Variant report

Variant	nsv589937
Chromosome Location	chr3:22207033-22255101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:119)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:119 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:22237586-22237702	A549	lung:	n/a	n/a
2	CEBPB	chr3:22252947-22253151	A549	lung:	n/a	n/a
3	CEBPB	chr3:22227764-22227995	A549	lung:	n/a	n/a
4	CTCF	chr3:22217413-22217730	GM12878	blood:	n/a	n/a
5	CTCF	chr3:22217520-22217670	HA-sp	spinal cord:	n/a	n/a
6	CTCF	chr3:22217480-22217630	HPF	lung:	n/a	n/a
7	CTCF	chr3:22217400-22217550	HCM	heart:	n/a	n/a
8	CTCF	chr3:22217500-22217650	HMF	breast:	n/a	n/a
9	CTCF	chr3:22217480-22217673	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr3:22217420-22217570	AG10803	skin:	n/a	n/a
11	CTCF	chr3:22217480-22217630	AG10803	skin:	n/a	n/a
12	CTCF	chr3:22217500-22217629	LNCaP	prostate:	n/a	n/a
13	CTCF	chr3:22217460-22217610	AG09319	gingival:	n/a	n/a
14	CTCF	chr3:22217360-22217510	HAc	cerebellar:	n/a	n/a
15	CTCF	chr3:22217540-22217690	MCF-7	breast:	n/a	n/a
16	CTCF	chr3:22217440-22217590	AG09319	gingival:	n/a	n/a
17	CTCF	chr3:22217520-22217670	HCM	heart:	n/a	n/a
18	CTCF	chr3:22217420-22217570	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr3:22217520-22217670	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr3:22217500-22217650	NHDF-neo	bronchial:	n/a	n/a
21	CTCF	chr3:22217508-22217603	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chr3:22217449-22217690	Medullo	brain:	n/a	n/a
23	CTCF	chr3:22217520-22217603	GM10248	blood:	n/a	n/a
24	CTCF	chr3:22217540-22217690	HMEC	breast:	n/a	n/a
25	CTCF	chr3:22217460-22217610	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr3:22217480-22217630	HMEC	breast:	n/a	n/a
27	CTCF	chr3:22217430-22218021	SK-N-SH	brain:	n/a	n/a
28	CTCF	chr3:22217520-22217670	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr3:22217460-22217610	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr3:22217480-22217630	AG09309	skin:	n/a	n/a
31	CTCF	chr3:22234105-22234119	GM20000	blood:	n/a	n/a
32	CTCF	chr3:22217420-22217570	NHDF-neo	bronchial:	n/a	n/a
33	CTCF	chr3:22217500-22217650	HCFaa	heart:	n/a	n/a
34	CTCF	chr3:22217487-22217639	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr3:22217513-22217627	LNCaP	prostate:	n/a	n/a
36	CTCF	chr3:22217480-22217630	RPTEC	kidney:	n/a	n/a
37	CTCF	chr3:22217500-22217650	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr3:22217503-22217581	Lung_OC	lung:	n/a	n/a
39	CTCF	chr3:22217560-22217710	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr3:22217480-22217630	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr3:22217520-22217670	HMF	breast:	n/a	n/a
42	CUX1	chr3:22214483-22214554	GM12878	blood:	n/a	n/a
43	EGR1	chr3:22208796-22208977	K562	blood:	n/a	n/a
44	EP300	chr3:22214562-22214581	GM12878	blood:	n/a	n/a
45	GATA3	chr3:22228657-22228796	SH-SY5Y	brain:	n/a	n/a
46	GATA3	chr3:22217618-22218239	SH-SY5Y	brain:	n/a	n/a
47	JUND	chr3:22213794-22213876	HepG2	liver:	n/a	chr3:22213858-22213865 chr3:22213856-22213868 chr3:22213858-22213866 chr3:22213857-22213866 chr3:22213857-22213867
48	KAP1	chr3:22211808-22212220	K562	blood:	n/a	n/a
49	MAFF	chr3:22252209-22252536	HepG2	liver:	n/a	chr3:22252379-22252397
50	MAFF	chr3:22251109-22251426	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:22218049..22218903-chr9:120895826..120896702,2	MCF-7	breast:
2	chr3:22217113..22218017-chr3:22727091..22727719,2	MCF-7	breast:
3	chr3:22202679..22204689-chr3:22233994..22235730,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SGOL1-3	chr3:22210309-22210443	NONHSAT088650
2	lnc-SGOL1-3	chr3:22210309-22210508	NONHSAT088653

