Variant report

Variant	nsv967810
Chromosome Location	chr4:166198496-166200966
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:166198728-166198803	Lung_OC	lung:	n/a	n/a
2	HEY1	chr4:166200616-166200970	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:166200749-166200798	ProgFib	skin:	n/a	n/a
4	POLR2A	chr4:166200692-166200852	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr4:166200714-166200916	GM12878	blood:	n/a	n/a
6	POLR2A	chr4:166200773-166200799	Gliobla	brain:	n/a	n/a
7	POLR2A	chr4:166200711-166200879	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:166200673-166200832	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr4:166200713-166200830	HepG2	liver:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:166199354-166199404	GM12892	blood:	n/a
2	chr4:166199354-166199404	GM12892	blood:	n/a
3	chr4:166199412-166199462	IMR90	lung:	fetal
4	chr4:166199412-166199462	HRE	kidney:	n/a
5	chr4:166200821-166200871	BE2_C	brain:	n/a
6	chr4:166199412-166199462	H1-hESC	embryonic stem cell:	embryo
7	chr4:166199354-166199404	PrEC	prostate:	n/a
8	chr4:166199354-166199404	HCPEpiC	choroid plexus:	n/a
9	chr4:166200821-166200871	ovcar-3	ovarian:	n/a
10	chr4:166200821-166200871	AG04450	lung:	fetal
11	chr4:166199354-166199404	LNCaP	prostate:	n/a
12	chr4:166200821-166200871	ECC-1	luminal epithelium:	n/a
13	chr4:166200821-166200871	HNPCEpiC	eye:	n/a
14	chr4:166199354-166199404	SAEC	small airway:	n/a
15	chr4:166199354-166199404	HRCEpiC	kidney:	n/a
16	chr4:166199354-166199404	HPAEpiC	pulmonary alveolar:	n/a
17	chr4:166199354-166199404	RPTEC	kidney:	n/a
18	chr4:166200821-166200871	NT2-D1	testis:	n/a
19	chr4:166200821-166200871	GM19239	blood:	n/a
20	chr4:166200821-166200871	GM12891	blood:	n/a
21	chr4:166199412-166199462	NB4	blood:	n/a
22	chr4:166199354-166199404	Caco-2	colon:	n/a
23	chr4:166199354-166199404	HL-60	blood:	n/a
24	chr4:166199412-166199462	HEEpiC	esophagus:	n/a
25	chr4:166199354-166199404	PFSK-1	brain:	n/a
26	chr4:166200821-166200871	AoSMC	blood vessel:	n/a
27	chr4:166200821-166200871	HPAEpiC	pulmonary alveolar:	n/a
28	chr4:166199412-166199462	AG09319	gingival:	n/a
29	chr4:166199412-166199462	AG04449	skin:	fetal
30	chr4:166200821-166200871	A549	lung:	n/a
31	chr4:166200821-166200871	CMK	blood:	n/a
32	chr4:166199412-166199462	HRCEpiC	kidney:	n/a
33	chr4:166199354-166199404	IMR90	lung:	fetal
34	chr4:166199412-166199462	LNCaP	prostate:	n/a
35	chr4:166200821-166200871	SKMC	muscle:	n/a
36	chr4:166199354-166199404	GM06990	blood:	n/a
37	chr4:166199354-166199404	HEK293	kidney:	embryo
38	chr4:166200821-166200871	NH-A	brain:	n/a
39	chr4:166199412-166199462	SKMC	muscle:	n/a
40	chr4:166199412-166199462	T-47D	breast:	n/a
41	chr4:166199412-166199462	HNPCEpiC	eye:	n/a
42	chr4:166199412-166199462	HRPEpiC	eye:	n/a
43	chr4:166199412-166199462	HepG2	liver:	n/a
44	chr4:166199412-166199462	GM12891	blood:	n/a
45	chr4:166199354-166199404	BJ	skin:	n/a
46	chr4:166199412-166199462	SK-N-MC	brain:	n/a
47	chr4:166200821-166200871	HCF	heart:	n/a
48	chr4:166199354-166199404	GM12878	blood:	n/a
49	chr4:166199354-166199404	CMK	blood:	n/a
50	chr4:166199412-166199462	PrEC	prostate:	n/a

