Variant report

Variant	esv3394238
Chromosome Location	chr4:132643202-132646800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:132643327-132643727	GM12878	blood:	n/a	n/a
2	CCNT2	chr4:132646067-132646366	K562	blood:	n/a	n/a
3	CHD2	chr4:132646065-132646272	Hela-S3	cervix:	n/a	n/a
4	CHD2	chr4:132646072-132646353	GM12878	blood:	n/a	n/a
5	E2F6	chr4:132646712-132646865	K562	blood:	n/a	n/a
6	ESR1	chr4:132646144-132646379	T-47D	breast:	n/a	n/a
7	HEY1	chr4:132646169-132646415	K562	blood:	n/a	n/a
8	HEY1	chr4:132646146-132646336	HepG2	liver:	n/a	n/a
9	JUND	chr4:132646170-132646446	A549	lung:	n/a	n/a
10	MAX	chr4:132646236-132646273	GM12878	blood:	n/a	n/a
11	MAX	chr4:132646753-132646855	K562	blood:	n/a	n/a
12	MAX	chr4:132646710-132646923	K562	blood:	n/a	n/a
13	MAX	chr4:132646229-132646270	Hela-S3	cervix:	n/a	n/a
14	MAZ	chr4:132646241-132646260	K562	blood:	n/a	n/a
15	MEF2A	chr4:132643353-132643641	GM12878	blood:	n/a	n/a
16	NFIC	chr4:132643244-132643633	GM12878	blood:	n/a	n/a
17	NRF1	chr4:132646069-132646270	H1-hESC	embryonic stem cell:	n/a	n/a
18	NRF1	chr4:132646152-132646327	SK-N-SH	brain:	n/a	n/a
19	NRF1	chr4:132646059-132646277	GM12878	blood:	n/a	n/a
20	POLR2A	chr4:132646079-132646362	K562	blood:	n/a	n/a
21	POLR2A	chr4:132646158-132646318	HCT-116	colon:	n/a	n/a
22	POLR2A	chr4:132646230-132646458	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr4:132646035-132646433	K562	blood:	n/a	n/a
24	POLR2A	chr4:132646074-132646435	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr4:132646177-132646426	MCF-7	breast:	n/a	n/a
26	POLR2A	chr4:132646194-132646311	A549	lung:	n/a	n/a
27	POLR2A	chr4:132646073-132646442	Raji	blood:	n/a	n/a
28	POLR2A	chr4:132646027-132646527	K562	blood:	n/a	n/a
29	POLR2A	chr4:132646169-132646321	GM12878	blood:	n/a	n/a
30	POLR2A	chr4:132646086-132646356	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr4:132646118-132646541	GM12892	blood:	n/a	n/a
32	POLR2A	chr4:132646183-132646335	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr4:132646077-132646438	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr4:132646102-132646468	SK-N-MC	brain:	n/a	n/a
35	POLR2A	chr4:132646180-132646358	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:132646116-132646448	A549	lung:	n/a	n/a
37	POLR2A	chr4:132646200-132646289	A549	lung:	n/a	n/a
38	POLR2A	chr4:132646197-132646293	HepG2	liver:	n/a	n/a
39	POLR2A	chr4:132646131-132646532	GM12878	blood:	n/a	n/a
40	POLR2A	chr4:132646112-132646399	HepG2	liver:	n/a	n/a
41	POLR2A	chr4:132646244-132646359	Gliobla	brain:	n/a	n/a
42	POLR2A	chr4:132646163-132646329	A549	lung:	n/a	n/a
43	POLR2A	chr4:132646152-132646317	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr4:132646169-132646311	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr4:132646237-132646372	MCF-7	breast:	n/a	n/a
46	POLR2A	chr4:132646235-132646437	GM12878	blood:	n/a	n/a
47	POLR2A	chr4:132646179-132646336	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr4:132646180-132646341	HepG2	liver:	n/a	n/a
49	POLR2A	chr4:132646233-132646409	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr4:132646221-132646287	GM12878	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:132646360-132646410	HAEpiC	amniotic membrane:	n/a
2	chr4:132646574-132646624	NB4	blood:	n/a
3	chr4:132646360-132646410	HL-60	blood:	n/a
4	chr4:132646574-132646624	U87	brain:	n/a
5	chr4:132646360-132646410	HCM	heart:	n/a
6	chr4:132645884-132645934	SK-N-SH_RA	brain:	n/a
7	chr4:132646360-132646410	T-47D	breast:	n/a
8	chr4:132643925-132643975	PrEC	prostate:	n/a
9	chr4:132645884-132645934	AoSMC	blood vessel:	n/a
10	chr4:132644348-132644398	HCPEpiC	choroid plexus:	n/a
11	chr4:132645884-132645934	AG04449	skin:	fetal
12	chr4:132646574-132646624	ProgFib	skin:	n/a
13	chr4:132645884-132645934	BJ	skin:	n/a
14	chr4:132646360-132646410	GM12878	blood:	n/a
15	chr4:132646574-132646624	HepG2	liver:	n/a
16	chr4:132644348-132644398	IMR90	lung:	fetal
17	chr4:132643925-132643975	AG04449	skin:	fetal
18	chr4:132643925-132643975	LNCaP	prostate:	n/a
19	chr4:132644348-132644398	Caco-2	colon:	n/a
20	chr4:132644348-132644398	SAEC	small airway:	n/a
21	chr4:132643925-132643975	HPAEpiC	pulmonary alveolar:	n/a
22	chr4:132643925-132643975	HNPCEpiC	eye:	n/a
23	chr4:132645884-132645934	GM12892	blood:	n/a
24	chr4:132644348-132644398	A549	lung:	n/a
25	chr4:132643925-132643975	SKMC	muscle:	n/a
26	chr4:132643925-132643975	CMK	blood:	n/a
27	chr4:132646360-132646410	AG09319	gingival:	n/a
28	chr4:132646574-132646624	HRCEpiC	kidney:	n/a
29	chr4:132646574-132646624	HAEpiC	amniotic membrane:	n/a
30	chr4:132646574-132646624	PANC-1	pancreas:	n/a
31	chr4:132646574-132646624	AG10803	skin:	n/a
32	chr4:132644348-132644398	NT2-D1	testis:	n/a
33	chr4:132646574-132646624	HCPEpiC	choroid plexus:	n/a
34	chr4:132645884-132645934	IMR90	lung:	fetal
35	chr4:132645884-132645934	PFSK-1	brain:	n/a
36	chr4:132646574-132646624	Hepatocyte	liver:	n/a
37	chr4:132643925-132643975	A549	lung:	n/a
38	chr4:132645884-132645934	SAEC	small airway:	n/a
39	chr4:132645884-132645934	NT2-D1	testis:	n/a
40	chr4:132644348-132644398	HRPEpiC	eye:	n/a
41	chr4:132645884-132645934	CMK	blood:	n/a
42	chr4:132643925-132643975	HUVEC	blood vessel:	n/a
43	chr4:132645884-132645934	HNPCEpiC	eye:	n/a
44	chr4:132645884-132645934	GM19239	blood:	n/a
45	chr4:132646360-132646410	HepG2	liver:	n/a
46	chr4:132646360-132646410	HIPEpiC	eye:	n/a
47	chr4:132644348-132644398	NHDF-neo	bronchial:	n/a
48	chr4:132645884-132645934	HRE	kidney:	n/a
49	chr4:132646360-132646410	BJ	skin:	n/a
50	chr4:132644348-132644398	HepG2	liver:	n/a

