Variant report

Variant	esv18641
Chromosome Location	chr4:132645335-132664076
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:148)
CpG islands
(count:1343)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:148 , 50 per page) page: 1 2 3

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	CTCF	chr4:132656263-132656342	GM10248	blood:	n/a	n/a
5	CTCF	chr4:132651343-132651348	GM10248	blood:	n/a	n/a
6	CTCF	chr4:132663911-132663984	GM12891	blood:	n/a	n/a
7	CTCF	chr4:132656296-132656315	LNCaP	prostate:	n/a	n/a
8	CTCF	chr4:132656337-132656391	LNCaP	prostate:	n/a	n/a
9	E2F6	chr4:132646712-132646865	K562	blood:	n/a	n/a
10	ESR1	chr4:132646144-132646379	T-47D	breast:	n/a	n/a
11	FOSL2	chr4:132663766-132664083	HepG2	liver:	n/a	n/a
12	HEY1	chr4:132646169-132646415	K562	blood:	n/a	n/a
13	HEY1	chr4:132658465-132658706	HepG2	liver:	n/a	n/a
14	HEY1	chr4:132646146-132646336	HepG2	liver:	n/a	n/a
15	HEY1	chr4:132648681-132648865	K562	blood:	n/a	n/a
16	HEY1	chr4:132651064-132651326	HepG2	liver:	n/a	n/a
17	HEY1	chr4:132648601-132648997	K562	blood:	n/a	n/a
18	HEY1	chr4:132651079-132651270	K562	blood:	n/a	n/a
19	HEY1	chr4:132648596-132649072	HepG2	liver:	n/a	n/a
20	HEY1	chr4:132660960-132661201	HepG2	liver:	n/a	n/a
21	HEY1	chr4:132655977-132656218	HepG2	liver:	n/a	n/a
22	JUND	chr4:132646170-132646446	A549	lung:	n/a	n/a
23	MAX	chr4:132646236-132646273	GM12878	blood:	n/a	n/a
24	MAX	chr4:132646229-132646270	Hela-S3	cervix:	n/a	n/a
25	MAX	chr4:132646710-132646923	K562	blood:	n/a	n/a
26	MAX	chr4:132646753-132646855	K562	blood:	n/a	n/a
27	MAZ	chr4:132646241-132646260	K562	blood:	n/a	n/a
28	NRF1	chr4:132646059-132646277	GM12878	blood:	n/a	n/a
29	NRF1	chr4:132646069-132646270	H1-hESC	embryonic stem cell:	n/a	n/a
30	NRF1	chr4:132646152-132646327	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr4:132648650-132649120	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr4:132646197-132646293	HepG2	liver:	n/a	n/a
33	POLR2A	chr4:132646200-132646289	A549	lung:	n/a	n/a
34	POLR2A	chr4:132648692-132648829	A549	lung:	n/a	n/a
35	POLR2A	chr4:132653734-132653811	HepG2	liver:	n/a	n/a
36	POLR2A	chr4:132646152-132646317	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr4:132651102-132651338	GM12878	blood:	n/a	n/a
38	POLR2A	chr4:132646183-132646335	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr4:132648696-132649062	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr4:132648895-132648987	A549	lung:	n/a	n/a
41	POLR2A	chr4:132646194-132646311	A549	lung:	n/a	n/a
42	POLR2A	chr4:132658666-132658765	A549	lung:	n/a	n/a
43	POLR2A	chr4:132646244-132646359	Gliobla	brain:	n/a	n/a
44	POLR2A	chr4:132663611-132663772	HepG2	liver:	n/a	n/a
45	POLR2A	chr4:132648603-132649153	GM12892	blood:	n/a	n/a
46	POLR2A	chr4:132646077-132646438	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr4:132648535-132649106	A549	lung:	n/a	n/a
48	POLR2A	chr4:132653724-132653807	A549	lung:	n/a	n/a
49	POLR2A	chr4:132648580-132648806	Gliobla	brain:	n/a	n/a
50	POLR2A	chr4:132663655-132663732	A549	lung:	n/a	n/a

