Variant report

Variant	nsv879700
Chromosome Location	chr4:106643445-106745057
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:30)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:106737915..106740578-chr4:106745473..106748457,2	K562	blood:
2	chr4:106726516..106728538-chr4:106730107..106732078,2	K562	blood:
3	chr4:106683001..106684597-chr4:106687695..106689266,2	K562	blood:
4	chr4:106663731..106666450-chr4:106674204..106677147,3	K562	blood:
5	chr4:106727565..106731527-chr4:106732555..106735399,4	K562	blood:
6	chr4:106727565..106729964-chr4:106733193..106735167,2	K562	blood:
7	chr4:106727565..106729964-chr4:106733193..106735167,2	K562	blood:
8	chr4:106639734..106642642-chr4:106644005..106646178,2	MCF-7	breast:
9	chr4:106707269..106709728-chr4:106711116..106713175,2	MCF-7	breast:
10	chr4:106716229..106719180-chr4:106725111..106727135,2	MCF-7	breast:
11	chr4:106726516..106728538-chr4:106730107..106732078,2	K562	blood:
12	chr4:106663731..106666450-chr4:106674204..106677147,3	K562	blood:
13	chr4:106727565..106731527-chr4:106732555..106735399,4	K562	blood:
14	chr4:106637736..106640243-chr4:106646399..106648948,2	K562	blood:
15	chr4:106716229..106719180-chr4:106725111..106727135,2	MCF-7	breast:
16	chr4:106700749..106702842-chr4:106706206..106708472,2	K562	blood:
17	chr4:106635589..106638418-chr4:106642806..106645316,2	K562	blood:
18	chr4:106726178..106728483-chr4:106755160..106757893,2	K562	blood:
19	chr4:106733432..106736096-chr4:106745724..106747603,2	K562	blood:
20	chr16:84493711..84494388-chr4:106676943..106677770,2	NB4	blood:
21	chr4:106700749..106702842-chr4:106706206..106708472,2	K562	blood:
22	chr4:106683001..106684597-chr4:106687695..106689266,2	K562	blood:
23	chr4:106646087..106647814-chr4:106648864..106651165,2	K562	blood:
24	chr4:106707269..106709728-chr4:106711116..106713175,2	MCF-7	breast:
25	chr4:106663731..106666450-chr4:106674204..106676681,2	K562	blood:
26	chr4:106646087..106647814-chr4:106648864..106651165,2	K562	blood:
27	chr4:106621294..106623165-chr4:106674100..106676724,2	K562	blood:
28	chr4:106663731..106666450-chr4:106674204..106676681,2	K562	blood:
29	chr4:106632797..106635394-chr4:106700373..106702520,2	K562	blood:
30	chr4:106637256..106639993-chr4:106642352..106643866,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBCK-3	chr4:106742216-106742351	ENSG00000251175.1
2	lnc-TBCK-3	chr4:106744532-106744594	ENSG00000251175.1
3	lnc-TBCK-3	chr4:106674408-106674458	ENSG00000251175.1
4	lnc-TBCK-3	chr4:106728341-106728439	ENSG00000251175.1
5	lnc-TBCK-3	chr4:106736302-106736468	ENSG00000251175.1
6	lnc-TBCK-3	chr4:106736307-106736468	ENSG00000251175.1
7	lnc-TBCK-3	chr4:106741699-106741758	ENSG00000251175.1
8	lnc-TBCK-3	chr4:106744532-106744594	ENSG00000251175.1
9	lnc-TBCK-3	chr4:106667402-106667580	ENSG00000251175.1
10	lnc-TBCK-3	chr4:106741699-106741758	ENSG00000251175.1

No data

Variant related genes	Relation type
ENSG00000064270	chromatin interactions
ENSG00000251175	chromatin interactions
ENSG00000138780	chromatin interactions

