-105687705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2655047	chr3:105687709-105687710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs368373802	chr3:105687752-105687753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73190055	chr3:105687771-105687772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs73190057	chr3:105687792-105687793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535835237	chr3:105687796-105687797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555688832	chr3:105687830-105687831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538059034	chr3:105687832-105687833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372428034	chr3:105687834-105687835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573973786	chr3:105687876-105687877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144119128	chr3:105687908-105687909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185454837	chr3:105687925-105687926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190710423	chr3:105687945-105687946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545487124	chr3:105687958-105687959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116347570	chr3:105688007-105688008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560741060	chr3:105688031-105688032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2618334	chr3:105688032-105688033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs577873507	chr3:105688034-105688035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2655046	chr3:105688070-105688071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs62822060	chr3:105688133-105688134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34813455	chr3:105688134-105688135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397826857	chr3:105688136-105688137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180718403	chr3:105688153-105688154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367549650	chr3:105688159-105688160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549782628	chr3:105688160-105688161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571425227	chr3:105688164-105688165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141657137	chr3:105688172-105688173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528963958	chr3:105688188-105688189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565436021	chr3:105688201-105688202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150535036	chr3:105688220-105688221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573271451	chr3:105688228-105688229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200103466	chr3:105688298-105688299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13086242	chr3:105688299-105688300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77000876	chr3:105688300-105688301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554126930	chr3:105688306-105688307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs66767627	chr3:105688310-105688311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs66767628	chr3:105688311-105688312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59893826	chr3:105688314-105688315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538552084	chr3:105688320-105688321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186100699	chr3:105688322-105688323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143148952	chr3:105688345-105688346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545259859	chr3:105688357-105688358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529336801	chr3:105688358-105688359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572547579	chr3:105688382-105688383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3110593	chr3:105688393-105688394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs561289750	chr3:105688398-105688399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531563607	chr3:105688400-105688401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:1641 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105677600-105689400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:105684800-105689000	Weak transcription	Adipose Nuclei	Adipose
3	chr3:105685000-105689000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:105686200-105689000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:105686400-105689000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:105686400-105689000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:105686400-105689000	Weak transcription	HMEC	breast
8	chr3:105686600-105689200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:105686800-105688800	Weak transcription	Hela-S3	cervix
10	chr3:105686800-105689000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:105686800-105689000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:105688600-105689600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr3:105688800-105689600	Enhancers	Hela-S3	cervix
14	chr3:105689000-105689400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:105689000-105689400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:105689000-105689400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr3:105689000-105689600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:105689000-105689600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr3:105689000-105689600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:105689000-105689600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr3:105689000-105689600	Enhancers	Adipose Nuclei	Adipose
22	chr3:105689000-105689600	Enhancers	Liver	Liver
23	chr3:105689000-105689600	Enhancers	Placenta	Placenta
24	chr3:105689000-105689600	ZNF genes & repeats	Dnd41	blood
25	chr3:105689000-105689600	Enhancers	HMEC	breast
26	chr3:105689000-105689800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:105689000-105690000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:105689000-105690000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:105689200-105689400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:105689200-105689600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:105689400-105689800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:105689400-105690000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:105689600-105689800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:105689600-105689800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:105689800-105691600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:105689800-105691600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:105690600-105690800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:105690600-105691400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr3:105691600-105697400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:105691600-105715600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:105692400-105692600	Enhancers	Adipose Nuclei	Adipose
42	chr3:105693400-105693600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:105693600-105694800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:105694800-105695200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:105694800-105695200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:105694800-105695200	Enhancers	Fetal Lung	lung
47	chr3:105694800-105695600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:105694800-105696200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:105695000-105696000	Enhancers	Adipose Nuclei	Adipose
50	chr3:105695200-105695400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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