No data

Variant related genes	Relation type
ZNF385D	TF binding region

Extended variants
information (count: 1578 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1578 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9310685	chr3:22207033-22207034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138737338	chr3:22207043-22207044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553147947	chr3:22207079-22207080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568603662	chr3:22207092-22207093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536134457	chr3:22207093-22207094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs80351943	chr3:22207116-22207117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575918370	chr3:22207132-22207133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76854441	chr3:22207134-22207135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113968171	chr3:22207137-22207138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142795708	chr3:22207140-22207141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571204931	chr3:22207156-22207157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540373744	chr3:22207172-22207173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561910734	chr3:22207189-22207190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115164894	chr3:22207222-22207223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533775415	chr3:22207239-22207240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181062510	chr3:22207247-22207248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147417779	chr3:22207282-22207283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533067637	chr3:22207292-22207293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552108218	chr3:22207309-22207310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375081753	chr3:22207387-22207388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113789357	chr3:22207410-22207411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528556776	chr3:22207413-22207414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9868641	chr3:22207459-22207460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185122551	chr3:22207483-22207484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191451018	chr3:22207489-22207490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536461220	chr3:22207490-22207491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557549800	chr3:22207491-22207492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79920769	chr3:22207510-22207511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556295527	chr3:22207601-22207602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540138336	chr3:22207616-22207617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557781438	chr3:22207636-22207637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367895484	chr3:22207653-22207654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111593027	chr3:22207674-22207675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182823019	chr3:22207679-22207680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62248921	chr3:22207698-22207699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7626875	chr3:22207701-22207702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs544036820	chr3:22207720-22207721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188736210	chr3:22207728-22207729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371017940	chr3:22207732-22207733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577513198	chr3:22207733-22207734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544943069	chr3:22207744-22207745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564126918	chr3:22207745-22207746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368684437	chr3:22207746-22207747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546995334	chr3:22207763-22207764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35930172	chr3:22207781-22207782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs375263590	chr3:22207813-22207814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565863863	chr3:22207878-22207879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116048151	chr3:22207923-22207924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35477698	chr3:22207965-22207966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569516032	chr3:22207999-22208000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22198800-22208000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:22201600-22209000	Weak transcription	Psoas Muscle	Psoas
3	chr3:22202400-22208600	Weak transcription	Fetal Lung	lung
4	chr3:22208000-22209400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:22208600-22209200	Strong transcription	Fetal Lung	lung
6	chr3:22208800-22209400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:22209000-22209200	ZNF genes & repeats	Pancreas	Pancrea
8	chr3:22209000-22209200	Enhancers	Psoas Muscle	Psoas
9	chr3:22209200-22218600	Weak transcription	Fetal Lung	lung
10	chr3:22209400-22210000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:22215800-22216200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:22216200-22217600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:22217600-22218200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:22217600-22218200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:22218600-22218800	Enhancers	Fetal Lung	lung
16	chr3:22219200-22222000	Weak transcription	Fetal Heart	heart
17	chr3:22236000-22236400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr3:22239000-22239200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:22240400-22241000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:22240600-22241000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:22240600-22241200	Enhancers	Fetal Lung	lung
22	chr3:22241200-22251600	Weak transcription	Fetal Lung	lung
23	chr3:22251600-22251800	Enhancers	Fetal Lung	lung

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