Variant report

Variant	nsv588883
Chromosome Location	chr22:30333405-30365842
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:274)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:30334129-30334355	K562	blood:	n/a	n/a
2	ARID3A	chr22:30347797-30348766	K562	blood:	n/a	n/a
3	ARID3A	chr22:30350226-30350571	K562	blood:	n/a	n/a
4	ARID3A	chr22:30363852-30363917	HepG2	liver:	n/a	n/a
5	ATF1	chr22:30350281-30350497	K562	blood:	n/a	n/a
6	ATF3	chr22:30334179-30334497	K562	blood:	n/a	n/a
7	BACH1	chr22:30334166-30334493	K562	blood:	n/a	n/a
8	BATF	chr22:30334164-30334673	GM12878	blood:	n/a	chr22:30334371-30334382
9	BATF	chr22:30334136-30334511	GM12878	blood:	n/a	chr22:30334371-30334382
10	BCL3	chr22:30334279-30334714	GM12878	blood:	n/a	n/a
11	BCL3	chr22:30351966-30352212	GM12878	blood:	n/a	n/a
12	BCL3	chr22:30351926-30352244	GM12878	blood:	n/a	n/a
13	BCL3	chr22:30350255-30350578	GM12878	blood:	n/a	n/a
14	BCLAF1	chr22:30334167-30334610	GM12878	blood:	n/a	n/a
15	BHLHE40	chr22:30341126-30341176	K562	blood:	n/a	n/a
16	BHLHE40	chr22:30342276-30342537	K562	blood:	n/a	n/a
17	BHLHE40	chr22:30348005-30348450	K562	blood:	n/a	n/a
18	BHLHE40	chr22:30350297-30350667	K562	blood:	n/a	chr22:30350654-30350667 chr22:30350656-30350665 chr22:30350656-30350665
19	CCNT2	chr22:30348042-30348819	K562	blood:	n/a	chr22:30348262-30348282
20	CEBPB	chr22:30352005-30352254	MCF-7	breast:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
21	CEBPB	chr22:30344613-30344652	IMR90	lung:	n/a	n/a
22	CEBPB	chr22:30347970-30348719	K562	blood:	n/a	n/a
23	CEBPB	chr22:30352046-30352234	HepG2	liver:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
24	CEBPB	chr22:30350430-30350453	IMR90	lung:	n/a	n/a
25	CEBPB	chr22:30350269-30350618	K562	blood:	n/a	n/a
26	CEBPB	chr22:30351996-30352267	IMR90	lung:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
27	CEBPB	chr22:30347901-30348464	K562	blood:	n/a	n/a
28	CEBPB	chr22:30351709-30351868	K562	blood:	n/a	n/a
29	CEBPB	chr22:30352024-30352234	Hela-S3	cervix:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
30	CEBPB	chr22:30350241-30350573	K562	blood:	n/a	n/a
31	CEBPD	chr22:30347977-30348593	K562	blood:	n/a	n/a
32	CEBPD	chr22:30347982-30348604	K562	blood:	n/a	n/a
33	CHD1	chr22:30337298-30337745	IMR90	lung:	n/a	n/a
34	CTCF	chr22:30341620-30341653	ProgFib	skin:	n/a	n/a
35	CTCF	chr22:30362560-30362710	AG04450	lung:	n/a	n/a
36	CTCF	chr22:30362560-30362710	AoAF	blood vessel:	n/a	n/a
37	CTCF	chr22:30362660-30362810	GM12878	blood:	n/a	n/a
38	CTCF	chr22:30362600-30362750	MCF-7	breast:	n/a	n/a
39	CTCF	chr22:30362694-30362762	MCF-7	breast:	n/a	n/a
40	CTCF	chr22:30362686-30362745	GM12878	blood:	n/a	n/a
41	CTCF	chr22:30362692-30362697	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr22:30362760-30362910	HCT-116	colon:	n/a	n/a
43	CTCF	chr22:30362640-30362790	HCFaa	heart:	n/a	n/a
44	CTCF	chr22:30362660-30362810	GM12874	blood:	n/a	n/a
45	CTCF	chr22:30362580-30362730	GM12872	blood:	n/a	n/a
46	CTCF	chr22:30362706-30362747	MCF-7	breast:	n/a	n/a
47	CTCF	chr22:30362640-30362790	HRE	kidney:	n/a	n/a
48	CTCF	chr22:30362520-30362670	GM12873	blood:	n/a	n/a
49	CTCF	chr22:30362700-30362757	A549	lung:	n/a	n/a
50	CTCF	chr22:30362660-30362810	HEEpiC	esophagus:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30346859..30350735-chr22:30351458..30355335,4	K562	blood:
2	chr22:30353695..30355711-chr22:30356514..30358241,2	MCF-7	breast:
3	chr22:30348834..30351665-chr22:30352625..30356782,4	K562	blood:
4	chr22:30353123..30354651-chr22:30355754..30358455,2	MCF-7	breast:
5	chr22:30353695..30355711-chr22:30356514..30358241,2	MCF-7	breast:
6	chr22:30349519..30352332-chr22:30354507..30356583,2	MCF-7	breast:
7	chr22:30363254..30365949-chr22:30378819..30380914,2	K562	blood:
8	chr22:30348834..30351665-chr22:30352625..30356782,4	K562	blood:
9	chr22:30354232..30357040-chr22:30359607..30363424,3	MCF-7	breast:
10	chr22:30330994..30332769-chr22:30343214..30346064,2	MCF-7	breast:
11	chr22:30354232..30357040-chr22:30359607..30363424,3	MCF-7	breast:
12	chr22:30353123..30354651-chr22:30355754..30358455,2	MCF-7	breast:
13	chr22:30362170..30364148-chr22:30364525..30367430,3	K562	blood:
14	chr22:30349519..30352332-chr22:30354507..30356583,2	MCF-7	breast:
15	chr22:30362158..30363742-chr22:30364896..30367114,2	K562	blood:
16	chr22:30346859..30350735-chr22:30351458..30355335,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HORMAD2-6	chr22:30353025-30353077	NONHSAT084740
2	lnc-ASCC2-1	chr22:30363672-30366965	ENSG00000249836

