Variant report

Variant	esv3366248
Chromosome Location	chr22:30443364-30448009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr22:30444774-30445059	HepG2	liver:	n/a	chr22:30444923-30444936 chr22:30444923-30444934 chr22:30444925-30444936
2	CEBPB	chr22:30444765-30445078	IMR90	lung:	n/a	chr22:30444923-30444936 chr22:30444923-30444934 chr22:30444925-30444936
3	CTCF	chr22:30443464-30443572	GM12878	blood:	n/a	n/a
4	CTCF	chr22:30443460-30443610	NHLF	lung:	n/a	n/a
5	CTCF	chr22:30443477-30443538	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr22:30443420-30443570	NB4	blood:	n/a	n/a
7	CTCF	chr22:30443420-30443570	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr22:30447475-30447590	Medullo	brain:	n/a	n/a
9	CTCF	chr22:30443400-30443550	HL-60	blood:	n/a	n/a
10	CTCF	chr22:30443480-30443630	HCPEpiC	choroid plexus:	n/a	n/a
11	CTCF	chr22:30443420-30443570	GM12875	blood:	n/a	n/a
12	CTCF	chr22:30443480-30443630	HA-sp	spinal cord:	n/a	n/a
13	CTCF	chr22:30443482-30443574	GM12891	blood:	n/a	n/a
14	CTCF	chr22:30445600-30445750	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr22:30443420-30443570	HCM	heart:	n/a	n/a
16	CTCF	chr22:30443520-30443670	GM12873	blood:	n/a	n/a
17	CTCF	chr22:30443420-30443570	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr22:30443500-30443650	NHDF-neo	bronchial:	n/a	n/a
19	CTCF	chr22:30443400-30443550	HepG2	liver:	n/a	n/a
20	CTCF	chr22:30443490-30443539	MCF-7	breast:	n/a	n/a
21	CTCF	chr22:30443380-30443530	AG04450	lung:	n/a	n/a
22	CTCF	chr22:30443420-30443570	HepG2	liver:	n/a	n/a
23	CTCF	chr22:30443360-30443510	GM12869	blood:	n/a	n/a
24	CTCF	chr22:30443488-30443561	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr22:30443460-30443552	HepG2	liver:	n/a	n/a
26	CTCF	chr22:30443440-30443590	GM12873	blood:	n/a	n/a
27	CTCF	chr22:30443438-30443564	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr22:30445520-30445670	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr22:30443458-30443598	NHEK	skin:	n/a	n/a
30	CTCF	chr22:30443486-30443566	MCF-7	breast:	n/a	n/a
31	CTCF	chr22:30445540-30445690	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr22:30443485-30443627	Lung_OC	lung:	n/a	n/a
33	CTCF	chr22:30443500-30443650	GM12871	blood:	n/a	n/a
34	CTCF	chr22:30443453-30443589	K562	blood:	n/a	n/a
35	CTCF	chr22:30443400-30443690	GM12868	blood:	n/a	n/a
36	CTCF	chr22:30443420-30443586	GM12878	blood:	n/a	n/a
37	E2F6	chr22:30443413-30443600	K562	blood:	n/a	n/a
38	ELF1	chr22:30443363-30443717	K562	blood:	n/a	chr22:30443566-30443579
39	GABPA	chr22:30443410-30443686	K562	blood:	n/a	n/a
40	HCFC1	chr22:30443378-30443760	K562	blood:	n/a	n/a
41	IRF1	chr22:30443083-30443723	K562	blood:	n/a	n/a
42	IRF1	chr22:30443285-30443689	K562	blood:	n/a	n/a
43	IRF1	chr22:30443358-30443677	K562	blood:	n/a	n/a
44	MAX	chr22:30443492-30443554	NB4	blood:	n/a	n/a
45	NFYB	chr22:30443449-30443650	GM12878	blood:	n/a	n/a
46	POLR2A	chr22:30444309-30444317	GM12878	blood:	n/a	n/a
47	POLR2A	chr22:30444334-30444416	GM12878	blood:	n/a	n/a
48	STAT3	chr22:30444775-30444975	MCF10A-Er-Src	breast:	n/a	n/a
49	ZNF143	chr22:30443594-30443663	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30438959..30441360-chr22:30444490..30446436,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LIF-2	chr22:30446450-30446578	NONHSAT084754
2	lnc-LIF-2	chr22:30446450-30446578	ENSG00000227117.2
3	lnc-LIF-2	chr22:30446450-30446578	NR_110541
4	lnc-LIF-2	chr22:30446450-30446578	ENSG00000227117.2
5	lnc-LIF-2	chr22:30446450-30446578	NONHSAT084746
6	lnc-LIF-2	chr22:30443614-30443900	ENSG00000227117.2
7	lnc-LIF-2	chr22:30446450-30446578	NONHSAT084756
8	lnc-LIF-2	chr22:30443853-30443900	NONHSAT084756
9	lnc-LIF-2	chr22:30446450-30446578	ENSG00000227117.2

