Variant report

Variant	nsv967811
Chromosome Location	chr4:166200966-166207736
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:166206074-166206102	Kidney_OC	kidney:	n/a	n/a
2	HEY1	chr4:166200616-166200970	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:166205043-166205192	MCF-7	breast:	n/a	n/a
4	POLR2A	chr4:166207020-166207072	Gliobla	brain:	n/a	n/a
5	RXRA	chr4:166203954-166204165	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:166201661-166201711	NH-A	brain:	n/a
2	chr4:166201051-166201101	NHDF-neo	bronchial:	n/a
3	chr4:166201051-166201101	LNCaP	prostate:	n/a
4	chr4:166201051-166201101	NT2-D1	testis:	n/a
5	chr4:166201661-166201711	U87	brain:	n/a
6	chr4:166201661-166201711	HCT-116	colon:	n/a
7	chr4:166201051-166201101	HMEC	breast:	n/a
8	chr4:166201051-166201101	AG04450	lung:	fetal
9	chr4:166201661-166201711	BJ	skin:	n/a
10	chr4:166201051-166201101	CMK	blood:	n/a
11	chr4:166201661-166201711	Jurkat	blood:	n/a
12	chr4:166201661-166201711	HAEpiC	amniotic membrane:	n/a
13	chr4:166201051-166201101	Hela-S3	cervix:	n/a
14	chr4:166201051-166201101	HEEpiC	esophagus:	n/a
15	chr4:166201661-166201711	IMR90	lung:	fetal
16	chr4:166201051-166201101	AoSMC	blood vessel:	n/a
17	chr4:166201051-166201101	HRE	kidney:	n/a
18	chr4:166201051-166201101	HRCEpiC	kidney:	n/a
19	chr4:166201051-166201101	A549	lung:	n/a
20	chr4:166201051-166201101	NB4	blood:	n/a
21	chr4:166201051-166201101	RPTEC	kidney:	n/a
22	chr4:166201051-166201101	GM12878	blood:	n/a
23	chr4:166201661-166201711	AG09309	skin:	n/a
24	chr4:166201661-166201711	HepG2	liver:	n/a
25	chr4:166201051-166201101	SAEC	small airway:	n/a
26	chr4:166201661-166201711	Hepatocyte	liver:	n/a
27	chr4:166201051-166201101	SK-N-MC	brain:	n/a
28	chr4:166201051-166201101	HIPEpiC	eye:	n/a
29	chr4:166201661-166201711	PANC-1	pancreas:	n/a
30	chr4:166201051-166201101	SKMC	muscle:	n/a
31	chr4:166201051-166201101	HEK293	kidney:	embryo
32	chr4:166201661-166201711	AG04450	lung:	fetal
33	chr4:166201661-166201711	ovcar-3	ovarian:	n/a
34	chr4:166201661-166201711	GM06990	blood:	n/a
35	chr4:166201661-166201711	CMK	blood:	n/a
36	chr4:166201661-166201711	Hela-S3	cervix:	n/a
37	chr4:166201661-166201711	RPTEC	kidney:	n/a
38	chr4:166201661-166201711	SK-N-SH	brain:	n/a
39	chr4:166201051-166201101	AG09309	skin:	n/a
40	chr4:166201051-166201101	GM12891	blood:	n/a
41	chr4:166201661-166201711	HIPEpiC	eye:	n/a
42	chr4:166201051-166201101	HNPCEpiC	eye:	n/a
43	chr4:166201051-166201101	Caco-2	colon:	n/a
44	chr4:166201661-166201711	H1-hESC	embryonic stem cell:	embryo
45	chr4:166201661-166201711	AoSMC	blood vessel:	n/a
46	chr4:166201661-166201711	NT2-D1	testis:	n/a
47	chr4:166201051-166201101	Hepatocyte	liver:	n/a
48	chr4:166201051-166201101	HPAEpiC	pulmonary alveolar:	n/a
49	chr4:166201661-166201711	HEEpiC	esophagus:	n/a
50	chr4:166201051-166201101	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:166206637..166209635-chr4:166235769..166238670,2	K562	blood:

