Variant report

Variant	esv2755388
Chromosome Location	chr3:21201668-21343596
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:20553366..20553898-chr3:21257700..21258348,2	MCF-7	breast:
2	chr3:21205402..21208322-chr3:21209638..21211827,2	K562	blood:
3	chr3:21274699..21278536-chr3:21278960..21282448,3	K562	blood:
4	chr3:21263124..21267489-chr3:21278004..21280410,3	K562	blood:
5	chr3:21207950..21210850-chr3:21212178..21213928,2	K562	blood:
6	chr3:21274699..21278536-chr3:21278960..21282448,3	K562	blood:
7	chr3:21259912..21262896-chr3:21264811..21266521,2	K562	blood:
8	chr1:38156682..38159494-chr3:21306018..21307587,2	K562	blood:
9	chr3:21194222..21197075-chr3:21200094..21202897,2	K562	blood:
10	chr3:21302915..21304733-chr3:21307640..21309847,2	K562	blood:
11	chr3:21259912..21262896-chr3:21264811..21266521,2	K562	blood:
12	chr3:21205402..21208322-chr3:21209638..21211827,2	K562	blood:
13	chr3:21266614..21268748-chr3:21271799..21273765,2	K562	blood:
14	chr3:21302915..21304733-chr3:21307640..21309847,2	K562	blood:
15	chr3:21261396..21264170-chr3:21264811..21266902,2	K562	blood:
16	chr3:21261396..21264170-chr3:21264811..21266902,2	K562	blood:
17	chr3:21266614..21268748-chr3:21271799..21273765,2	K562	blood:
18	chr3:20553254..20553852-chr3:21257816..21258713,2	MCF-7	breast:
19	chr3:21207950..21210850-chr3:21212178..21213928,2	K562	blood:
20	chr3:20971297..20972149-chr3:21257804..21258756,2	MCF-7	breast:
21	chr3:21331844..21332737-chr5:18941538..18942038,2	MCF-7	breast:
22	chr3:21207903..21212103-chr3:21235234..21238537,4	K562	blood:
23	chr3:20381733..20382301-chr3:21331781..21332364,2	MCF-7	breast:
24	chr3:21207903..21212103-chr3:21235234..21238537,4	K562	blood:
25	chr3:21058438..21059584-chr3:21257830..21258577,6	MCF-7	breast:
26	chr3:21274702..21276486-chr9:12852043..12854335,2	MCF-7	breast:
27	chr3:21263124..21267489-chr3:21278004..21280410,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134690	chromatin interactions
ENSG00000116922	chromatin interactions

Extended variants
information (count: 2651 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2651 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1436826	chr3:21201668-21201669	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539573870	chr3:21201686-21201687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551479309	chr3:21201707-21201708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567115625	chr3:21201713-21201714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183749647	chr3:21201739-21201740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138488091	chr3:21201766-21201767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189178260	chr3:21201824-21201825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529017442	chr3:21201850-21201851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141465142	chr3:21201854-21201855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577601846	chr3:21201857-21201858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192257927	chr3:21201908-21201909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375172455	chr3:21201963-21201964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142819475	chr3:21201970-21201971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545128293	chr3:21202056-21202057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373849258	chr3:21202075-21202076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183767270	chr3:21202082-21202083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150291658	chr3:21202112-21202113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368793982	chr3:21202128-21202129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35989100	chr3:21202131-21202132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376817001	chr3:21202134-21202135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562495979	chr3:21202135-21202136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74896957	chr3:21202139-21202140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551542638	chr3:21202143-21202144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537065911	chr3:21202155-21202156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534549997	chr3:21202170-21202171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554870115	chr3:21202184-21202185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191492864	chr3:21202190-21202191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184042876	chr3:21202254-21202255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189877299	chr3:21202261-21202262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145075177	chr3:21202264-21202265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182083281	chr3:21202268-21202269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538566303	chr3:21202347-21202348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372671124	chr3:21202421-21202422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185492719	chr3:21202451-21202452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571357496	chr3:21202477-21202478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538605574	chr3:21202478-21202479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190790311	chr3:21202570-21202571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572473685	chr3:21202583-21202584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180858668	chr3:21202594-21202595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73821023	chr3:21202877-21202878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548791730	chr3:21202979-21202980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568383874	chr3:21202992-21202993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189186093	chr3:21211026-21211027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530252132	chr3:21211074-21211075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149023459	chr3:21211081-21211082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567513203	chr3:21211101-21211102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562987839	chr3:21211169-21211170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530699059	chr3:21211192-21211193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9879464	chr3:21211317-21211318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556429986	chr3:21211371-21211372	Enhancers	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:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21200400-21201800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:21200800-21201800	Enhancers	NHDF-Ad	bronchial
3	chr3:21201600-21202600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:21202800-21203000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:21211000-21212600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:21211200-21212600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:21211400-21212600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:21211400-21212600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr3:21211600-21212600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr3:21211800-21212600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:21211800-21212600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:21212600-21213600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:21212600-21213600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:21212600-21213800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:21212600-21213800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:21212600-21213800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:21212600-21213800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:21212600-21213800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:21213800-21214000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:21213800-21214000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:21213800-21214000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:21213800-21214200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:21213800-21214200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:21213800-21214200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:21214200-21214400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr3:21215800-21216200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:21216000-21216600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:21216400-21216800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr3:21217200-21217800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:21217800-21219000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:21230200-21230600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr3:21230200-21231400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:21230400-21230600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:21230600-21235000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:21235000-21235200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:21235200-21235800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:21235800-21236000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr3:21244600-21245400	ZNF genes & repeats	Right Atrium	heart
39	chr3:21244800-21245400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:21245000-21245400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:21245000-21245400	ZNF genes & repeats	Aorta	Aorta
42	chr3:21245400-21246600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:21246600-21247000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr3:21250600-21251400	Enhancers	Brain Germinal Matrix	brain
45	chr3:21250600-21252600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr3:21250600-21252600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr3:21250800-21251800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr3:21251000-21251400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr3:21251000-21252000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:21251000-21252400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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