Variant report

Variant	esv2763778
Chromosome Location	chr3:21241423-21343596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:21274702..21276486-chr9:12852043..12854335,2	MCF-7	breast:
2	chr3:21261396..21264170-chr3:21264811..21266902,2	K562	blood:
3	chr3:21274699..21278536-chr3:21278960..21282448,3	K562	blood:
4	chr3:21263124..21267489-chr3:21278004..21280410,3	K562	blood:
5	chr3:21302915..21304733-chr3:21307640..21309847,2	K562	blood:
6	chr3:20553366..20553898-chr3:21257700..21258348,2	MCF-7	breast:
7	chr3:21331844..21332737-chr5:18941538..18942038,2	MCF-7	breast:
8	chr3:21266614..21268748-chr3:21271799..21273765,2	K562	blood:
9	chr3:21259912..21262896-chr3:21264811..21266521,2	K562	blood:
10	chr3:20553254..20553852-chr3:21257816..21258713,2	MCF-7	breast:
11	chr3:21263124..21267489-chr3:21278004..21280410,3	K562	blood:
12	chr3:21259912..21262896-chr3:21264811..21266521,2	K562	blood:
13	chr3:21266614..21268748-chr3:21271799..21273765,2	K562	blood:
14	chr1:38156682..38159494-chr3:21306018..21307587,2	K562	blood:
15	chr3:20971297..20972149-chr3:21257804..21258756,2	MCF-7	breast:
16	chr3:21058438..21059584-chr3:21257830..21258577,6	MCF-7	breast:
17	chr3:21274699..21278536-chr3:21278960..21282448,3	K562	blood:
18	chr3:20381733..20382301-chr3:21331781..21332364,2	MCF-7	breast:
19	chr3:21302915..21304733-chr3:21307640..21309847,2	K562	blood:
20	chr3:21261396..21264170-chr3:21264811..21266902,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134690	chromatin interactions
ENSG00000116922	chromatin interactions

Extended variants
information (count: 2011 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2011 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546565658	chr3:21244612-21244613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs377103674	chr3:21244656-21244657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs150962477	chr3:21244678-21244679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs73821029	chr3:21244683-21244684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs546320723	chr3:21244702-21244703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs550771595	chr3:21244746-21244747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs371051086	chr3:21244747-21244748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs539769049	chr3:21244773-21244774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs370634362	chr3:21244779-21244780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs374989575	chr3:21244805-21244806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs558060337	chr3:21244813-21244814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs139536244	chr3:21244814-21244815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs190570850	chr3:21244838-21244839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs79265542	chr3:21244916-21244917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs149714045	chr3:21244928-21244929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs78889694	chr3:21244932-21244933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs544681544	chr3:21244938-21244939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs557214030	chr3:21244982-21244983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs575536841	chr3:21244993-21244994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs546003554	chr3:21245027-21245028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs536070692	chr3:21245032-21245033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs145971797	chr3:21245038-21245039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs564263751	chr3:21245051-21245052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs528383923	chr3:21245084-21245085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs534060249	chr3:21245116-21245117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs561685390	chr3:21245143-21245144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs146105989	chr3:21245144-21245145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs553863561	chr3:21245147-21245148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs202186969	chr3:21245218-21245219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs569545586	chr3:21245220-21245221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs537877361	chr3:21245258-21245259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs528972236	chr3:21245260-21245261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs550233725	chr3:21245280-21245281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs568591871	chr3:21245299-21245300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs182404028	chr3:21245306-21245307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs551944889	chr3:21245342-21245343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs371346275	chr3:21245348-21245349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs534462815	chr3:21245378-21245379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs185785588	chr3:21245391-21245392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs72573925	chr3:21245433-21245434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34616020	chr3:21245434-21245435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142472534	chr3:21245435-21245436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567622202	chr3:21245449-21245450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146740709	chr3:21245452-21245453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1370122	chr3:21245507-21245508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188351720	chr3:21245510-21245511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530053394	chr3:21245544-21245545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578092342	chr3:21245549-21245550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114516783	chr3:21245593-21245594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76649958	chr3:21245597-21245598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21244600-21245400	ZNF genes & repeats	Right Atrium	heart
2	chr3:21244800-21245400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:21245000-21245400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:21245000-21245400	ZNF genes & repeats	Aorta	Aorta
5	chr3:21245400-21246600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:21246600-21247000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:21250600-21251400	Enhancers	Brain Germinal Matrix	brain
8	chr3:21250600-21252600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:21250600-21252600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:21250800-21251800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:21251000-21251400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr3:21251000-21252000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:21251000-21252400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:21251200-21252200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:21251200-21252600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:21251800-21252200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr3:21252000-21252600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:21252000-21253200	Active TSS	NHDF-Ad	bronchial
19	chr3:21252200-21252400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr3:21252200-21252800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:21252400-21252800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:21252400-21252800	Active TSS	Right Atrium	heart
23	chr3:21263200-21264600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:21263600-21264400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:21264000-21265000	Enhancers	Aorta	Aorta
26	chr3:21264600-21265200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:21264600-21266000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr3:21265000-21265200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
29	chr3:21265200-21265600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:21265200-21266000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
31	chr3:21265200-21266400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:21265200-21266600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:21265400-21265600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr3:21265400-21266200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:21265400-21266600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:21265600-21266000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:21265600-21266400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr3:21266400-21266800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:21266800-21267000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:21267000-21274600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:21267600-21267800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:21267600-21268000	ZNF genes & repeats	Pancreas	Pancrea
43	chr3:21267800-21268000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:21267800-21268800	Enhancers	Fetal Lung	lung
45	chr3:21268800-21271200	Weak transcription	Fetal Lung	lung
46	chr3:21271200-21271800	Enhancers	Fetal Lung	lung
47	chr3:21274600-21274800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:21276600-21277400	Enhancers	Fetal Brain Male	brain
49	chr3:21279200-21279600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr3:21296800-21297200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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