Variant report

Variant	nsv980261
Chromosome Location	chr4:144345363-144347263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:144346055-144346080	GM20000	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000243175	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557859611	chr4:144345373-144345374	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs528396330	chr4:144345378-144345379	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs572899936	chr4:144345448-144345449	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs200258610	chr4:144345484-144345485	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs150003880	chr4:144345546-144345547	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs62338565	chr4:144345556-144345557	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs145022400	chr4:144345579-144345580	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs34140972	chr4:144345659-144345660	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369285472	chr4:144345840-144345841	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs149089619	chr4:144345861-144345862	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs6811304	chr4:144345864-144345865	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533194317	chr4:144345876-144345877	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs551477454	chr4:144345895-144345896	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs532333764	chr4:144345969-144345970	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs575725402	chr4:144345981-144345982	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs6858550	chr4:144346018-144346019	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs527266184	chr4:144346069-144346070	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs548711758	chr4:144346093-144346094	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs141668706	chr4:144346115-144346116	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs397778222	chr4:144346124-144346125	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs568690004	chr4:144346134-144346135	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs140396631	chr4:144346139-144346140	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs557495169	chr4:144346159-144346160	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs117059492	chr4:144346162-144346163	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs186678283	chr4:144346190-144346191	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs55852984	chr4:144346193-144346194	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs557820960	chr4:144346216-144346217	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs573011244	chr4:144346251-144346252	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs191098205	chr4:144346263-144346264	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs555502836	chr4:144346264-144346265	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs573848108	chr4:144346276-144346277	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs35666321	chr4:144346278-144346279	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs145294438	chr4:144346303-144346304	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs562796953	chr4:144346325-144346326	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs536316883	chr4:144346338-144346339	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs376122711	chr4:144346359-144346360	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs577906855	chr4:144346390-144346391	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs183255772	chr4:144346403-144346404	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6842199	chr4:144346496-144346497	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs187533266	chr4:144346515-144346516	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs137872067	chr4:144346569-144346570	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560736051	chr4:144346578-144346579	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116746854	chr4:144346686-144346687	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192341721	chr4:144346694-144346695	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141702089	chr4:144346704-144346705	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6817754	chr4:144346708-144346709	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs551563896	chr4:144346709-144346710	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112467343	chr4:144346733-144346734	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72721086	chr4:144346745-144346746	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7659683	chr4:144346746-144346747	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144318200-144362400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:144327800-144361200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:144327800-144388200	Weak transcription	HepG2	liver
4	chr4:144328000-144346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:144328000-144359200	Weak transcription	Esophagus	oesophagus
6	chr4:144329000-144359400	Weak transcription	K562	blood
7	chr4:144329800-144352600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:144332400-144359200	Weak transcription	Pancreas	Pancrea
9	chr4:144332800-144359200	Weak transcription	HMEC	breast
10	chr4:144333000-144346200	Weak transcription	Ovary	ovary
11	chr4:144333000-144346400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:144333000-144358800	Weak transcription	Right Ventricle	heart
13	chr4:144333000-144364600	Weak transcription	NHEK	skin
14	chr4:144333200-144350600	Weak transcription	NHDF-Ad	bronchial
15	chr4:144333400-144346400	Weak transcription	Gastric	stomach
16	chr4:144333400-144350800	Weak transcription	Fetal Brain Male	brain
17	chr4:144333400-144359400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:144333400-144362400	Weak transcription	NH-A	brain
19	chr4:144333600-144347800	Weak transcription	Fetal Brain Female	brain
20	chr4:144333600-144359800	Weak transcription	HSMMtube	muscle
21	chr4:144333800-144348000	Weak transcription	Brain Germinal Matrix	brain
22	chr4:144333800-144348600	Weak transcription	Aorta	Aorta
23	chr4:144333800-144350600	Weak transcription	NHLF	lung
24	chr4:144334000-144359400	Weak transcription	HUVEC	blood vessel
25	chr4:144336400-144345400	Weak transcription	Osteobl	bone
26	chr4:144336400-144392200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:144337000-144350600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:144338200-144350400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:144338400-144346400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:144338600-144346200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:144338600-144359200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr4:144339200-144346400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr4:144339400-144345800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:144339400-144345800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:144339400-144345800	Weak transcription	Fetal Intestine Small	intestine
36	chr4:144339400-144346000	Weak transcription	Fetal Stomach	stomach
37	chr4:144339400-144346200	Weak transcription	Left Ventricle	heart
38	chr4:144339400-144346200	Weak transcription	Lung	lung
39	chr4:144339400-144346400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:144339400-144346400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:144339400-144348600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr4:144339400-144350400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:144339400-144350400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:144339400-144350800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:144339400-144394600	Weak transcription	Colonic Mucosa	Colon
46	chr4:144339600-144346200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr4:144339600-144346400	Weak transcription	Liver	Liver
48	chr4:144339600-144346400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr4:144339600-144346400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:144339600-144350400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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