Variant report

Variant	esv1808386
Chromosome Location	chr4:132644452-132684488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:182)
CpG islands
(count:2075)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:182 , 50 per page) page: 1 2 3 4

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	chr4:132664482-132664598	LNCaP	prostate:	n/a	chr4:132664549-132664562
5	CTCF	chr4:132663911-132663984	GM12891	blood:	n/a	n/a
6	CTCF	chr4:132651343-132651348	GM10248	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	CTCF	chr4:132671917-132672049	LNCaP	prostate:	n/a	chr4:132671985-132671998
10	CTCF	chr4:132664464-132664625	LNCaP	prostate:	n/a	chr4:132664549-132664562
11	CTCF	chr4:132656263-132656342	GM10248	blood:	n/a	n/a
12	CTCF	chr4:132680481-132680506	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr4:132671870-132672056	LNCaP	prostate:	n/a	chr4:132671985-132671998
14	E2F6	chr4:132646712-132646865	K562	blood:	n/a	n/a
15	ESR1	chr4:132646144-132646379	T-47D	breast:	n/a	n/a
16	FOSL2	chr4:132671224-132671521	HepG2	liver:	n/a	n/a
17	FOSL2	chr4:132663766-132664083	HepG2	liver:	n/a	n/a
18	HEY1	chr4:132660960-132661201	HepG2	liver:	n/a	n/a
19	HEY1	chr4:132658465-132658706	HepG2	liver:	n/a	n/a
20	HEY1	chr4:132646169-132646415	K562	blood:	n/a	n/a
21	HEY1	chr4:132651079-132651270	K562	blood:	n/a	n/a
22	HEY1	chr4:132655977-132656218	HepG2	liver:	n/a	n/a
23	HEY1	chr4:132648681-132648865	K562	blood:	n/a	n/a
24	HEY1	chr4:132648596-132649072	HepG2	liver:	n/a	n/a
25	HEY1	chr4:132651064-132651326	HepG2	liver:	n/a	n/a
26	HEY1	chr4:132646146-132646336	HepG2	liver:	n/a	n/a
27	HEY1	chr4:132648601-132648997	K562	blood:	n/a	n/a
28	JUND	chr4:132646170-132646446	A549	lung:	n/a	n/a
29	MAX	chr4:132646229-132646270	Hela-S3	cervix:	n/a	n/a
30	MAX	chr4:132646710-132646923	K562	blood:	n/a	n/a
31	MAX	chr4:132646753-132646855	K562	blood:	n/a	n/a
32	MAX	chr4:132646236-132646273	GM12878	blood:	n/a	n/a
33	MAZ	chr4:132646241-132646260	K562	blood:	n/a	n/a
34	NRF1	chr4:132646059-132646277	GM12878	blood:	n/a	n/a
35	NRF1	chr4:132646152-132646327	SK-N-SH	brain:	n/a	n/a
36	NRF1	chr4:132646069-132646270	H1-hESC	embryonic stem cell:	n/a	n/a
37	PAX5	chr4:132664805-132664976	GM12878	blood:	n/a	n/a
38	PAX5	chr4:132672241-132672412	GM12878	blood:	n/a	n/a
39	POLR2A	chr4:132648580-132648806	Gliobla	brain:	n/a	n/a
40	POLR2A	chr4:132658666-132658765	A549	lung:	n/a	n/a
41	POLR2A	chr4:132646187-132646332	A549	lung:	n/a	n/a
42	POLR2A	chr4:132646152-132646317	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr4:132658620-132658869	HepG2	liver:	n/a	n/a
44	POLR2A	chr4:132663611-132663772	HepG2	liver:	n/a	n/a
45	POLR2A	chr4:132663655-132663732	A549	lung:	n/a	n/a
46	POLR2A	chr4:132648692-132648841	HepG2	liver:	n/a	n/a
47	POLR2A	chr4:132656157-132656320	HepG2	liver:	n/a	n/a
48	POLR2A	chr4:132658677-132658754	A549	lung:	n/a	n/a
49	POLR2A	chr4:132668625-132668683	A549	lung:	n/a	n/a
50	POLR2A	chr4:132651102-132651338	GM12878	blood:	n/a	n/a

