Variant report

Variant	nsv979667
Chromosome Location	chr22:29837307-29837926
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:29837885-29837943	GM13976	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29837794-29837844	HRPEpiC	eye:	n/a
2	chr22:29837794-29837844	ovcar-3	ovarian:	n/a
3	chr22:29837794-29837844	Hela-S3	cervix:	n/a
4	chr22:29837794-29837844	HCPEpiC	choroid plexus:	n/a
5	chr22:29837794-29837844	ECC-1	luminal epithelium:	n/a
6	chr22:29837794-29837844	A549	lung:	n/a
7	chr22:29837794-29837844	HL-60	blood:	n/a
8	chr22:29837794-29837844	AG04450	lung:	fetal
9	chr22:29837794-29837844	LNCaP	prostate:	n/a
10	chr22:29837794-29837844	NHDF-neo	bronchial:	n/a
11	chr22:29837794-29837844	HMEC	breast:	n/a
12	chr22:29837794-29837844	MCF10A-Er-Src	breast:	n/a
13	chr22:29837794-29837844	HPAEpiC	pulmonary alveolar:	n/a
14	chr22:29837794-29837844	AoSMC	blood vessel:	n/a
15	chr22:29837794-29837844	SAEC	small airway:	n/a
16	chr22:29837794-29837844	AG09309	skin:	n/a
17	chr22:29837794-29837844	HEEpiC	esophagus:	n/a
18	chr22:29837794-29837844	HCT-116	colon:	n/a
19	chr22:29837794-29837844	BJ	skin:	n/a
20	chr22:29837794-29837844	T-47D	breast:	n/a
21	chr22:29837794-29837844	NH-A	brain:	n/a
22	chr22:29837794-29837844	SK-N-SH_RA	brain:	n/a
23	chr22:29837794-29837844	GM19239	blood:	n/a
24	chr22:29837794-29837844	HUVEC	blood vessel:	n/a
25	chr22:29837794-29837844	HCM	heart:	n/a
26	chr22:29837794-29837844	HCF	heart:	n/a
27	chr22:29837794-29837844	NB4	blood:	n/a
28	chr22:29837794-29837844	CMK	blood:	n/a
29	chr22:29837794-29837844	H1-hESC	embryonic stem cell:	embryo
30	chr22:29837794-29837844	PrEC	prostate:	n/a
31	chr22:29837794-29837844	AG10803	skin:	n/a
32	chr22:29837794-29837844	SK-N-MC	brain:	n/a
33	chr22:29837794-29837844	PANC-1	pancreas:	n/a
34	chr22:29837794-29837844	HNPCEpiC	eye:	n/a
35	chr22:29837794-29837844	HAEpiC	amniotic membrane:	n/a
36	chr22:29837794-29837844	Jurkat	blood:	n/a
37	chr22:29837794-29837844	SK-N-SH	brain:	n/a
38	chr22:29837794-29837844	ProgFib	skin:	n/a
39	chr22:29837794-29837844	GM12892	blood:	n/a
40	chr22:29837794-29837844	Hepatocyte	liver:	n/a
41	chr22:29837794-29837844	SKMC	muscle:	n/a
42	chr22:29837794-29837844	NHBE	bronchial:	n/a
43	chr22:29837794-29837844	HRE	kidney:	n/a
44	chr22:29837794-29837844	IMR90	lung:	fetal
45	chr22:29837794-29837844	BE2_C	brain:	n/a
46	chr22:29837794-29837844	HepG2	liver:	n/a
47	chr22:29837794-29837844	HRCEpiC	kidney:	n/a
48	chr22:29837794-29837844	AG09319	gingival:	n/a
49	chr22:29837794-29837844	RPTEC	kidney:	n/a
50	chr22:29837794-29837844	Caco-2	colon:	n/a

No data

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP1B1-1	chr22:29832818-29838118	NONHSAT084700
2	lnc-AP1B1-1	chr22:29837564-29838118	NONHSAT084706
3	lnc-AP1B1-1	chr22:29832818-29838118	ENSG00000225465.6
4	lnc-AP1B1-1	chr22:29833007-29838118	NONHSAT084703
5	lnc-AP1B1-1	chr22:29833004-29838118	NONHSAT084701
6	lnc-AP1B1-1	chr22:29837244-29837827	ENSG00000225465.4
7	lnc-AP1B1-1	chr22:29833016-29838118	NONHSAT084704
8	lnc-AP1B1-1	chr22:29833006-29838118	ENSG00000225465.4
9	lnc-AP1B1-1	chr22:29833007-29838118	NONHSAT084702

No data

Variant related genes	Relation type
RFPL1S	TF binding region
RFPL1S	CpG island

Extended variants
information (count: 42 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531245500	chr22:29837378-29837379	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs113035887	chr22:29837485-29837486	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs3804076	chr22:29837537-29837538	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs571279619	chr22:29837540-29837541	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs372400572	chr22:29837550-29837551	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs71324764	chr22:29837567-29837568	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs79401928	chr22:29837569-29837570	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs397745673	chr22:29837572-29837573	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs10211999	chr22:29837583-29837584	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs16987628	chr22:29837599-29837600	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs143498009	chr22:29837607-29837608	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs567075255	chr22:29837617-29837618	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs60550593	chr22:29837638-29837639	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs148461269	chr22:29837647-29837648	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs373256620	chr22:29837649-29837650	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs556139209	chr22:29837677-29837678	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs371079248	chr22:29837678-29837679	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs142632131	chr22:29837692-29837693	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs150980053	chr22:29837693-29837694	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs200883191	chr22:29837698-29837699	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs140801070	chr22:29837702-29837703	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs577925684	chr22:29837713-29837714	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs374370867	chr22:29837732-29837733	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs149680066	chr22:29837738-29837739	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs147773965	chr22:29837757-29837758	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs199689739	chr22:29837787-29837788	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs368609774	chr22:29837789-29837790	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs141088038	chr22:29837830-29837831	Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs371158882	chr22:29837831-29837832	Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs61735697	chr22:29837843-29837844	Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs542404003	chr22:29837846-29837847	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs61734564	chr22:29837847-29837848	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs560892547	chr22:29837852-29837853	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs371458794	chr22:29837859-29837860	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs374628350	chr22:29837867-29837868	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs531609185	chr22:29837877-29837878	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs146909637	chr22:29837879-29837880	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs139375110	chr22:29837880-29837881	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs368152087	chr22:29837883-29837884	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs12484086	chr22:29837884-29837885	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs144870869	chr22:29837888-29837889	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs200128421	chr22:29837915-29837916	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	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:9 , 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	chr22:29835600-29839000	Weak transcription	Brain Hippocampus Middle	brain
4	chr22:29836000-29839400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:29836000-29859400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr22:29836200-29863200	Weak transcription	Fetal Brain Female	brain
7	chr22:29836600-29866000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr22:29836800-29840200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:29836800-29841200	Weak transcription	Brain Anterior Caudate	brain

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