No data

Variant related genes	Relation type
CNN2P1	TF binding region

Extended variants
information (count: 138 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183279221	chr22:30443413-30443414	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs561708768	chr22:30443435-30443436	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530997822	chr22:30443464-30443465	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs111266883	chr22:30443466-30443467	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs187217310	chr22:30443537-30443538	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs192282771	chr22:30443611-30443612	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs562437963	chr22:30443641-30443642	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs562046720	chr22:30443735-30443736	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs533193560	chr22:30443762-30443763	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs141015749	chr22:30443768-30443769	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs372097344	chr22:30443780-30443781	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs560220604	chr22:30443789-30443790	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs184705101	chr22:30443843-30443844	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs188400608	chr22:30443870-30443871	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs549009116	chr22:30443878-30443879	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs192233001	chr22:30443960-30443961	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs118181525	chr22:30443964-30443965	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs551338855	chr22:30444000-30444001	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs569436020	chr22:30444048-30444049	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs9614135	chr22:30444058-30444059	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs184328637	chr22:30444076-30444077	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs558044407	chr22:30444107-30444108	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs77678274	chr22:30444120-30444121	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs73400633	chr22:30444173-30444174	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs533993505	chr22:30444358-30444359	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs555342073	chr22:30444372-30444373	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs573743172	chr22:30444417-30444418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112471591	chr22:30444424-30444425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181793561	chr22:30444436-30444437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547586298	chr22:30444443-30444444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545205063	chr22:30444475-30444476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184917440	chr22:30444509-30444510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189043300	chr22:30444526-30444527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76159339	chr22:30444588-30444589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542792403	chr22:30444599-30444600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560957088	chr22:30444606-30444607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182124810	chr22:30444630-30444631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113963538	chr22:30444794-30444795	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs569558241	chr22:30444837-30444838	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs533422049	chr22:30444838-30444839	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs551957319	chr22:30444853-30444854	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs566903214	chr22:30444884-30444885	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs564568264	chr22:30444912-30444913	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs532657559	chr22:30444922-30444923	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs534121243	chr22:30444937-30444938	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs555479622	chr22:30444954-30444955	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs372081320	chr22:30444964-30444965	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs552750164	chr22:30444981-30444982	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs138909531	chr22:30445008-30445009	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs556109662	chr22:30445058-30445059	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
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
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30423600-30447600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:30430200-30449600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:30435000-30450600	Weak transcription	Gastric	stomach
4	chr22:30437000-30443400	Weak transcription	Esophagus	oesophagus
5	chr22:30438200-30448200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:30440800-30444400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr22:30441000-30444400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:30441200-30443400	Weak transcription	Liver	Liver
9	chr22:30441200-30444600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr22:30441400-30450600	Weak transcription	Adipose Nuclei	Adipose
11	chr22:30441600-30443400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr22:30441600-30443400	Weak transcription	Fetal Muscle Leg	muscle
13	chr22:30441800-30443400	Weak transcription	Fetal Intestine Large	intestine
14	chr22:30442200-30443800	Weak transcription	Stomach Mucosa	stomach
15	chr22:30442800-30443400	Enhancers	GM12878-XiMat	blood
16	chr22:30442800-30443600	Enhancers	Spleen	Spleen
17	chr22:30442800-30443800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr22:30442800-30443800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:30443000-30443400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr22:30443000-30443400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr22:30443000-30443400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr22:30443000-30443600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr22:30443000-30443600	Enhancers	Thymus	Thymus
24	chr22:30443000-30443600	Active TSS	K562	blood
25	chr22:30443000-30443800	Enhancers	Primary B cells from peripheral blood	blood
26	chr22:30443000-30443800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr22:30443000-30443800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr22:30443000-30443800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr22:30443000-30444000	Enhancers	Fetal Thymus	thymus
30	chr22:30443000-30444200	Flanking Active TSS	Dnd41	blood
31	chr22:30443000-30444800	Enhancers	Fetal Intestine Small	intestine
32	chr22:30443000-30446800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:30443000-30449400	Weak transcription	HepG2	liver
34	chr22:30443200-30443400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr22:30443200-30443600	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr22:30443200-30443800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr22:30443200-30443800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr22:30443400-30443600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr22:30443400-30443600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr22:30443400-30443600	Active TSS	Duodenum Mucosa	Duodenum
41	chr22:30443400-30443600	Enhancers	Esophagus	oesophagus
42	chr22:30443400-30443600	Enhancers	Fetal Muscle Leg	muscle
43	chr22:30443400-30443800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr22:30443400-30443800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr22:30443400-30443800	Enhancers	Liver	Liver
46	chr22:30443400-30443800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr22:30443400-30444200	Enhancers	Fetal Intestine Large	intestine
48	chr22:30443400-30445000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:30443600-30443800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr22:30443600-30443800	Enhancers	Primary T helper cells PMA-I stimulated	--

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