Variant report

Variant	esv16397
Chromosome Location	chr3:22941523-22946888
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:22941868-22942133	HepG2	liver:	n/a	chr3:22942020-22942031
2	CHD2	chr3:22943258-22943420	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr3:22943320-22943470	GM12878	blood:	n/a	n/a
4	CTCF	chr3:22943280-22943430	HRE	kidney:	n/a	n/a
5	CTCF	chr3:22943460-22943610	GM12872	blood:	n/a	n/a
6	CTCF	chr3:22943260-22943410	GM12864	blood:	n/a	n/a
7	CTCF	chr3:22943200-22943350	NHEK	skin:	n/a	n/a
8	CTCF	chr3:22943240-22943390	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr3:22943240-22943390	GM12873	blood:	n/a	n/a
10	CTCF	chr3:22945820-22945970	GM12865	blood:	n/a	n/a
11	CTCF	chr3:22943220-22943370	GM12878	blood:	n/a	n/a
12	CTCF	chr3:22943220-22943370	HCT-116	colon:	n/a	n/a
13	CTCF	chr3:22943260-22943410	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr3:22943280-22943430	A549	lung:	n/a	n/a
15	CTCF	chr3:22943220-22943370	HMEC	breast:	n/a	n/a
16	CTCF	chr3:22943340-22943490	HEK293	kidney:	n/a	n/a
17	CTCF	chr3:22943260-22943410	K562	blood:	n/a	n/a
18	CTCF	chr3:22943264-22943503	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr3:22943280-22943430	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr3:22943260-22943410	GM12872	blood:	n/a	n/a
21	CTCF	chr3:22943240-22943390	GM12866	blood:	n/a	n/a
22	CTCF	chr3:22943300-22943450	NHEK	skin:	n/a	n/a
23	CTCF	chr3:22943220-22943370	HPF	lung:	n/a	n/a
24	CTCF	chr3:22943300-22943450	HCFaa	heart:	n/a	n/a
25	CTCF	chr3:22943300-22943450	MCF-7	breast:	n/a	n/a
26	CTCF	chr3:22943240-22943390	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr3:22943240-22943390	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr3:22943240-22943390	GM12875	blood:	n/a	n/a
29	CTCF	chr3:22943280-22943430	GM12873	blood:	n/a	n/a
30	CTCF	chr3:22943240-22943390	GM06990	blood:	n/a	n/a
31	CTCF	chr3:22943240-22943390	HMF	breast:	n/a	n/a
32	CTCF	chr3:22943320-22943470	RPTEC	kidney:	n/a	n/a
33	CTCF	chr3:22943200-22943350	HPF	lung:	n/a	n/a
34	CTCF	chr3:22943240-22943390	RPTEC	kidney:	n/a	n/a
35	CTCF	chr3:22943280-22943430	GM12864	blood:	n/a	n/a
36	CTCF	chr3:22943220-22943370	GM12874	blood:	n/a	n/a
37	FAM48A	chr3:22941819-22942009	GM12878	blood:	n/a	n/a
38	FOS	chr3:22941867-22942163	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr3:22941822-22942149	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr3:22941832-22942166	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr3:22941835-22942166	MCF10A-Er-Src	breast:	n/a	n/a
42	KAP1	chr3:22943079-22943578	HEK293	kidney:	n/a	n/a
43	MXI1	chr3:22942116-22942144	HepG2	liver:	n/a	n/a
44	MYC	chr3:22945230-22945265	MCF-7	breast:	n/a	n/a
45	MYC	chr3:22943373-22943426	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr3:22943453-22943454	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr3:22945281-22945283	ProgFib	skin:	n/a	n/a
48	POLR2A	chr3:22945187-22945318	MCF-7	breast:	n/a	n/a
49	SETDB1	chr3:22943128-22943627	U2OS	brain:	n/a	n/a
50	STAT3	chr3:22941835-22942063	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:22937203..22939842-chr3:22940484..22942154,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2E2-5	chr3:22946147-22946642	NONHSAT088660
2	lnc-UBE2E2-5	chr3:22945626-22945773	NONHSAT088660

No data

Variant related genes	Relation type
RANP7	TF binding region

Extended variants
information (count: 154 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528387928	chr3:22941820-22941821	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs373478510	chr3:22941828-22941829	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs57619655	chr3:22941869-22941870	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs536345181	chr3:22941883-22941884	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs190498081	chr3:22941898-22941899	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs1355737	chr3:22941922-22941923	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs1355736	chr3:22941933-22941934	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs373350868	chr3:22941953-22941954	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs571258192	chr3:22941957-22941958	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs183432505	chr3:22941976-22941977	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs7639530	chr3:22942010-22942011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs187800979	chr3:22942028-22942029	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs550668296	chr3:22942034-22942035	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs535371861	chr3:22942044-22942045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs553579609	chr3:22942058-22942059	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs192300353	chr3:22942077-22942078	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs541548737	chr3:22942089-22942090	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs556973457	chr3:22942090-22942091	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs201531157	chr3:22942156-22942157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs149236473	chr3:22942160-22942161	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs72447599	chr3:22942161-22942162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs60009337	chr3:22942165-22942166	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs570807048	chr3:22943079-22943080	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs78107983	chr3:22943101-22943102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs569399640	chr3:22943134-22943135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs539140123	chr3:22943153-22943154	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs551943379	chr3:22943176-22943177	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs557391854	chr3:22943183-22943184	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs572609527	chr3:22943255-22943256	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs533514782	chr3:22943297-22943298	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs555082295	chr3:22943325-22943326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs549131132	chr3:22943338-22943339	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs534581667	chr3:22943342-22943343	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs573860853	chr3:22943369-22943370	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs4858462	chr3:22943370-22943371	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562700271	chr3:22943432-22943433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs530543700	chr3:22943444-22943445	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs150492472	chr3:22943506-22943507	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs1486334	chr3:22943521-22943522	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561073766	chr3:22943548-22943549	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs528613146	chr3:22943551-22943552	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs547001884	chr3:22943554-22943555	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs561968551	chr3:22943615-22943616	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs117077028	chr3:22945002-22945003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531471400	chr3:22945012-22945013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549490201	chr3:22945029-22945030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9870150	chr3:22945051-22945052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs822761	chr3:22945111-22945112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554070593	chr3:22945136-22945137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182889133	chr3:22945141-22945142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22945000-22946000	Weak transcription	Fetal Lung	lung
2	chr3:22945800-22947000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:22946000-22947200	Enhancers	Fetal Lung	lung
4	chr3:22946200-22946600	Enhancers	Primary hematopoietic stem cells	blood
5	chr3:22946400-22947000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:22946600-22946800	Enhancers	Fetal Stomach	stomach
7	chr3:22946600-22947000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:22946800-22948800	Weak transcription	Fetal Stomach	stomach

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