(count:2075 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:132646360-132646410	HNPCEpiC	eye:	n/a
2	chr4:132646360-132646410	HNPCEpiC	eye:	n/a
3	chr4:132661961-132662011	GM12891	blood:	n/a
4	chr4:132647861-132647911	K562	blood:	n/a
5	chr4:132671417-132671467	H1-hESC	embryonic stem cell:	embryo
6	chr4:132650897-132650947	AG09309	skin:	n/a
7	chr4:132655659-132655709	CMK	blood:	n/a
8	chr4:132683397-132683447	PANC-1	pancreas:	n/a
9	chr4:132649479-132649529	PANC-1	pancreas:	n/a
10	chr4:132660385-132660435	MCF-7	breast:	n/a
11	chr4:132650897-132650947	GM06990	blood:	n/a
12	chr4:132646574-132646624	CMK	blood:	n/a
13	chr4:132661961-132662011	HCF	heart:	n/a
14	chr4:132649479-132649529	HAEpiC	amniotic membrane:	n/a
15	chr4:132671417-132671467	HRCEpiC	kidney:	n/a
16	chr4:132647861-132647911	SK-N-SH_RA	brain:	n/a
17	chr4:132663979-132664029	HCPEpiC	choroid plexus:	n/a
18	chr4:132666925-132666975	SAEC	small airway:	n/a
19	chr4:132654638-132654688	PFSK-1	brain:	n/a
20	chr4:132646574-132646624	GM12891	blood:	n/a
21	chr4:132665367-132665417	HIPEpiC	eye:	n/a
22	chr4:132649229-132649279	HAEpiC	amniotic membrane:	n/a
23	chr4:132646574-132646624	HRE	kidney:	n/a
24	chr4:132666907-132666957	AG09319	gingival:	n/a
25	chr4:132647121-132647171	HNPCEpiC	eye:	n/a
26	chr4:132646360-132646410	HAEpiC	amniotic membrane:	n/a
27	chr4:132669467-132669517	PrEC	prostate:	n/a
28	chr4:132654638-132654688	GM12892	blood:	n/a
29	chr4:132650897-132650947	A549	lung:	n/a
30	chr4:132649551-132649601	AG04450	lung:	fetal
31	chr4:132671715-132671765	HEEpiC	esophagus:	n/a
32	chr4:132645884-132645934	HMEC	breast:	n/a
33	chr4:132671417-132671467	GM12892	blood:	n/a
34	chr4:132649229-132649279	HepG2	liver:	n/a
35	chr4:132677681-132677731	HIPEpiC	eye:	n/a
36	chr4:132654220-132654270	MCF-7	breast:	n/a
37	chr4:132683397-132683447	HNPCEpiC	eye:	n/a
38	chr4:132665367-132665417	SAEC	small airway:	n/a
39	chr4:132666925-132666975	LNCaP	prostate:	n/a
40	chr4:132648785-132648835	H1-hESC	embryonic stem cell:	embryo
41	chr4:132649551-132649601	SK-N-MC	brain:	n/a
42	chr4:132671417-132671467	IMR90	lung:	fetal
43	chr4:132649479-132649529	HRE	kidney:	n/a
44	chr4:132666925-132666975	HCPEpiC	choroid plexus:	n/a
45	chr4:132655659-132655709	HCT-116	colon:	n/a
46	chr4:132655659-132655709	GM12878	blood:	n/a
47	chr4:132652113-132652163	Hepatocyte	liver:	n/a
48	chr4:132654638-132654688	HCPEpiC	choroid plexus:	n/a
49	chr4:132651902-132651952	HPAEpiC	pulmonary alveolar:	n/a
50	chr4:132648785-132648835	NH-A	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH10-16	chr4:132678560-132678792	NONHSAT098318

No data

Variant related genes	Relation type
ENSG00000249416	TF binding region
ENSG00000252014	TF binding region
RN7SL205P	TF binding region
ENSG00000249416	CpG island
ENSG00000252014	CpG island
RN7SL205P	CpG island

Extended variants
information (count: 813 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:813 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183227359	chr4:132644455-132644456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550220971	chr4:132644463-132644464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9997540	chr4:132644469-132644470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368455487	chr4:132644477-132644478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12511875	chr4:132644478-132644479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12500529	chr4:132644484-132644485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10030442	chr4:132644487-132644488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9997545	chr4:132644497-132644498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10030604	chr4:132644503-132644504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186718242	chr4:132644506-132644507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533672609	chr4:132644532-132644533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546965933	chr4:132644543-132644544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71633774	chr4:132644565-132644566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539680525	chr4:132644566-132644567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556190572	chr4:132644574-132644575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62317434	chr4:132644664-132644665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs36069988	chr4:132644709-132644710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535284878	chr4:132644722-132644723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555571058	chr4:132644754-132644755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201184974	chr4:132644760-132644761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572550341	chr4:132644778-132644779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541561286	chr4:132644784-132644785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200227802	chr4:132644787-132644788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564440843	chr4:132644796-132644797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143655158	chr4:132644799-132644800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35714836	chr4:132644807-132644808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372629993	chr4:132644811-132644812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376147956	chr4:132644824-132644825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563824081	chr4:132644836-132644837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370924720	chr4:132644892-132644893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374000457	chr4:132644904-132644905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192444399	chr4:132644923-132644924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113003941	chr4:132644945-132644946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371433034	chr4:132644951-132644952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529633034	chr4:132644977-132644978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549292391	chr4:132644989-132644990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147321714	chr4:132645005-132645006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367878032	chr4:132645036-132645037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189992380	chr4:132645038-132645039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149168183	chr4:132645048-132645049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199540908	chr4:132645177-132645178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375576736	chr4:132645186-132645187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs137962892	chr4:132645194-132645195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62317436	chr4:132645228-132645229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372709369	chr4:132645256-132645257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375968756	chr4:132645262-132645263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112728826	chr4:132645304-132645305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371673796	chr4:132645323-132645324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183911850	chr4:132645329-132645330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3978152	chr4:132645391-132645392	Weak transcription	n/a	n/a	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:37 , 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
22	chr4:132664400-132664800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:132664600-132664800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
24	chr4:132664600-132664800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:132664800-132671200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:132664800-132671200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:132664800-132671200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:132664800-132671200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:132664800-132671200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:132671200-132671600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:132671200-132671600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
32	chr4:132671200-132671600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:132671200-132671600	ZNF genes & repeats	Placenta	Placenta
34	chr4:132671200-132671800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:132671200-132672000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:132671600-132672400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:132671600-132672600	Weak transcription	Placenta	Placenta

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