No data

Variant related genes	Relation type
GK3P	TF binding region
GK3P	CpG island

Extended variants
information (count: 239 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143342881	chr4:166201005-166201006	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs570919454	chr4:166201028-166201029	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs12509117	chr4:166201122-166201123	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs563184319	chr4:166201152-166201153	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs575602084	chr4:166201180-166201181	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs181903770	chr4:166201239-166201240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564392866	chr4:166201259-166201260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552382588	chr4:166201296-166201297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62353291	chr4:166201306-166201307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556476832	chr4:166201336-166201337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576321008	chr4:166201341-166201342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528260147	chr4:166201365-166201366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546487201	chr4:166201488-166201489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186990138	chr4:166201517-166201518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10023176	chr4:166201551-166201552	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191908105	chr4:166201560-166201561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183298507	chr4:166201573-166201574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368346688	chr4:166201586-166201587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539720350	chr4:166201589-166201590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188346935	chr4:166201620-166201621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566841852	chr4:166201661-166201662	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs140637246	chr4:166201717-166201718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528353716	chr4:166201772-166201773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534364085	chr4:166201841-166201842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150477290	chr4:166201902-166201903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568144912	chr4:166201947-166201948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190011897	chr4:166202008-166202009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182302421	chr4:166202018-166202019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575341866	chr4:166202078-166202079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28626606	chr4:166202085-166202086	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs111633119	chr4:166202117-166202118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34380832	chr4:166202143-166202144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558043452	chr4:166202165-166202166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573177437	chr4:166202217-166202218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540420099	chr4:166202244-166202245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111368730	chr4:166202271-166202272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574485676	chr4:166202318-166202319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370406385	chr4:166202336-166202337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561771104	chr4:166202342-166202343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147235115	chr4:166202360-166202361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139147774	chr4:166202363-166202364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186618149	chr4:166202370-166202371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547414565	chr4:166202446-166202447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533123814	chr4:166202453-166202454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554085206	chr4:166202461-166202462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370907639	chr4:166202462-166202463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386402153	chr4:166202473-166202474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377050148	chr4:166202474-166202475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200221807	chr4:166202475-166202476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551373037	chr4:166202498-166202499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166144600-166218800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:166170000-166210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:166170600-166209600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:166177200-166218800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:166177400-166201200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:166177400-166201600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr4:166177400-166204200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:166177400-166209200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:166177400-166215200	Weak transcription	Fetal Stomach	stomach
10	chr4:166177400-166216000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:166177400-166218600	Weak transcription	Spleen	Spleen
12	chr4:166177400-166219000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:166177800-166205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:166178400-166205600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:166178800-166207600	Weak transcription	Primary B cells from cord blood	blood
16	chr4:166178800-166209200	Weak transcription	Brain Substantia Nigra	brain
17	chr4:166178800-166209400	Weak transcription	Brain Anterior Caudate	brain
18	chr4:166178800-166218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:166178800-166218800	Weak transcription	Esophagus	oesophagus
20	chr4:166181200-166204600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:166181200-166208200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:166182200-166207000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:166182800-166207800	Weak transcription	Primary T cells from cord blood	blood
24	chr4:166183600-166209200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:166183800-166207000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:166183800-166209600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:166183800-166215200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr4:166183800-166218800	Weak transcription	Aorta	Aorta
29	chr4:166184200-166202400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr4:166189800-166205000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:166191400-166209200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:166192600-166207000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr4:166192800-166223000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:166193200-166209200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:166193200-166209200	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:166193200-166209400	Weak transcription	NHEK	skin
37	chr4:166194800-166204600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:166194800-166204600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:166195000-166204600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:166195000-166204600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:166195000-166210000	Weak transcription	Dnd41	blood
42	chr4:166195000-166215800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:166195600-166203600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:166195600-166209400	Weak transcription	Adipose Nuclei	Adipose
45	chr4:166196200-166204600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:166196200-166215800	Weak transcription	Left Ventricle	heart
47	chr4:166196200-166217600	Weak transcription	Gastric	stomach
48	chr4:166196600-166209800	Weak transcription	NH-A	brain
49	chr4:166197400-166210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:166197600-166209200	Weak transcription	Muscle Satellite Cultured Cells	--

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