Variant report

Variant	nsv914982
Chromosome Location	chr22:33512743-33558767
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:247)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:247 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:33526447-33526746	HepG2	liver:	n/a	n/a
2	BACH1	chr22:33515097-33515341	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr22:33515084-33515360	K562	blood:	n/a	n/a
4	CEBPB	chr22:33526357-33526773	HepG2	liver:	n/a	n/a
5	CEBPB	chr22:33526487-33526752	MCF-7	breast:	n/a	n/a
6	CEBPB	chr22:33540560-33540652	HepG2	liver:	n/a	chr22:33540585-33540596
7	CEBPB	chr22:33540557-33540703	IMR90	lung:	n/a	chr22:33540585-33540596
8	CEBPB	chr22:33526397-33526773	HepG2	liver:	n/a	n/a
9	CEBPB	chr22:33526476-33526683	HepG2	liver:	n/a	n/a
10	CEBPB	chr22:33526389-33526772	HepG2	liver:	n/a	n/a
11	CEBPB	chr22:33544314-33544492	HepG2	liver:	n/a	chr22:33544403-33544414
12	CTCF	chr22:33523000-33523150	SAEC	small airway:	n/a	n/a
13	CTCF	chr22:33518486-33518633	GM12891	blood:	n/a	n/a
14	CTCF	chr22:33518520-33518670	RPTEC	kidney:	n/a	n/a
15	CTCF	chr22:33518500-33518650	GM12866	blood:	n/a	n/a
16	CTCF	chr22:33522920-33523190	HMEC	breast:	n/a	n/a
17	CTCF	chr22:33522900-33523050	BE2_C	brain:	n/a	n/a
18	CTCF	chr22:33522960-33523110	NHEK	skin:	n/a	n/a
19	CTCF	chr22:33523047-33523129	MCF-7	breast:	n/a	n/a
20	CTCF	chr22:33518481-33518633	ProgFib	skin:	n/a	n/a
21	CTCF	chr22:33518500-33518650	A549	lung:	n/a	n/a
22	CTCF	chr22:33518500-33518650	GM12872	blood:	n/a	n/a
23	CTCF	chr22:33518500-33518650	HCT-116	colon:	n/a	n/a
24	CTCF	chr22:33523000-33523150	GM06990	blood:	n/a	n/a
25	CTCF	chr22:33518563-33518587	GM19238	blood:	n/a	n/a
26	CTCF	chr22:33522860-33523010	GM12865	blood:	n/a	n/a
27	CTCF	chr22:33518460-33518610	AG04449	skin:	n/a	n/a
28	CTCF	chr22:33522947-33523203	MCF-7	breast:	n/a	n/a
29	CTCF	chr22:33518600-33518750	HPF	lung:	n/a	n/a
30	CTCF	chr22:33522873-33523329	A549	lung:	n/a	n/a
31	CTCF	chr22:33518495-33518633	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr22:33523020-33523170	Caco-2	colon:	n/a	n/a
33	CTCF	chr22:33523000-33523150	HMF	breast:	n/a	n/a
34	CTCF	chr22:33522985-33523164	HepG2	liver:	n/a	n/a
35	CTCF	chr22:33518520-33518670	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr22:33522968-33523198	MCF-7	breast:	n/a	n/a
37	CTCF	chr22:33523020-33523170	NHDF-neo	bronchial:	n/a	n/a
38	CTCF	chr22:33518483-33518633	GM19239	blood:	n/a	n/a
39	CTCF	chr22:33518522-33518632	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chr22:33522980-33523130	AG09319	gingival:	n/a	n/a
41	CTCF	chr22:33522940-33523090	RPTEC	kidney:	n/a	n/a
42	CTCF	chr22:33518580-33518730	RPTEC	kidney:	n/a	n/a
43	CTCF	chr22:33518504-33518632	HepG2	liver:	n/a	n/a
44	CTCF	chr22:33522940-33523090	HRE	kidney:	n/a	n/a
45	CTCF	chr22:33522960-33523110	RPTEC	kidney:	n/a	n/a
46	CTCF	chr22:33522835-33523291	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr22:33522960-33523110	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr22:33522900-33523099	A549	lung:	n/a	n/a
49	CTCF	chr22:33518500-33518650	NHLF	lung:	n/a	n/a
50	CTCF	chr22:33522980-33523130	HRE	kidney:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:33476134..33476743-chr22:33546203..33547172,2	MCF-7	breast:
2	chr22:33413852..33414538-chr22:33522698..33523447,2	MCF-7	breast:
3	chr22:33450128..33453064-chr22:33538436..33541136,2	MCF-7	breast:
4	chr22:33537311..33539438-chr22:33543195..33545411,2	MCF-7	breast:
5	chr22:33537311..33539438-chr22:33543195..33545411,2	MCF-7	breast:
6	chr22:33413946..33415146-chr22:33522626..33523535,7	MCF-7	breast:
7	chr22:33415174..33415963-chr22:33522795..33523548,2	MCF-7	breast:
8	chr22:33522918..33523562-chr22:33598932..33599460,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233632	TF binding region
ENSG00000232073	TF binding region

Extended variants
information (count: 617 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:617 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16991802	chr22:33512743-33512744	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539159723	chr22:33512791-33512792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370538216	chr22:33512826-33512827	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs16991804	chr22:33512833-33512834	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189749177	chr22:33512946-33512947	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554115580	chr22:33512947-33512948	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181140803	chr22:33512955-33512956	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185181655	chr22:33512998-33512999	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115823258	chr22:33513004-33513005	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13055063	chr22:33513026-33513027	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531289395	chr22:33513069-33513070	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13054205	chr22:33513085-33513086	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs78383533	chr22:33513122-33513123	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188230406	chr22:33513142-33513143	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180712825	chr22:33513148-33513149	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547639038	chr22:33513161-33513162	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372799600	chr22:33513235-33513236	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs11912269	chr22:33513417-33513418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58828374	chr22:33513422-33513423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112644999	chr22:33513424-33513425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397804025	chr22:33513436-33513437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13053779	chr22:33513445-33513446	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs13053468	chr22:33513469-33513470	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs141623604	