No data

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

Extended variants
information (count: 102 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192421698	chr4:166198521-166198522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553278812	chr4:166198593-166198594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577605152	chr4:166198625-166198626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6853219	chr4:166198639-166198640	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs185323935	chr4:166198672-166198673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114923764	chr4:166198735-166198736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548781091	chr4:166198761-166198762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560781970	chr4:166198772-166198773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574925876	chr4:166198786-166198787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531440905	chr4:166198807-166198808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190220318	chr4:166198808-166198809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570943538	chr4:166198840-166198841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199778313	chr4:166198846-166198847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367861380	chr4:166198896-166198897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370662927	chr4:166198900-166198901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373427306	chr4:166198901-166198902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200953107	chr4:166198902-166198903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56378958	chr4:166198929-166198930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547844550	chr4:166198933-166198934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56079802	chr4:166198935-166198936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543791863	chr4:166198950-166198951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538522410	chr4:166198960-166198961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547261376	chr4:166199009-166199010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201785713	chr4:166199032-166199033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565653257	chr4:166199052-166199053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536017327	chr4:166199057-166199058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554748947	chr4:166199058-166199059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576454159	chr4:166199106-166199107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148504057	chr4:166199146-166199147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558978351	chr4:166199151-166199152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577340850	chr4:166199165-166199166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541461250	chr4:166199173-166199174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560054729	chr4:166199196-166199197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575086691	chr4:166199224-166199225	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9993842	chr4:166199250-166199251	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs563954861	chr4:166199262-166199263	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531289342	chr4:166199264-166199265	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181488455	chr4:166199325-166199326	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564660098	chr4:166199341-166199342	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55806488	chr4:166199345-166199346	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs369735425	chr4:166199357-166199358	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10016586	chr4:166199390-166199391	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs565588616	chr4:166199412-166199413	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530048981	chr4:166199413-166199414	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548069835	chr4:166199442-166199443	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376652499	chr4:166199450-166199451	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559069251	chr4:166199453-166199454	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570975637	chr4:166199523-166199524	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534976903	chr4:166199560-166199561	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532463667	chr4:166199584-166199585	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166130600-166200800	Weak transcription	Lung	lung
2	chr4:166144600-166218800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:166156200-166199200	Weak transcription	Ovary	ovary
4	chr4:166170000-166210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:166170600-166209600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:166177200-166218800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:166177400-166199200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:166177400-166201200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:166177400-166201600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:166177400-166204200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:166177400-166209200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:166177400-166215200	Weak transcription	Fetal Stomach	stomach
13	chr4:166177400-166216000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:166177400-166218600	Weak transcription	Spleen	Spleen
15	chr4:166177400-166219000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:166177800-166205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:166178400-166205600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:166178800-166200600	Weak transcription	Fetal Intestine Large	intestine
19	chr4:166178800-166207600	Weak transcription	Primary B cells from cord blood	blood
20	chr4:166178800-166209200	Weak transcription	Brain Substantia Nigra	brain
21	chr4:166178800-166209400	Weak transcription	Brain Anterior Caudate	brain
22	chr4:166178800-166218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:166178800-166218800	Weak transcription	Esophagus	oesophagus
24	chr4:166181200-166199200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:166181200-166204600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:166181200-166208200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:166182200-166207000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr4:166182800-166207800	Weak transcription	Primary T cells from cord blood	blood
29	chr4:166183600-166209200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:166183800-166207000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr4:166183800-166209600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:166183800-166215200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr4:166183800-166218800	Weak transcription	Aorta	Aorta
34	chr4:166184200-166202400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr4:166184800-166200600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:166185600-166198800	Weak transcription	Liver	Liver
37	chr4:166189000-166200800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:166189800-166205000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:166191400-166209200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:166192000-166198600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr4:166192600-166207000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr4:166192800-166223000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr4:166193200-166209200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr4:166193200-166209200	Weak transcription	Brain Hippocampus Middle	brain
45	chr4:166193200-166209400	Weak transcription	NHEK	skin
46	chr4:166194600-166199000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr4:166194800-166204600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:166194800-166204600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:166195000-166204600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:166195000-166204600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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