Extended variants
information (count: 3260 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:3260 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6820200	chr4:106643445-106643446	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568589792	chr4:106643542-106643543	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535918152	chr4:106643571-106643572	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192397819	chr4:106643655-106643656	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150963337	chr4:106643705-106643706	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185245022	chr4:106643755-106643756	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374009106	chr4:106643761-106643762	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs367852809	chr4:106643792-106643793	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs72671849	chr4:106643818-106643819	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539386494	chr4:106643822-106643823	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190045713	chr4:106643853-106643854	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192728643	chr4:106643897-106643898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535384876	chr4:106643902-106643903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555512775	chr4:106643906-106643907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200607856	chr4:106643930-106643931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572138936	chr4:106643957-106643958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140791848	chr4:106643994-106643995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558410825	chr4:106644017-106644018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371151109	chr4:106644122-106644123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543798192	chr4:106644144-106644145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184848867	chr4:106644163-106644164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573953913	chr4:106644178-106644179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543182236	chr4:106644236-106644237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542571491	chr4:106644252-106644253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559443456	chr4:106644253-106644254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147834402	chr4:106644324-106644325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564959984	chr4:106644414-106644415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551446553	chr4:106644416-106644417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377239905	chr4:106644429-106644430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201126028	chr4:106644450-106644451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564167327	chr4:106644514-106644515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533151739	chr4:106644527-106644528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549813393	chr4:106644528-106644529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553347827	chr4:106644546-106644547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141435978	chr4:106644557-106644558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535121892	chr4:106644593-106644594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548970156	chr4:106644631-106644632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147011224	chr4:106644681-106644682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189356424	chr4:106644700-106644701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180760407	chr4:106644707-106644708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578143811	chr4:106644772-106644773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111384771	chr4:106644785-106644786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35848825	chr4:106644811-106644812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6827293	chr4:106644869-106644870	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545450319	chr4:106644882-106644883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541027006	chr4:106644906-106644907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149566696	chr4:106644919-106644920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574239211	chr4:106644944-106644945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186411235	chr4:106645029-106645030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559356045	chr4:106645042-106645043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:716 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106630600-106650600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:106630600-106656200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:106630600-106656200	Weak transcription	Esophagus	oesophagus
4	chr4:106630800-106648000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr4:106630800-106649200	Weak transcription	Small Intestine	intestine
6	chr4:106630800-106656000	Weak transcription	Ovary	ovary
7	chr4:106630800-106656200	Weak transcription	Left Ventricle	heart
8	chr4:106630800-106656200	Weak transcription	Thymus	Thymus
9	chr4:106630800-106658400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:106631000-106648800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:106631000-106648800	Weak transcription	Brain Germinal Matrix	brain
12	chr4:106631000-106650600	Weak transcription	Fetal Brain Female	brain
13	chr4:106631000-106654600	Weak transcription	Fetal Intestine Large	intestine
14	chr4:106631000-106656000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:106631000-106656200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:106631000-106658200	Weak transcription	Right Ventricle	heart
17	chr4:106631000-106659000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:106631000-106663000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:106631000-106669400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:106631200-106651800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:106631400-106656000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr4:106631400-106658800	Weak transcription	A549	lung
23	chr4:106631600-106645400	Weak transcription	Fetal Brain Male	brain
24	chr4:106632000-106646400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:106632000-106648800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:106634000-106655800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:106634000-106655800	Weak transcription	Liver	Liver
28	chr4:106634000-106693200	Weak transcription	K562	blood
29	chr4:106634600-106656200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:106635600-106647400	Weak transcription	NH-A	brain
31	chr4:106635600-106651200	Weak transcription	Brain Hippocampus Middle	brain
32	chr4:106635600-106651600	Weak transcription	NHLF	lung
33	chr4:106635600-106655600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr4:106635600-106656200	Weak transcription	Aorta	Aorta
35	chr4:106635600-106656200	Weak transcription	Brain Anterior Caudate	brain
36	chr4:106635600-106656800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:106635600-106658400	Weak transcription	Osteobl	bone
38	chr4:106635600-106665000	Weak transcription	HUVEC	blood vessel
39	chr4:106635600-106669800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr4:106636200-106658800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:106636400-106647000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:106636400-106647200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:106636400-106650000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:106636400-106650600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr4:106636400-106651600	Weak transcription	HMEC	breast
46	chr4:106636400-106651600	Weak transcription	NHDF-Ad	bronchial
47	chr4:106636400-106653200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:106636400-106656800	Weak transcription	NHEK	skin
49	chr4:106637200-106648600	Weak transcription	Primary B cells from cord blood	blood
50	chr4:106637200-106660800	Weak transcription	Stomach Smooth Muscle	stomach

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