Variant report

Variant	esv3426590
Chromosome Location	chr3:21593997-21613071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:21596168-21596196	Lung_OC	lung:	n/a	n/a
2	EP300	chr3:21604621-21604629	K562	blood:	n/a	n/a
3	FOS	chr3:21603734-21604062	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr3:21603776-21604047	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr3:21603750-21604071	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr3:21603733-21604061	MCF10A-Er-Src	breast:	n/a	n/a
7	GATA3	chr3:21595333-21595540	SH-SY5Y	brain:	n/a	n/a
8	GATA3	chr3:21604097-21604159	SH-SY5Y	brain:	n/a	n/a
9	KAT2A	chr3:21600358-21600392	GM12878	blood:	n/a	n/a
10	MAFK	chr3:21606785-21606913	HepG2	liver:	n/a	n/a
11	MEF2A	chr3:21603564-21604171	SK-N-SH	brain:	n/a	n/a
12	MEF2A	chr3:21603762-21604106	K562	blood:	n/a	n/a
13	MEF2A	chr3:21603757-21604004	K562	blood:	n/a	n/a
14	MEF2A	chr3:21603576-21604114	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr3:21607801-21607921	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr3:21604453-21604645	K562	blood:	n/a	n/a
17	POLR2A	chr3:21595377-21595517	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr3:21610225-21610280	MCF10A-Er-Src	breast:	n/a	n/a
19	RFX5	chr3:21605894-21605926	K562	blood:	n/a	n/a
20	RXRA	chr3:21607786-21607933	HepG2	liver:	n/a	n/a
21	RXRA	chr3:21602224-21602413	HepG2	liver:	n/a	n/a
22	STAT3	chr3:21603780-21604067	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr3:21596014-21596036	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr3:21609703-21609869	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr3:21605605-21605714	MCF10A-Er-Src	breast:	n/a	chr3:21605647-21605658
26	STAT3	chr3:21603729-21604072	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr3:21603699-21604078	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr3:21603729-21604106	MCF10A-Er-Src	breast:	n/a	n/a
29	ZNF143	chr3:21603170-21603184	K562	blood:	n/a	n/a
30	ZNF384	chr3:21609985-21610144	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:21593555..21596291-chr3:21602038..21604298,2	K562	blood:
2	chr3:21593555..21596291-chr3:21602038..21604298,2	K562	blood:
3	chr3:21603848..21605723-chr3:21608841..21613038,5	K562	blood:
4	chr3:21603848..21605723-chr3:21608841..21613038,5	K562	blood:
5	chr3:21604223..21605998-chr3:21608773..21611314,2	K562	blood:
6	chr3:21604223..21605998-chr3:21608773..21611314,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SGOL1-3	chr3:21603411-21603587	NONHSAT088646
2	lnc-SGOL1-3	chr3:21606066-21606178	NONHSAT088646

No data

Variant related genes	Relation type
ZNF385D	TF binding region

Extended variants
information (count: 873 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:873 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538329957	chr3:21594041-21594042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550794578	chr3:21594087-21594088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184321532	chr3:21594127-21594128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373511222	chr3:21594138-21594139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564039283	chr3:21594208-21594209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556334015	chr3:21594235-21594236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188589427	chr3:21594324-21594325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544975724	chr3:21594333-21594334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560092870	chr3:21594455-21594456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145253164	chr3:21594465-21594466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533063303	chr3:21594537-21594538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540149440	chr3:21594540-21594541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546152044	chr3:21594562-21594563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562064716	chr3:21594600-21594601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555437150	chr3:21594680-21594681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149182760	chr3:21594753-21594754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181046349	chr3:21594790-21594791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371212606	chr3:21594829-21594830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3843877	chr3:21594857-21594858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551526317	chr3:21594932-21594933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561618667	chr3:21594946-21594947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566456945	chr3:21594962-21594963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533823957	chr3:21594992-21594993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549408684	chr3:21595005-21595006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567950425	chr3:21595022-21595023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369564363	chr3:21595036-21595037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538013761	chr3:21595072-21595073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556362731	chr3:21595123-21595124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571537128	chr3:21595184-21595185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146857004	chr3:21595188-21595189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553889667	chr3:21595195-21595196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373751208	chr3:21595261-21595262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12491285	chr3:21595274-21595275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs556902515	chr3:21595333-21595334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183985207	chr3:21595346-21595347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370860341	chr3:21595357-21595358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544046828	chr3:21595379-21595380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562648934	chr3:21595453-21595454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533194189	chr3:21595468-21595469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545112502	chr3:21595531-21595532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113336163	chr3:21595572-21595573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530676027	chr3:21595583-21595584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76926590	chr3:21595610-21595611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79059316	chr3:21595623-21595624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576939154	chr3:21595630-21595631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372169969	chr3:21595645-21595646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532011666	chr3:21595668-21595669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189062435	chr3:21595688-21595689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181707290	chr3:21595729-21595730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62236078	chr3:21595741-21595742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21574000-21602000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:21585000-21601600	Weak transcription	Fetal Stomach	stomach
3	chr3:21585800-21602000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:21588600-21603200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:21588600-21604600	Weak transcription	Aorta	Aorta
6	chr3:21591600-21594000	Weak transcription	Osteobl	bone
7	chr3:21593000-21606800	Weak transcription	K562	blood
8	chr3:21594400-21594600	Enhancers	Psoas Muscle	Psoas
9	chr3:21594600-21596200	Weak transcription	Psoas Muscle	Psoas
10	chr3:21596200-21596400	ZNF genes & repeats	Psoas Muscle	Psoas
11	chr3:21596400-21606800	Weak transcription	Psoas Muscle	Psoas
12	chr3:21599600-21607000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:21600600-21601600	Weak transcription	Fetal Lung	lung
14	chr3:21600800-21606800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr3:21600800-21607000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:21601600-21602200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:21601600-21602800	Strong transcription	Fetal Lung	lung
18	chr3:21601600-21603000	ZNF genes & repeats	Fetal Stomach	stomach
19	chr3:21601800-21602200	ZNF genes & repeats	Fetal Muscle Leg	muscle
20	chr3:21602000-21602400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:21602000-21603000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:21602200-21602800	Strong transcription	Fetal Muscle Leg	muscle
23	chr3:21602400-21602800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:21602400-21603000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:21602400-21603200	Enhancers	Left Ventricle	heart
26	chr3:21602400-21603200	Enhancers	Right Ventricle	heart
27	chr3:21602800-21604400	Weak transcription	Fetal Lung	lung
28	chr3:21602800-21605000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:21602800-21605000	Weak transcription	Fetal Muscle Leg	muscle
30	chr3:21603000-21603600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:21603000-21604600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:21603000-21606200	Weak transcription	Fetal Stomach	stomach
33	chr3:21603200-21603400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:21603200-21604200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:21603200-21634400	Weak transcription	Left Ventricle	heart
36	chr3:21603400-21603800	Enhancers	HSMMtube	muscle
37	chr3:21603400-21604000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:21603400-21604800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:21604000-21608200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:21604400-21605400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:21604600-21605000	Strong transcription	Aorta	Aorta
42	chr3:21604600-21606600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:21604800-21605600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:21605000-21605200	Genic enhancers	Aorta	Aorta
45	chr3:21605000-21605600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:21605000-21605600	Strong transcription	Fetal Muscle Leg	muscle
47	chr3:21605200-21605400	Strong transcription	Aorta	Aorta
48	chr3:21605400-21609000	Weak transcription	Aorta	Aorta
49	chr3:21605600-21607200	Weak transcription	Fetal Muscle Leg	muscle
50	chr3:21605600-21617400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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