Variant report

Variant	esv1818158
Chromosome Location	chr3:87645884-87688502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:125 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr3:87676571-87676792	K562	blood:	n/a	n/a
2	ATF1	chr3:87661797-87661994	K562	blood:	n/a	n/a
3	BCL11A	chr3:87670905-87671200	GM12878	blood:	n/a	n/a
4	CBX3	chr3:87664665-87664997	K562	blood:	n/a	n/a
5	CBX3	chr3:87664686-87664965	K562	blood:	n/a	n/a
6	CBX3	chr3:87656185-87656439	K562	blood:	n/a	n/a
7	CBX3	chr3:87656209-87656523	K562	blood:	n/a	n/a
8	CEBPB	chr3:87675289-87675572	HepG2	liver:	n/a	chr3:87675466-87675477
9	CEBPB	chr3:87675358-87675558	K562	blood:	n/a	chr3:87675466-87675477
10	CEBPB	chr3:87665503-87665712	K562	blood:	n/a	chr3:87665588-87665599
11	CEBPB	chr3:87665485-87665674	A549	lung:	n/a	chr3:87665588-87665599
12	CEBPB	chr3:87674094-87674465	K562	blood:	n/a	n/a
13	CEBPB	chr3:87674126-87674368	K562	blood:	n/a	n/a
14	CEBPB	chr3:87665446-87665661	HepG2	liver:	n/a	chr3:87665588-87665599
15	CHD2	chr3:87676545-87676752	K562	blood:	n/a	n/a
16	CTCF	chr3:87661900-87662050	MCF-7	breast:	n/a	n/a
17	CTCF	chr3:87661861-87662057	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr3:87664118-87664402	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr3:87661942-87661977	LNCaP	prostate:	n/a	n/a
20	CTCF	chr3:87661883-87662023	K562	blood:	n/a	n/a
21	CTCF	chr3:87661922-87661998	K562	blood:	n/a	n/a
22	CTCF	chr3:87664240-87664390	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr3:87661932-87661986	GM12878	blood:	n/a	n/a
24	CTCF	chr3:87661780-87661930	GM06990	blood:	n/a	n/a
25	CTCF	chr3:87661880-87662030	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr3:87661840-87661990	HMEC	breast:	n/a	n/a
27	CTCF	chr3:87685285-87685326	Pancreas_OC	pancreas:	n/a	n/a
28	CTCF	chr3:87661800-87661950	MCF-7	breast:	n/a	n/a
29	CTCF	chr3:87661901-87662000	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr3:87661866-87662028	MCF-7	breast:	n/a	n/a
31	CTCF	chr3:87671288-87671310	Fibrobl	skin:	n/a	n/a
32	E2F4	chr3:87675936-87676104	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr3:87659420-87659429	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F6	chr3:87656509-87656661	K562	blood:	n/a	n/a
35	E2F6	chr3:87656409-87656738	H1-hESC	embryonic stem cell:	n/a	n/a
36	E2F6	chr3:87656283-87656740	H1-hESC	embryonic stem cell:	n/a	n/a
37	EBF1	chr3:87661988-87661990	GM12878	blood:	n/a	n/a
38	EBF1	chr3:87671002-87671144	GM12878	blood:	n/a	n/a
39	EP300	chr3:87670859-87671178	GM12878	blood:	n/a	chr3:87671020-87671034
40	FOS	chr3:87675136-87675403	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr3:87675146-87675258	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr3:87675199-87675313	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr3:87675112-87675336	MCF10A-Er-Src	breast:	n/a	n/a
44	FOSL2	chr3:87649749-87650060	MCF-7	breast:	n/a	chr3:87649823-87649831 chr3:87649822-87649832
45	GABPA	chr3:87666901-87666988	HepG2	liver:	n/a	n/a
46	GATA3	chr3:87684195-87684329	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr3:87649570-87650104	MCF-7	breast:	n/a	n/a
48	GATA3	chr3:87649762-87650078	T-47D	breast:	n/a	n/a
49	GATA3	chr3:87649690-87649983	T-47D	breast:	n/a	n/a
50	GATA3	chr3:87649551-87650295	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:87670698..87673462-chr3:87675838..87678506,3	K562	blood:
2	chr3:87670698..87673462-chr3:87676763..87678506,2	K562	blood:
3	chr3:87670698..87673462-chr3:87675838..87678506,3	K562	blood:
4	chr3:87670698..87673462-chr3:87676763..87678506,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POU1F1-1	chr3:87679451-87680769	NONHSAT090691

No data

Variant related genes	Relation type
PSMC1P6	TF binding region

Extended variants
information (count: 832 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:832 , 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	rs9877171	chr3:87645884-87645885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538222027	chr3:87645924-87645925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189183587	chr3:87645933-87645934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376553851	chr3:87646015-87646016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191777273	chr3:87646047-87646048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2202916	chr3:87646107-87646108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs554117988	chr3:87646108-87646109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184942862	chr3:87646114-87646115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373518393	chr3:87646125-87646126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546213256	chr3:87646134-87646135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564414989	chr3:87646135-87646136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539705903	chr3:87646147-87646148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117748095	chr3:87646181-87646182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142020053	chr3:87646190-87646191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561304845	chr3:87646195-87646196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528985726	chr3:87646207-87646208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77455828	chr3:87646278-87646279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189304326	chr3:87646320-87646321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180879128	chr3:87646333-87646334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551728818	chr3:87646340-87646341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375365880	chr3:87646342-87646343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377359562	chr3:87646344-87646345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145769705	chr3:87646355-87646356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370448936	chr3:87646439-87646440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550209799	chr3:87646443-87646444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568439229	chr3:87646453-87646454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113903674	chr3:87646533-87646534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554223389	chr3:87646565-87646566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566169939	chr3:87646578-87646579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187270134	chr3:87646632-87646633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570230201	chr3:87646647-87646648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535615534	chr3:87646664-87646665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189395342	chr3:87646700-87646701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376083201	chr3:87646801-87646802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111654912	chr3:87646808-87646809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79968142	chr3:87646825-87646826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76990777	chr3:87646826-87646827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368481192	chr3:87646901-87646902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555118947	chr3:87646934-87646935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572378095	chr3:87646981-87646982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181961615	chr3:87647062-87647063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372304611	chr3:87647075-87647076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541460948	chr3:87647098-87647099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142907109	chr3:87647183-87647184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559377542	chr3:87647187-87647188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9863342	chr3:87647203-87647204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs545241039	chr3:87647224-87647225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112674286	chr3:87647244-87647245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530873080	chr3:87647253-87647254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549288962	chr3:87647263-87647264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:87645400-87646200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr3:87646000-87646400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr3:87646200-87648000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:87648000-87648600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr3:87649400-87650200	Enhancers	Hela-S3	cervix
6	chr3:87655600-87656600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:87657000-87657800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr3:87662000-87664400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:87664200-87664600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr3:87664400-87664800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:87664400-87665000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:87664600-87664800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr3:87664800-87665200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:87664800-87669800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr3:87666800-87667000	Bivalent Enhancer	Esophagus	oesophagus
16	chr3:87675000-87676000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:87675600-87676400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:87675600-87677200	Enhancers	K562	blood
19	chr3:87676400-87677000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:87676600-87677200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr3:87683000-87683200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:87683000-87683400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
23	chr3:87683200-87683400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:87686600-87687600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:87686800-87687400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:87686800-87687400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr3:87686800-87687600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:87687000-87687400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr3:87687000-87687400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr3:87687000-87687400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:87687600-87694000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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