Variant report

Variant	esv3389432
Chromosome Location	chr4:132645727-132648275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr4:132646067-132646366	K562	blood:	n/a	n/a
2	CHD2	chr4:132646065-132646272	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr4:132646072-132646353	GM12878	blood:	n/a	n/a
4	E2F6	chr4:132646712-132646865	K562	blood:	n/a	n/a
5	ESR1	chr4:132646144-132646379	T-47D	breast:	n/a	n/a
6	HEY1	chr4:132646146-132646336	HepG2	liver:	n/a	n/a
7	HEY1	chr4:132646169-132646415	K562	blood:	n/a	n/a
8	JUND	chr4:132646170-132646446	A549	lung:	n/a	n/a
9	MAX	chr4:132646229-132646270	Hela-S3	cervix:	n/a	n/a
10	MAX	chr4:132646236-132646273	GM12878	blood:	n/a	n/a
11	MAX	chr4:132646710-132646923	K562	blood:	n/a	n/a
12	MAX	chr4:132646753-132646855	K562	blood:	n/a	n/a
13	MAZ	chr4:132646241-132646260	K562	blood:	n/a	n/a
14	NRF1	chr4:132646059-132646277	GM12878	blood:	n/a	n/a
15	NRF1	chr4:132646069-132646270	H1-hESC	embryonic stem cell:	n/a	n/a
16	NRF1	chr4:132646152-132646327	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr4:132646169-132646321	GM12878	blood:	n/a	n/a
18	POLR2A	chr4:132646197-132646293	HepG2	liver:	n/a	n/a
19	POLR2A	chr4:132646102-132646468	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr4:132646236-132646390	MCF-7	breast:	n/a	n/a
21	POLR2A	chr4:132646152-132646317	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr4:132646079-132646362	K562	blood:	n/a	n/a
23	POLR2A	chr4:132646200-132646289	A549	lung:	n/a	n/a
24	POLR2A	chr4:132646229-132646433	HepG2	liver:	n/a	n/a
25	POLR2A	chr4:132646180-132646341	HepG2	liver:	n/a	n/a
26	POLR2A	chr4:132646073-132646442	Raji	blood:	n/a	n/a
27	POLR2A	chr4:132646244-132646359	Gliobla	brain:	n/a	n/a
28	POLR2A	chr4:132646233-132646409	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr4:132646118-132646541	GM12892	blood:	n/a	n/a
30	POLR2A	chr4:132646182-132646347	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:132646179-132646336	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr4:132646237-132646372	MCF-7	breast:	n/a	n/a
33	POLR2A	chr4:132646180-132646358	GM12878	blood:	n/a	n/a
34	POLR2A	chr4:132646183-132646335	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr4:132646169-132646311	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr4:132646187-132646332	A549	lung:	n/a	n/a
37	POLR2A	chr4:132646194-132646311	A549	lung:	n/a	n/a
38	POLR2A	chr4:132646027-132646527	K562	blood:	n/a	n/a
39	POLR2A	chr4:132646112-132646399	HepG2	liver:	n/a	n/a
40	POLR2A	chr4:132646074-132646435	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr4:132646156-132646314	HCT-116	colon:	n/a	n/a
42	POLR2A	chr4:132646230-132646458	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr4:132646177-132646426	MCF-7	breast:	n/a	n/a
44	POLR2A	chr4:132646116-132646448	A549	lung:	n/a	n/a
45	POLR2A	chr4:132646131-132646532	GM12878	blood:	n/a	n/a
46	POLR2A	chr4:132646235-132646437	GM12878	blood:	n/a	n/a
47	POLR2A	chr4:132646163-132646329	A549	lung:	n/a	n/a
48	POLR2A	chr4:132646077-132646438	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr4:132646035-132646433	K562	blood:	n/a	n/a
50	POLR2A	chr4:132646221-132646287	GM12878	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:132647861-132647911	SKMC	muscle:	n/a
2	chr4:132647023-132647073	U87	brain:	n/a
3	chr4:132647861-132647911	ProgFib	skin:	n/a
4	chr4:132646360-132646410	NH-A	brain:	n/a
5	chr4:132647861-132647911	NB4	blood:	n/a
6	chr4:132647861-132647911	HCT-116	colon:	n/a
7	chr4:132645884-132645934	BE2_C	brain:	n/a
8	chr4:132646360-132646410	K562	blood:	n/a
9	chr4:132647023-132647073	BE2_C	brain:	n/a
10	chr4:132647121-132647171	BJ	skin:	n/a
11	chr4:132647023-132647073	SK-N-SH	brain:	n/a
12	chr4:132646574-132646624	HUVEC	blood vessel:	n/a
13	chr4:132647121-132647171	LNCaP	prostate:	n/a
14	chr4:132646574-132646624	GM12891	blood:	n/a
15	chr4:132646574-132646624	AG09309	skin:	n/a
16	chr4:132647121-132647171	GM06990	blood:	n/a
17	chr4:132647121-132647171	CMK	blood:	n/a
18	chr4:132645884-132645934	HL-60	blood:	n/a
19	chr4:132647121-132647171	Jurkat	blood:	n/a
20	chr4:132646574-132646624	Caco-2	colon:	n/a
21	chr4:132647023-132647073	GM06990	blood:	n/a
22	chr4:132647861-132647911	T-47D	breast:	n/a
23	chr4:132647023-132647073	HL-60	blood:	n/a
24	chr4:132647861-132647911	GM12892	blood:	n/a
25	chr4:132646574-132646624	SK-N-SH_RA	brain:	n/a
26	chr4:132645884-132645934	ovcar-3	ovarian:	n/a
27	chr4:132645884-132645934	HCF	heart:	n/a
28	chr4:132646360-132646410	AG09309	skin:	n/a
29	chr4:132647861-132647911	ovcar-3	ovarian:	n/a
30	chr4:132645884-132645934	Caco-2	colon:	n/a
31	chr4:132646574-132646624	HL-60	blood:	n/a
32	chr4:132645884-132645934	AG09309	skin:	n/a
33	chr4:132646360-132646410	IMR90	lung:	fetal
34	chr4:132645884-132645934	HIPEpiC	eye:	n/a
35	chr4:132646360-132646410	AG04450	lung:	fetal
36	chr4:132645884-132645934	LNCaP	prostate:	n/a
37	chr4:132646360-132646410	Jurkat	blood:	n/a
38	chr4:132647861-132647911	HAEpiC	amniotic membrane:	n/a
39	chr4:132647023-132647073	PANC-1	pancreas:	n/a
40	chr4:132647121-132647171	BE2_C	brain:	n/a
41	chr4:132645884-132645934	HCM	heart:	n/a
42	chr4:132645884-132645934	HepG2	liver:	n/a
43	chr4:132646574-132646624	BJ	skin:	n/a
44	chr4:132647023-132647073	HCM	heart:	n/a
45	chr4:132647861-132647911	CMK	blood:	n/a
46	chr4:132645884-132645934	NH-A	brain:	n/a
47	chr4:132647023-132647073	NB4	blood:	n/a
48	chr4:132645884-132645934	PANC-1	pancreas:	n/a
49	chr4:132647121-132647171	IMR90	lung:	fetal
50	chr4:132645884-132645934	SK-N-MC	brain:	n/a