(count:1343 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:132653123-132653173	LNCaP	prostate:	n/a
2	chr4:132653123-132653173	LNCaP	prostate:	n/a
3	chr4:132649551-132649601	A549	lung:	n/a
4	chr4:132654638-132654688	HEEpiC	esophagus:	n/a
5	chr4:132645884-132645934	HPAEpiC	pulmonary alveolar:	n/a
6	chr4:132649551-132649601	HCPEpiC	choroid plexus:	n/a
7	chr4:132655659-132655709	SK-N-MC	brain:	n/a
8	chr4:132660385-132660435	BJ	skin:	n/a
9	chr4:132660385-132660435	HUVEC	blood vessel:	n/a
10	chr4:132661931-132661981	HEK293	kidney:	embryo
11	chr4:132651902-132651952	PFSK-1	brain:	n/a
12	chr4:132646360-132646410	SK-N-SH	brain:	n/a
13	chr4:132649551-132649601	HCF	heart:	n/a
14	chr4:132651902-132651952	NHDF-neo	bronchial:	n/a
15	chr4:132654220-132654270	GM12892	blood:	n/a
16	chr4:132654220-132654270	ECC-1	luminal epithelium:	n/a
17	chr4:132653123-132653173	MCF-7	breast:	n/a
18	chr4:132647861-132647911	NH-A	brain:	n/a
19	chr4:132647861-132647911	BJ	skin:	n/a
20	chr4:132663979-132664029	HCF	heart:	n/a
21	chr4:132649551-132649601	H1-hESC	embryonic stem cell:	embryo
22	chr4:132649229-132649279	AG09309	skin:	n/a
23	chr4:132647121-132647171	IMR90	lung:	fetal
24	chr4:132649551-132649601	LNCaP	prostate:	n/a
25	chr4:132645884-132645934	AG09319	gingival:	n/a
26	chr4:132647121-132647171	HAEpiC	amniotic membrane:	n/a
27	chr4:132650897-132650947	SAEC	small airway:	n/a
28	chr4:132646360-132646410	CMK	blood:	n/a
29	chr4:132652113-132652163	NT2-D1	testis:	n/a
30	chr4:132652113-132652163	Hepatocyte	liver:	n/a
31	chr4:132663979-132664029	HRE	kidney:	n/a
32	chr4:132646574-132646624	Hepatocyte	liver:	n/a
33	chr4:132654638-132654688	NHDF-neo	bronchial:	n/a
34	chr4:132663979-132664029	K562	blood:	n/a
35	chr4:132646574-132646624	IMR90	lung:	fetal
36	chr4:132649229-132649279	Jurkat	blood:	n/a
37	chr4:132653123-132653173	CMK	blood:	n/a
38	chr4:132649229-132649279	HPAEpiC	pulmonary alveolar:	n/a
39	chr4:132655659-132655709	HMEC	breast:	n/a
40	chr4:132647023-132647073	AG10803	skin:	n/a
41	chr4:132646360-132646410	HEEpiC	esophagus:	n/a
42	chr4:132655659-132655709	GM19239	blood:	n/a
43	chr4:132652113-132652163	HRPEpiC	eye:	n/a
44	chr4:132646360-132646410	IMR90	lung:	fetal
45	chr4:132647121-132647171	NT2-D1	testis:	n/a
46	chr4:132652113-132652163	K562	blood:	n/a
47	chr4:132653123-132653173	GM12878	blood:	n/a
48	chr4:132646360-132646410	GM06990	blood:	n/a
49	chr4:132649551-132649601	PANC-1	pancreas:	n/a
50	chr4:132646360-132646410	HCM	heart:	n/a

No data

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

Extended variants
information (count: 363 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3978152	chr4:132645391-132645392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3978153	chr4:132645433-132645434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527355545	chr4:132645437-132645438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534851920	chr4:132645505-132645506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547101893	chr4:132645517-132645518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570069491	chr4:132645521-132645522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369149854	chr4:132645528-132645529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112744989	chr4:132645558-132645559	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs113605382	chr4:132645571-132645572	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs145940362	chr4:132645572-132645573	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201827074	chr4:132645603-132645604	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs3978154	chr4:132645605-132645606	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs549791563	chr4:132645615-132645616	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs569835803	chr4:132645639-132645640	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs535769325	chr4:132645657-132645658	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs3978155	chr4:132645658-132645659	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs555573623	chr4:132645677-132645678	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs572286811	chr4:132645683-132645684	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs370769385	chr4:132645688-132645689	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs3978156	chr4:132645693-132645694	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs2863570	chr4:132645701-132645702	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs3978157	chr4:132645703-132645704	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs3978158	chr4:132645705-132645706	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs535620148	chr4:132645717-132645718	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs74637102	chr4:132645753-132645754	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs3978159	chr4:132645764-132645765	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs543443669	chr4:132645769-132645770	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs150732404	chr4:132645770-132645771	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs3978160	chr4:132645798-132645799	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs113932358	chr4:132645801-132645802	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs2863571	chr4:132645812-132645813	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs543326098	chr4:132645814-132645815	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs377644078	chr4:132645820-132645821	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs370821905	chr4:132645827-132645828	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs559484230	chr4:132645854-132645855	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs3978139	chr4:132645868-132645869	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs545246483	chr4:132645870-132645871	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs3978140	chr4:132645886-132645887	Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs71633779	chr4:132645898-132645899	Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs192812683	chr4:132645909-132645910	Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs75324190	chr4:132645911-132645912	Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs569655725	chr4:132645928-132645929	Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs188538440	chr4:132645939-132645940	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs539006922	chr4:132645946-132645947	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs192906707	chr4:132645976-132645977	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs184092708	chr4:132645979-132645980	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs571322247	chr4:132645980-132645981	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs374250258	chr4:132645987-132645988	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs71633780	chr4:132646001-132646002	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs371603311	chr4:132646028-132646029	Active TSS	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:21 , 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
15	chr4:132650400-132650600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:132663800-132664000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
17	chr4:132663800-132664000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:132663800-132664000	ZNF genes & repeats	Dnd41	blood
19	chr4:132663800-132664800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:132663800-132664800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:132664000-132664400	Weak transcription	Dnd41	blood

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