Variant report

Variant	nsv520296
Chromosome Location	chr22:32774129-32774944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr22:32774690-32775072	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr22:32774747-32774973	K562	blood:	n/a	n/a
3	CTCF	chr22:32774800-32774950	HCFaa	heart:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
4	CTCF	chr22:32774780-32774930	HMEC	breast:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
5	CTCF	chr22:32774760-32774910	HRPEpiC	eye:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
6	CTCF	chr22:32774740-32774890	GM12868	blood:	n/a	n/a
7	CTCF	chr22:32774800-32774950	WI-38	lung:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
8	CTCF	chr22:32774760-32774910	HEK293	kidney:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
9	CTCF	chr22:32774780-32774930	HMF	breast:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
10	CTCF	chr22:32774360-32774510	HCM	heart:	n/a	n/a
11	CTCF	chr22:32774780-32774930	HVMF	connective:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
12	CTCF	chr22:32774840-32774990	GM12864	blood:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
13	CTCF	chr22:32774780-32774930	NHEK	skin:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
14	CTCF	chr22:32774578-32775091	K562	blood:	n/a	chr22:32774880-32774898 chr22:32774615-32774628 chr22:32774883-32774896
15	CTCF	chr22:32774780-32774930	BE2_C	brain:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
16	CTCF	chr22:32774800-32774950	HFF-Myc	foreskin:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
17	CTCF	chr22:32774717-32775025	GM19238	blood:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
18	CTCF	chr22:32774780-32774930	AG10803	skin:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
19	CTCF	chr22:32774760-32774910	A549	lung:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
20	CTCF	chr22:32774780-32774930	HEEpiC	esophagus:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
21	CTCF	chr22:32774780-32774930	GM12872	blood:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
22	CTCF	chr22:32774768-32774928	Spleen_OC	spleen:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
23	CTCF	chr22:32774800-32774950	HMEC	breast:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
24	CTCF	chr22:32774740-32774890	NHDF-neo	bronchial:	n/a	n/a
25	CTCF	chr22:32774760-32774910	GM12873	blood:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
26	CTCF	chr22:32774494-32775199	K562	blood:	n/a	chr22:32774880-32774898 chr22:32775157-32775170 chr22:32774615-32774628 chr22:32774883-32774896
27	CTCF	chr22:32774670-32775045	MCF-7	breast:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
28	CTCF	chr22:32774631-32774992	ECC-1	luminal epithelium:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
29	CTCF	chr22:32774820-32774970	AG09319	gingival:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
30	CTCF	chr22:32774650-32774974	ECC-1	luminal epithelium:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
31	CTCF	chr22:32774690-32774980	SK-N-SH_RA	brain:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
32	CTCF	chr22:32774800-32774950	NHDF-neo	bronchial:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
33	CTCF	chr22:32774715-32775029	GM12891	blood:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
34	CTCF	chr22:32774800-32774950	GM12878	blood:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
35	CTCF	chr22:32774800-32774950	AG04449	skin:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
36	CTCF	chr22:32774728-32775009	GM12892	blood:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
37	CTCF	chr22:32774800-32774950	HEK293	kidney:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
38	CTCF	chr22:32774824-32774871	GM13976	blood:	n/a	n/a
39	CTCF	chr22:32774820-32774970	BJ	skin:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
40	CTCF	chr22:32774800-32774950	GM12874	blood:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
41	CTCF	chr22:32774780-32774930	HRPEpiC	eye:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
42	CTCF	chr22:32774705-32775030	K562	blood:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
43	CTCF	chr22:32774695-32775045	A549	lung:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
44	CTCF	chr22:32774800-32774950	HRE	kidney:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
45	CTCF	chr22:32774731-32774994	ProgFib	skin:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
46	CTCF	chr22:32774706-32775017	MCF-7	breast:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
47	CTCF	chr22:32774535-32775172	MCF-7	breast:	n/a	chr22:32774880-32774898 chr22:32775157-32775170 chr22:32774615-32774628 chr22:32774883-32774896
48	CTCF	chr22:32774780-32774930	GM12875	blood:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
49	CTCF	chr22:32774673-32775049	MCF-7	breast:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
50	CTCF	chr22:32774740-32774890	HEEpiC	esophagus:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:31829733-31836635..22:32764253-32784733	K562	blood:
2	chr22:32774655..32775289-chr22:32840154..32841027,2	MCF-7	breast:
3	chr22:32774484..32775191-chr22:32869003..32869550,2	MCF-7	breast:
4	22:32513817-32522138..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
5	chr22:32598513..32599181-chr22:32774588..32775254,2	MCF-7	breast:
6	chr22:32774801..32777723-chr22:32782145..32784494,2	MCF-7	breast:
7	chr22:32774466..32775412-chr22:32914589..32915237,2	K562	blood:
8	chr22:32366399..32367270-chr22:32774385..32775272,2	MCF-7	breast:
9	chr22:32774444..32775309-chr22:32839813..32840801,8	MCF-7	breast:
10	22:31936958-31958600..22:32764253-32784733	K562	blood:
11	chr22:32636741..32637412-chr22:32774275..32774958,2	MCF-7	breast:
12	22:32360288-32405313..22:32764253-32784733	K562	blood:
13	chr22:32774461..32775315-chr22:33599131..33599713,2	MCF-7	breast:
14	chr22:32499507..32500361-chr22:32774175..32775330,4	MCF-7	breast:
15	22:32529813-32538538..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
16	chr22:32598041..32599019-chr22:32774399..32775272,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241954	TF binding region
ENSG00000232218	chromatin interactions
ENSG00000214093	chromatin interactions
ENSG00000239674	chromatin interactions
ENSG00000234479	chromatin interactions
ENSG00000240647	chromatin interactions
ENSG00000232707	chromatin interactions
ENSG00000230866	chromatin interactions
ENSG00000184708	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2076036	chr22:32774129-32774130	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547208314	chr22:32774147-32774148	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs567185197	chr22:32774156-32774157	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs536161523	chr22:32774157-32774158	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs542858293	chr22:32774186-32774187	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs186025974	chr22:32774309-32774310	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs559508796	chr22:32774314-32774315	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs535320853	chr22:32774322-32774323	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs528203080	chr22:32774327-32774328	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs138695936	chr22:32774411-32774412	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs7288975	chr22:32774472-32774473	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs543782449	chr22:32774475-32774476	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs572192324	chr22:32774502-32774503	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs112946433	chr22:32774519-32774520	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs2076037	chr22:32774525-32774526	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs190342139	chr22:32774545-32774546	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs555251090	chr22:32774560-32774561	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs543806141	chr22:32774588-32774589	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs71313127	chr22:32774604-32774605	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs36102402	chr22:32774627-32774628	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs563689613	chr22:32774683-32774684	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs532432730	chr22:32774686-32774687	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs545868912	chr22:32774712-32774713	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs112548399	chr22:32774740-32774741	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs559389888	chr22:32774752-32774753	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs528576184	chr22:32774795-32774796	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs114273026	chr22:32774804-32774805	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs560974624	chr22:32774819-32774820	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs529992858	chr22:32774880-32774881	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs182605611	chr22:32774892-32774893	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs549842300	chr22:32774918-32774919	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs73166393	chr22:32774930-32774931	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs8139992	chr22:32774931-32774932	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs9621435	chr22:32774944-32774945	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

