Variant report

Variant	nsv964618
Chromosome Location	chr22:29833351-29836403
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:429)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:29834556-29834610	Lung_OC	lung:	n/a	n/a
2	CTCF	chr22:29833658-29833700	MCF-7	breast:	n/a	n/a
3	EP300	chr22:29833412-29833652	SK-N-SH_RA	brain:	n/a	n/a
4	POLR2A	chr22:29834912-29835003	MCF-7	breast:	n/a	n/a

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29834657-29834707	HCPEpiC	choroid plexus:	n/a
2	chr22:29834420-29834470	HRCEpiC	kidney:	n/a
3	chr22:29834657-29834707	HCPEpiC	choroid plexus:	n/a
4	chr22:29834420-29834470	HRCEpiC	kidney:	n/a
5	chr22:29834550-29834600	ProgFib	skin:	n/a
6	chr22:29834550-29834600	HCPEpiC	choroid plexus:	n/a
7	chr22:29834550-29834600	AG10803	skin:	n/a
8	chr22:29834388-29834438	NH-A	brain:	n/a
9	chr22:29834657-29834707	PFSK-1	brain:	n/a
10	chr22:29834550-29834600	RPTEC	kidney:	n/a
11	chr22:29833658-29833708	HUVEC	blood vessel:	n/a
12	chr22:29834420-29834470	Jurkat	blood:	n/a
13	chr22:29833804-29833854	CMK	blood:	n/a
14	chr22:29833804-29833854	HCT-116	colon:	n/a
15	chr22:29833658-29833708	CMK	blood:	n/a
16	chr22:29834697-29834747	NB4	blood:	n/a
17	chr22:29834420-29834470	ECC-1	luminal epithelium:	n/a
18	chr22:29833804-29833854	HUVEC	blood vessel:	n/a
19	chr22:29833658-29833708	GM06990	blood:	n/a
20	chr22:29833804-29833854	HEEpiC	esophagus:	n/a
21	chr22:29834697-29834747	GM12878	blood:	n/a
22	chr22:29834697-29834747	CMK	blood:	n/a
23	chr22:29834697-29834747	HRCEpiC	kidney:	n/a
24	chr22:29834550-29834600	SKMC	muscle:	n/a
25	chr22:29834657-29834707	AG04449	skin:	fetal
26	chr22:29834388-29834438	HCT-116	colon:	n/a
27	chr22:29834657-29834707	CMK	blood:	n/a
28	chr22:29834420-29834470	MCF-7	breast:	n/a
29	chr22:29834697-29834747	PrEC	prostate:	n/a
30	chr22:29834420-29834470	GM12878	blood:	n/a
31	chr22:29834420-29834470	HepG2	liver:	n/a
32	chr22:29834420-29834470	AG10803	skin:	n/a
33	chr22:29834697-29834747	SAEC	small airway:	n/a
34	chr22:29834550-29834600	PANC-1	pancreas:	n/a
35	chr22:29834657-29834707	HRPEpiC	eye:	n/a
36	chr22:29834657-29834707	H1-hESC	embryonic stem cell:	embryo
37	chr22:29834420-29834470	SK-N-SH	brain:	n/a
38	chr22:29834388-29834438	ovcar-3	ovarian:	n/a
39	chr22:29834388-29834438	HCPEpiC	choroid plexus:	n/a
40	chr22:29834697-29834747	HIPEpiC	eye:	n/a
41	chr22:29834657-29834707	GM12892	blood:	n/a
42	chr22:29833804-29833854	GM06990	blood:	n/a
43	chr22:29833804-29833854	HCPEpiC	choroid plexus:	n/a
44	chr22:29834657-29834707	NHDF-neo	bronchial:	n/a
45	chr22:29834420-29834470	ovcar-3	ovarian:	n/a
46	chr22:29833804-29833854	LNCaP	prostate:	n/a
47	chr22:29833658-29833708	Jurkat	blood:	n/a
48	chr22:29833658-29833708	HRPEpiC	eye:	n/a
49	chr22:29834420-29834470	AG09309	skin:	n/a
50	chr22:29834657-29834707	Jurkat	blood:	n/a

