Variant report

Variant	nsv1000947
Chromosome Location	chr4:106651153-106701679
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:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:106663731..106666450-chr4:106674204..106677147,3	K562	blood:
2	chr16:84493711..84494388-chr4:106676943..106677770,2	NB4	blood:
3	chr4:106683001..106684597-chr4:106687695..106689266,2	K562	blood:
4	chr4:106663731..106666450-chr4:106674204..106676681,2	K562	blood:
5	chr4:106663731..106666450-chr4:106674204..106676681,2	K562	blood:
6	chr4:106663731..106666450-chr4:106674204..106677147,3	K562	blood:
7	chr4:106646087..106647814-chr4:106648864..106651165,2	K562	blood:
8	chr4:106683001..106684597-chr4:106687695..106689266,2	K562	blood:
9	chr4:106621294..106623165-chr4:106674100..106676724,2	K562	blood:
10	chr4:106700749..106702842-chr4:106706206..106708472,2	K562	blood:
11	chr4:106632797..106635394-chr4:106700373..106702520,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBCK-3	chr4:106674408-106674458	ENSG00000251175.1
2	lnc-TBCK-3	chr4:106667402-106667580	ENSG00000251175.1

No data

Variant related genes	Relation type
ENSG00000064270	chromatin interactions

Extended variants
information (count: 1698 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1698 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372801288	chr4:106651168-106651169	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547659964	chr4:106651190-106651191	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570399026	chr4:106651201-106651202	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147812152	chr4:106651226-106651227	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556000667	chr4:106651243-106651244	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11737741	chr4:106651251-106651252	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186500986	chr4:106651252-106651253	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556032772	chr4:106651277-106651278	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572669726	chr4:106651279-106651280	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541409821	chr4:106651302-106651303	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190323972	chr4:106651314-106651315	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577965088	chr4:106651316-106651317	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543764100	chr4:106651336-106651337	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74453140	chr4:106651337-106651338	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147001097	chr4:106651348-106651349	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529374010	chr4:106651352-106651353	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370142710	chr4:106651363-106651364	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549048632	chr4:106651413-106651414	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561587064	chr4:106651442-106651443	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527478449	chr4:106651456-106651457	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547384868	chr4:106651460-106651461	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570691906	chr4:106651470-106651471	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539085847	chr4:106651479-106651480	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530088021	chr4:106651488-106651489	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549777191	chr4:106651500-106651501	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569655965	chr4:106651521-106651522	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535587147	chr4:106651550-106651551	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555502234	chr4:106651552-106651553	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572682895	chr4:106651637-106651638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182498587	chr4:106651702-106651703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548519538	chr4:106651726-106651727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578173929	chr4:106651787-106651788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543734129	chr4:106651812-106651813	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs570265285	chr4:106651816-106651817	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs7681455	chr4:106651829-106651830	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7681623	chr4:106651841-106651842	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs185339951	chr4:106651848-106651849	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs559374175	chr4:106651897-106651898	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs527510387	chr4:106651930-106651931	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs150189636	chr4:106651953-106651954	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs564106047	chr4:106651960-106651961	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs151200090	chr4:106651963-106651964	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs550091566	chr4:106651979-106651980	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs569718722	chr4:106652000-106652001	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs528849432	chr4:106652003-106652004	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs549107048	chr4:106652027-106652028	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs189807586	chr4:106652053-106652054	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs184084567	chr4:106652073-106652074	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs141995279	chr4:106652108-106652109	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs571732202	chr4:106652131-106652132	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

Chromatin state (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106630600-106656200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:106630600-106656200	Weak transcription	Esophagus	oesophagus
3	chr4:106630800-106656000	Weak transcription	Ovary	ovary
4	chr4:106630800-106656200	Weak transcription	Left Ventricle	heart
5	chr4:106630800-106656200	Weak transcription	Thymus	Thymus
6	chr4:106630800-106658400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:106631000-106654600	Weak transcription	Fetal Intestine Large	intestine
8	chr4:106631000-106656000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:106631000-106656200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:106631000-106658200	Weak transcription	Right Ventricle	heart
11	chr4:106631000-106659000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:106631000-106663000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:106631000-106669400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:106631200-106651800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:106631400-106656000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr4:106631400-106658800	Weak transcription	A549	lung
17	chr4:106634000-106655800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:106634000-106655800	Weak transcription	Liver	Liver
19	chr4:106634000-106693200	Weak transcription	K562	blood
20	chr4:106634600-106656200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:106635600-106651200	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:106635600-106651600	Weak transcription	NHLF	lung
23	chr4:106635600-106655600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr4:106635600-106656200	Weak transcription	Aorta	Aorta
25	chr4:106635600-106656200	Weak transcription	Brain Anterior Caudate	brain
26	chr4:106635600-106656800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:106635600-106658400	Weak transcription	Osteobl	bone
28	chr4:106635600-106665000	Weak transcription	HUVEC	blood vessel
29	chr4:106635600-106669800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr4:106636200-106658800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:106636400-106651600	Weak transcription	HMEC	breast
32	chr4:106636400-106651600	Weak transcription	NHDF-Ad	bronchial
33	chr4:106636400-106653200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:106636400-106656800	Weak transcription	NHEK	skin
35	chr4:106637200-106660800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:106637800-106656200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:106640800-106656000	Weak transcription	Fetal Stomach	stomach
38	chr4:106640800-106656200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr4:106641000-106651800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:106641000-106653400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr4:106641000-106656000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr4:106641400-106653000	Weak transcription	Placenta	Placenta
43	chr4:106641400-106656600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr4:106641600-106654600	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:106642000-106656400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:106643000-106662600	Weak transcription	Fetal Kidney	kidney
47	chr4:106645400-106658800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr4:106646200-106651400	Strong transcription	Dnd41	blood
49	chr4:106646800-106656200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:106647000-106651400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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