Variant report

Variant	esv1826380
Chromosome Location	chr3:20895742-20970042
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:39)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:20934088..20937595-chr3:20944729..20947553,4	K562	blood:
2	chr3:20906112..20908398-chr3:20911514..20913727,2	K562	blood:
3	chr3:20924826..20926791-chr3:20930314..20933043,2	K562	blood:
4	chr3:20924826..20928252-chr3:20930396..20934486,4	K562	blood:
5	chr3:20931106..20933009-chr3:20944076..20947005,3	K562	blood:
6	chr3:20931783..20933492-chr3:20955039..20957721,2	K562	blood:
7	chr3:20908678..20911215-chr3:20923449..20926169,2	K562	blood:
8	chr3:20771996..20774877-chr3:20941229..20943055,2	K562	blood:
9	chr3:20938239..20939830-chr3:20940082..20941902,2	K562	blood:
10	chr3:20952300..20954626-chr9:100195157..100197678,2	MCF-7	breast:
11	chr3:20934835..20936645-chr3:20951174..20953297,2	K562	blood:
12	chr3:20965735..20967990-chr3:20971658..20973714,2	K562	blood:
13	chr3:20924826..20926791-chr3:20930314..20933043,2	K562	blood:
14	chr3:20956181..20956718-chr4:134686481..134686981,2	MCF-7	breast:
15	chr3:20849581..20851162-chr3:20931039..20933755,2	K562	blood:
16	chr3:20930075..20933227-chr3:20935743..20938157,3	K562	blood:
17	chr3:20920030..20922787-chr3:20928844..20930529,2	K562	blood:
18	chr3:20933525..20935317-chr3:20937059..20939867,3	K562	blood:
19	chr3:20908678..20911215-chr3:20923449..20926169,2	K562	blood:
20	chr3:20924826..20928252-chr3:20930396..20934486,4	K562	blood:
21	chr3:20930075..20933227-chr3:20935743..20938157,3	K562	blood:
22	chr3:20931783..20933492-chr3:20955039..20957721,2	K562	blood:
23	chr3:20933305..20936072-chr3:20940427..20943910,4	K562	blood:
24	chr3:20906112..20908398-chr3:20911514..20913727,2	K562	blood:
25	chr3:20935131..20937595-chr3:20945426..20949202,4	K562	blood:
26	chr3:20931106..20933009-chr3:20944076..20947005,3	K562	blood:
27	chr3:20934088..20937595-chr3:20944729..20947553,4	K562	blood:
28	chr3:20927362..20929640-chr3:20931820..20933882,3	K562	blood:
29	chr3:20920030..20922787-chr3:20928844..20930529,2	K562	blood:
30	chr3:20934835..20936645-chr3:20951174..20953297,2	K562	blood:
31	chr3:20882544..20885504-chr3:20932592..20934686,2	K562	blood:
32	chr3:20926131..20928788-chr3:20937832..20939385,2	K562	blood:
33	chr3:20933305..20936072-chr3:20940427..20943910,4	K562	blood:
34	chr3:20926131..20928788-chr3:20937832..20939385,2	K562	blood:
35	chr3:20964849..20967779-chr3:20982374..20984223,2	MCF-7	breast:
36	chr3:20938239..20939830-chr3:20940082..20941902,2	K562	blood:
37	chr3:20935131..20937595-chr3:20945426..20949202,4	K562	blood:
38	chr3:20927362..20929640-chr3:20931820..20933882,3	K562	blood:
39	chr3:20933525..20935317-chr3:20937059..20939867,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KAT2B-9	chr3:20947004-20947099	NONHSAT088631
2	lnc-KAT2B-9	chr3:20931812-20931937	NONHSAT088631

No data

Extended variants
information (count: 1992 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1992 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6786441	chr3:20895742-20895743	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552358978	chr3:20895778-20895779	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183524765	chr3:20895788-20895789	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553090279	chr3:20895844-20895845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576322726	chr3:20895943-20895944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543031145	chr3:20895962-20895963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369215317	chr3:20895969-20895970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28452231	chr3:20896020-20896021	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528607982	chr3:20896042-20896043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114263340	chr3:20896061-20896062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71316275	chr3:20896084-20896085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71316276	chr3:20896100-20896101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374895939	chr3:20896101-20896102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71316277	chr3:20896104-20896105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200808640	chr3:20896117-20896118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373401255	chr3:20896121-20896122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71316278	chr3:20896138-20896139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371172408	chr3:20896147-20896148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71316279	chr3:20896152-20896153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs71316280	chr3:20896155-20896156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71618828	chr3:20896168-20896169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71316281	chr3:20896189-20896190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547050474	chr3:20896193-20896194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186708604	chr3:20896198-20896199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71624355	chr3:20896202-20896203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71316282	chr3:20896230-20896231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376344358	chr3:20896232-20896233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530221654	chr3:20896253-20896254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576431367	chr3:20896262-20896263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570230719	chr3:20896278-20896279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533095840	chr3:20896279-20896280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141797515	chr3:20896280-20896281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537721132	chr3:20896286-20896287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113514357	chr3:20896293-20896294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568152801	chr3:20896312-20896313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552917728	chr3:20896315-20896316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537040718	chr3:20896317-20896318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557279374	chr3:20896321-20896322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570816525	chr3:20896332-20896333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71613640	chr3:20896338-20896339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369844952	chr3:20896346-20896347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537499715	chr3:20896362-20896363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141074319	chr3:20896379-20896380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535018806	chr3:20896383-20896384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141497144	chr3:20896384-20896385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368776296	chr3:20896397-20896398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74193117	chr3:20896462-20896463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371400571	chr3:20896482-20896483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536671629	chr3:20896495-20896496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553499578	chr3:20896513-20896514	Weak transcription 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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20892200-20896200	Enhancers	HepG2	liver
2	chr3:20895000-20895800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:20895200-20895800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr3:20895200-20895800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:20895200-20896600	Enhancers	Ovary	ovary
6	chr3:20895400-20895800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:20895400-20895800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:20895600-20895800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:20895600-20899600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:20895800-20899200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:20895800-20899400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:20895800-20899400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:20895800-20899600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:20895800-20901800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:20895800-20901800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr3:20896200-20896400	Weak transcription	HepG2	liver
17	chr3:20898800-20899800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:20898800-20899800	Enhancers	NH-A	brain
19	chr3:20899200-20900600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr3:20899400-20899800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:20899400-20900400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:20899400-20900600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:20899600-20899800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr3:20899600-20900200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:20899600-20901200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr3:20899800-20901000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr3:20900000-20900600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr3:20900200-20901000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:20900400-20901600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr3:20900600-20901600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:20900600-20901600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:20900600-20901800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr3:20901000-20902000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr3:20901000-20902600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:20901200-20901600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:20901600-20902000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:20901600-20902000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr3:20901600-20902400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:20901600-20902400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr3:20901600-20902400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr3:20901600-20902800	ZNF genes & repeats	HepG2	liver
42	chr3:20901800-20902200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr3:20901800-20902400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr3:20901800-20902600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr3:20902600-20904600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:20902800-20903800	Enhancers	Liver	Liver
47	chr3:20904600-20905200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:20911200-20912600	Enhancers	Fetal Kidney	kidney
49	chr3:20911800-20912800	Enhancers	Fetal Stomach	stomach
50	chr3:20919600-20920600	Enhancers	Fetal Kidney	kidney

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