No data

Variant related genes	Relation type
RN7SL205P	TF binding region
RN7SL205P	CpG island

Extended variants
information (count: 308 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192204281	chr4:132643202-132643203	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs553441782	chr4:132643231-132643232	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs566481978	chr4:132643260-132643261	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs538646065	chr4:132643278-132643279	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs13434514	chr4:132643282-132643283	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575516044	chr4:132643291-132643292	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs544916144	chr4:132643303-132643304	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs111713745	chr4:132643309-132643310	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs554836981	chr4:132643340-132643341	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs182855222	chr4:132643357-132643358	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs542314989	chr4:132643370-132643371	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs539708550	chr4:132643407-132643408	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs539739439	chr4:132643411-132643412	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs112816007	chr4:132643413-132643414	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs187713548	chr4:132643421-132643422	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs545009130	chr4:132643446-132643447	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs564903873	chr4:132643458-132643459	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs530800011	chr4:132643519-132643520	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs550870659	chr4:132643523-132643524	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs113164698	chr4:132643534-132643535	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200066894	chr4:132643560-132643561	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs529903673	chr4:132643568-132643569	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs373118068	chr4:132643570-132643571	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs546525954	chr4:132643594-132643595	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs566618425	chr4:132643596-132643597	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs538783083	chr4:132643609-132643610	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs150671870	chr4:132643615-132643616	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs138871524	chr4:132643662-132643663	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs367806971	chr4:132643671-132643672	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs1849322	chr4:132643678-132643679	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs561738854	chr4:132643682-132643683	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs574886122	chr4:132643755-132643756	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10027765	chr4:132643793-132643794	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs192517558	chr4:132643816-132643817	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs28868081	chr4:132643837-132643838	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545726013	chr4:132643862-132643863	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139499150	chr4:132643870-132643871	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564843078	chr4:132643891-132643892	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575207970	chr4:132643897-132643898	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544132156	chr4:132643900-132643901	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62317432	chr4:132643909-132643910	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs185033577	chr4:132643910-132643911	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572700220	chr4:132643913-132643914	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147173653	chr4:132643917-132643918	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189018579	chr4:132643931-132643932	Weak transcription Flanking Active TSS Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs376739760	chr4:132643933-132643934	Weak transcription Flanking Active TSS Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs541246653	chr4:132643939-132643940	Weak transcription Flanking Active TSS Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs532441267	chr4:132643953-132643954	Weak transcription Flanking Active TSS Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs111410834	chr4:132643966-132643967	Weak transcription Flanking Active TSS Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs538239640	chr4:132643969-132643970	Weak transcription Flanking Active TSS Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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
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
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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	19492091	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132643200-132644000	Enhancers	GM12878-XiMat	blood
2	chr4:132643400-132643600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:132643600-132644000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:132643800-132646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:132644000-132644200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:132645800-132646800	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr4:132646000-132646400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:132646000-132646400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:132646000-132646400	Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr4:132646000-132646400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr4:132646000-132646400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:132646000-132646400	Active TSS	Ovary	ovary
13	chr4:132646000-132646400	Active TSS	Stomach Smooth Muscle	stomach
14	chr4:132646000-132647000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:132646200-132646400	ZNF genes & repeats	Gastric	stomach
16	chr4:132646200-132646400	Active TSS	Right Ventricle	heart
17	chr4:132646200-132646600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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