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
Cancer	20164919	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32755800-32781600	Weak transcription	Ovary	ovary
2	chr22:32762800-32788200	Weak transcription	Psoas Muscle	Psoas
3	chr22:32772000-32781200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr22:32772200-32781400	Weak transcription	Fetal Intestine Small	intestine
5	chr22:32772600-32781400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:32772800-32780800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:32772800-32781400	Weak transcription	Brain Germinal Matrix	brain
8	chr22:32772800-32781600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr22:32773200-32781400	Weak transcription	Gastric	stomach
10	chr22:32773200-32781400	Weak transcription	Lung	lung
11	chr22:32773600-32775000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:32773800-32781600	Weak transcription	Esophagus	oesophagus
13	chr22:32774000-32774400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:32774000-32774600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:32774000-32782000	Weak transcription	Primary B cells from cord blood	blood
16	chr22:32774400-32775200	Enhancers	Brain Hippocampus Middle	brain
17	chr22:32774400-32775400	Enhancers	Fetal Muscle Trunk	muscle
18	chr22:32774400-32775400	Enhancers	Fetal Muscle Leg	muscle
19	chr22:32774400-32775400	Enhancers	Spleen	Spleen
20	chr22:32774400-32781200	Weak transcription	Primary T cells from cord blood	blood
21	chr22:32774400-32781400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:32774600-32775200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr22:32774600-32775200	Enhancers	Brain Cingulate Gyrus	brain
24	chr22:32774600-32775400	Enhancers	Brain Substantia Nigra	brain
25	chr22:32774600-32780800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:32774800-32775000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr22:32774800-32775200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:32774800-32775400	Enhancers	Brain Angular Gyrus	brain
29	chr22:32774800-32775400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr22:32774800-32775400	Enhancers	K562	blood

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