No data

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

Extended variants
information (count: 153 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74637102	chr4:132645753-132645754	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs3978159	chr4:132645764-132645765	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs543443669	chr4:132645769-132645770	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs150732404	chr4:132645770-132645771	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs3978160	chr4:132645798-132645799	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs113932358	chr4:132645801-132645802	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs2863571	chr4:132645812-132645813	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs543326098	chr4:132645814-132645815	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs377644078	chr4:132645820-132645821	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs370821905	chr4:132645827-132645828	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs559484230	chr4:132645854-132645855	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs3978139	chr4:132645868-132645869	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545246483	chr4:132645870-132645871	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs3978140	chr4:132645886-132645887	Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs71633779	chr4:132645898-132645899	Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs192812683	chr4:132645909-132645910	Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs75324190	chr4:132645911-132645912	Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs569655725	chr4:132645928-132645929	Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs188538440	chr4:132645939-132645940	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs539006922	chr4:132645946-132645947	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs192906707	chr4:132645976-132645977	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs184092708	chr4:132645979-132645980	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs571322247	chr4:132645980-132645981	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs374250258	chr4:132645987-132645988	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs71633780	chr4:132646001-132646002	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs371603311	chr4:132646028-132646029	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs74577249	chr4:132646031-132646032	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs111627464	chr4:132646044-132646045	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs558025026	chr4:132646061-132646062	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs571633929	chr4:132646064-132646065	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs368769738	chr4:132646066-132646067	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs537577467	chr4:132646074-132646075	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs557043383	chr4:132646082-132646083	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs573992862	chr4:132646086-132646087	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs572764458	chr4:132646089-132646090	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs553249868	chr4:132646096-132646097	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs573243179	chr4:132646098-132646099	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs369547061	chr4:132646103-132646104	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs545181371	chr4:132646104-132646105	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs79702588	chr4:132646116-132646117	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs71633781	chr4:132646122-132646123	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs532862487	chr4:132646124-132646125	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs372311337	chr4:132646146-132646147	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs375904283	chr4:132646148-132646149	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs370009870	chr4:132646159-132646160	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs372688574	chr4:132646160-132646161	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs377382832	chr4:132646168-132646169	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs142017090	chr4:132646207-132646208	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs369396436	chr4:132646217-132646218	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs180893610	chr4:132646222-132646223	Active TSS ZNF genes & repeats	TF binding region	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132643800-132646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:132645800-132646800	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr4:132646000-132646400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:132646000-132646400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:132646000-132646400	Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr4:132646000-132646400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr4:132646000-132646400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:132646000-132646400	Active TSS	Ovary	ovary
9	chr4:132646000-132646400	Active TSS	Stomach Smooth Muscle	stomach
10	chr4:132646000-132647000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:132646200-132646400	ZNF genes & repeats	Gastric	stomach
12	chr4:132646200-132646400	Active TSS	Right Ventricle	heart
13	chr4:132646200-132646600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr4:132648200-132649200	Active TSS	HMEC	breast

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