chr22:33513565-33513566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113558906	chr22:33513578-33513579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75875888	chr22:33513598-33513599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs5998734	chr22:33513612-33513613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368948357	chr22:33513636-33513637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111606954	chr22:33513647-33513648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187210162	chr22:33513654-33513655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535017015	chr22:33513666-33513667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192092305	chr22:33513691-33513692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79979766	chr22:33513744-33513745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373319616	chr22:33513851-33513852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56727344	chr22:33513889-33513890	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs536582278	chr22:33513898-33513899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556062030	chr22:33513937-33513938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576232575	chr22:33514026-33514027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560002005	chr22:33514053-33514054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528753154	chr22:33514095-33514096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149306424	chr22:33514116-33514117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs137309	chr22:33514133-33514134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183636122	chr22:33514160-33514161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374575959	chr22:33514193-33514194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550499165	chr22:33514221-33514222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12158647	chr22:33514236-33514237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532746804	chr22:33514248-33514249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565484640	chr22:33514284-33514285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186937378	chr22:33514295-33514296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190394107	chr22:33514381-33514382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	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
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33507600-33512800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:33509000-33513000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr22:33509600-33512800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr22:33511200-33512800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr22:33511400-33513200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr22:33511800-33512800	Enhancers	NHEK	skin
7	chr22:33512000-33513400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:33512200-33515200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr22:33512600-33513400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr22:33512600-33513400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr22:33512600-33513600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:33512600-33514000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr22:33512600-33514800	Enhancers	HMEC	breast
14	chr22:33512600-33515200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:33512800-33513000	Flanking Active TSS	NHEK	skin
16	chr22:33512800-33513200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr22:33512800-33513400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:33512800-33513400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:33512800-33513800	Enhancers	Primary hematopoietic stem cells	blood
20	chr22:33513000-33513200	Enhancers	NHEK	skin
21	chr22:33513000-33513400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr22:33513200-33513400	Flanking Active TSS	NHEK	skin
23	chr22:33513200-33513600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr22:33513200-33514200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr22:33513400-33514400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr22:33513400-33515000	Enhancers	NHEK	skin
27	chr22:33514600-33514800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr22:33517400-33518400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:33518400-33518600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:33518400-33518800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr22:33519000-33519600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr22:33519800-33520200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr22:33521000-33521200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr22:33522800-33523400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr22:33523200-33523400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr22:33523200-33523400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr22:33523400-33524800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr22:33524800-33525400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr22:33525800-33527200	Enhancers	HepG2	liver
40	chr22:33526200-33527400	Enhancers	Liver	Liver
41	chr22:33535800-33536000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
42	chr22:33535800-33536200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr22:33535800-33536200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
44	chr22:33538200-33539000	Enhancers	Liver	Liver
45	chr22:33538200-33539400	Enhancers	Fetal Brain Male	brain
46	chr22:33539400-33541200	Weak transcription	Fetal Brain Male	brain
47	chr22:33541200-33541400	Enhancers	Fetal Brain Male	brain
48	chr22:33546200-33546400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:33546200-33546600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:33546600-33547400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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