Variant report

Variant	esv2756980
Chromosome Location	chr3:21205670-21376648
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:20553254..20553852-chr3:21257816..21258713,2	MCF-7	breast:
2	chr3:21266614..21268748-chr3:21271799..21273765,2	K562	blood:
3	chr3:20381733..20382301-chr3:21331781..21332364,2	MCF-7	breast:
4	chr3:20971297..20972149-chr3:21257804..21258756,2	MCF-7	breast:
5	chr3:21357091..21358959-chr3:21367501..21369153,2	K562	blood:
6	chr3:21205402..21208322-chr3:21209638..21211827,2	K562	blood:
7	chr3:21263124..21267489-chr3:21278004..21280410,3	K562	blood:
8	chr3:21274699..21278536-chr3:21278960..21282448,3	K562	blood:
9	chr3:21274702..21276486-chr9:12852043..12854335,2	MCF-7	breast:
10	chr3:21207950..21210850-chr3:21212178..21213928,2	K562	blood:
11	chr3:21259912..21262896-chr3:21264811..21266521,2	K562	blood:
12	chr3:21207903..21212103-chr3:21235234..21238537,4	K562	blood:
13	chr1:38156682..38159494-chr3:21306018..21307587,2	K562	blood:
14	chr3:21207903..21212103-chr3:21235234..21238537,4	K562	blood:
15	chr3:21331844..21332737-chr5:18941538..18942038,2	MCF-7	breast:
16	chr3:21207950..21210850-chr3:21212178..21213928,2	K562	blood:
17	chr3:20553366..20553898-chr3:21257700..21258348,2	MCF-7	breast:
18	chr3:21261396..21264170-chr3:21264811..21266902,2	K562	blood:
19	chr3:21302915..21304733-chr3:21307640..21309847,2	K562	blood:
20	chr3:21259912..21262896-chr3:21264811..21266521,2	K562	blood:
21	chr3:21205402..21208322-chr3:21209638..21211827,2	K562	blood:
22	chr3:21058438..21059584-chr3:21257830..21258577,6	MCF-7	breast:
23	chr3:21263124..21267489-chr3:21278004..21280410,3	K562	blood:
24	chr3:21357091..21358959-chr3:21367501..21369153,2	K562	blood:
25	chr3:21266614..21268748-chr3:21271799..21273765,2	K562	blood:
26	chr3:21274699..21278536-chr3:21278960..21282448,3	K562	blood:
27	chr3:21302915..21304733-chr3:21307640..21309847,2	K562	blood:
28	chr3:21261396..21264170-chr3:21264811..21266902,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116922	chromatin interactions
ENSG00000134690	chromatin interactions

Extended variants
information (count: 3192 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:3192 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189186093	chr3:21211026-21211027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530252132	chr3:21211074-21211075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149023459	chr3:21211081-21211082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567513203	chr3:21211101-21211102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562987839	chr3:21211169-21211170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530699059	chr3:21211192-21211193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9879464	chr3:21211317-21211318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556429986	chr3:21211371-21211372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77461531	chr3:21211381-21211382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538647723	chr3:21211491-21211492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553514526	chr3:21211571-21211572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571988818	chr3:21211608-21211609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542352646	chr3:21211620-21211621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181126038	chr3:21211662-21211663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186458824	chr3:21211663-21211664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6801720	chr3:21211720-21211721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73041871	chr3:21211733-21211734	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs6804304	chr3:21211750-21211751	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs143017257	chr3:21211767-21211768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541696146	chr3:21211785-21211786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147778491	chr3:21211792-21211793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141223741	chr3:21211793-21211794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146960326	chr3:21211810-21211811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535111918	chr3:21211813-21211814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571566481	chr3:21211824-21211825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531552198	chr3:21211915-21211916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188852404	chr3:21211916-21211917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181645402	chr3:21211959-21211960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571396990	chr3:21212008-21212009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538586981	chr3:21212027-21212028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547658132	chr3:21212105-21212106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1370116	chr3:21212133-21212134	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535807666	chr3:21212144-21212145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568632717	chr3:21212171-21212172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554261684	chr3:21212175-21212176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116746852	chr3:21212239-21212240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537129743	chr3:21212252-21212253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138068734	chr3:21212265-21212266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577358117	chr3:21212309-21212310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541407745	chr3:21212331-21212332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374065871	chr3:21212348-21212349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527686389	chr3:21212356-21212357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574895730	chr3:21212377-21212378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542209648	chr3:21212391-21212392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74686037	chr3:21212412-21212413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75656994	chr3:21212455-21212456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552623781	chr3:21212510-21212511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75268594	chr3:21212517-21212518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532328715	chr3:21212563-21212564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547521786	chr3:21212605-21212606	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:283 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21211000-21212600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:21211200-21212600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:21211400-21212600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:21211400-21212600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:21211600-21212600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:21211800-21212600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:21211800-21212600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:21212600-21213600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:21212600-21213600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:21212600-21213800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:21212600-21213800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:21212600-21213800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:21212600-21213800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:21212600-21213800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:21213800-21214000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:21213800-21214000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:21213800-21214000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:21213800-21214200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:21213800-21214200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:21213800-21214200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:21214200-21214400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:21215800-21216200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:21216000-21216600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:21216400-21216800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr3:21217200-21217800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:21217800-21219000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:21230200-21230600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:21230200-21231400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr3:21230400-21230600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:21230600-21235000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:21235000-21235200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:21235200-21235800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:21235800-21236000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:21244600-21245400	ZNF genes & repeats	Right Atrium	heart
35	chr3:21244800-21245400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:21245000-21245400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:21245000-21245400	ZNF genes & repeats	Aorta	Aorta
38	chr3:21245400-21246600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:21246600-21247000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:21250600-21251400	Enhancers	Brain Germinal Matrix	brain
41	chr3:21250600-21252600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr3:21250600-21252600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr3:21250800-21251800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr3:21251000-21251400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr3:21251000-21252000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:21251000-21252400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr3:21251200-21252200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr3:21251200-21252600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr3:21251800-21252200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr3:21252000-21252600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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