No data

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP1B1-1	chr22:29833007-29838118	NONHSAT084703
2	lnc-AP1B1-1	chr22:29833004-29838118	NONHSAT084701
3	lnc-AP1B1-1	chr22:29832818-29838118	ENSG00000225465.6
4	lnc-AP1B1-1	chr22:29832818-29838118	NONHSAT084700
5	lnc-AP1B1-1	chr22:29833007-29838118	NONHSAT084702
6	lnc-AP1B1-1	chr22:29833006-29838118	ENSG00000225465.4
7	lnc-AP1B1-1	chr22:29833016-29838118	NONHSAT084704

No data

Variant related genes	Relation type
RFPL1	TF binding region
RFPL1	CpG island

Extended variants
information (count: 149 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186891716	chr22:29833352-29833353	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs190088281	chr22:29833426-29833427	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs530599899	chr22:29833467-29833468	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs71329487	chr22:29833469-29833470	Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571825899	chr22:29833507-29833508	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs542353700	chr22:29833538-29833539	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs141698218	chr22:29833546-29833547	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs548071341	chr22:29833584-29833585	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs565989722	chr22:29833608-29833609	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs174718	chr22:29833639-29833640	Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554523541	chr22:29833658-29833659	Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs199788483	chr22:29833659-29833660	Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs537165751	chr22:29833673-29833674	Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs181183010	chr22:29833675-29833676	Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs185623576	chr22:29833691-29833692	Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs573462176	chr22:29833732-29833733	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs561999472	chr22:29833733-29833734	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs541156584	chr22:29833736-29833737	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs201815551	chr22:29833751-29833752	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs117525765	chr22:29833782-29833783	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs562182728	chr22:29833798-29833799	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs574780525	chr22:29833801-29833802	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs367933717	chr22:29833805-29833806	Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs9625799	chr22:29833832-29833833	Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs147060264	chr22:29833885-29833886	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs373049252	chr22:29833942-29833943	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs3044138	chr22:29833943-29833944	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs199991729	chr22:29833955-29833956	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs12167345	chr22:29833964-29833965	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs563256862	chr22:29833989-29833990	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs200775361	chr22:29834008-29834009	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs368054662	chr22:29834014-29834015	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs201606516	chr22:29834022-29834023	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs530483179	chr22:29834064-29834065	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs58248313	chr22:29834086-29834087	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs545902501	chr22:29834120-29834121	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs189553172	chr22:29834121-29834122	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs545153990	chr22:29834138-29834139	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs532746540	chr22:29834153-29834154	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs547663700	chr22:29834159-29834160	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs377346559	chr22:29834169-29834170	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs75770897	chr22:29834171-29834172	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs66973674	chr22:29834189-29834190	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs559650711	chr22:29834202-29834203	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs375469144	chr22:29834212-29834213	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs565199717	chr22:29834220-29834221	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs1132394	chr22:29834257-29834258	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs182210020	chr22:29834317-29834318	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs187079186	chr22:29834341-29834342	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs56355388	chr22:29834364-29834365	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29831400-29849800	Weak transcription	Fetal Intestine Small	intestine
2	chr22:29834200-29850200	Weak transcription	Ovary	ovary
3	chr22:29834600-29836600	Weak transcription	Brain Anterior Caudate	brain
4	chr22:29835400-29836000	Weak transcription	Fetal Brain Female	brain
5	chr22:29835600-29839000	Weak transcription	Brain Hippocampus Middle	brain
6	chr22:29835800-29836000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:29836000-29836200	Enhancers	Fetal Brain Female	brain
8	chr22:29836000-29836600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:29836000-29839400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:29836000-29859400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:29836200-29863200	Weak transcription	Fetal Brain Female	brain

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