No data

Variant related genes	Relation type
MTMR3	TF binding region
ENSG00000221736	TF binding region
ENSG00000100330	chromatin interactions
MNX1	miRNA target sites

Extended variants
information (count: 1381 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1381 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75335658	chr22:30333408-30333409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs202067145	chr22:30333409-30333410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs397691470	chr22:30333422-30333423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540338422	chr22:30333439-30333440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561511013	chr22:30333473-30333474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6006303	chr22:30333486-30333487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188653715	chr22:30333531-30333532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528909982	chr22:30333537-30333538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542155465	chr22:30333543-30333544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563967393	chr22:30333545-30333546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531236834	chr22:30333660-30333661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552776721	chr22:30333680-30333681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375930976	chr22:30333693-30333694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528583849	chr22:30333709-30333710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547102965	chr22:30333716-30333717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140057260	chr22:30333726-30333727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs5763616	chr22:30333741-30333742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560614247	chr22:30333810-30333811	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs193229574	chr22:30333850-30333851	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs184819511	chr22:30333872-30333873	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs568763723	chr22:30333874-30333875	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs532789317	chr22:30333880-30333881	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs142282638	chr22:30333898-30333899	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs111864548	chr22:30333901-30333902	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs533629340	chr22:30333902-30333903	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs5997554	chr22:30333980-30333981	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs115288998	chr22:30334024-30334025	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs188901169	chr22:30334072-30334073	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs544148762	chr22:30334113-30334114	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs181692099	chr22:30334130-30334131	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs575976074	chr22:30334135-30334136	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs183809770	chr22:30334136-30334137	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs149742798	chr22:30334158-30334159	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs528744857	chr22:30334175-30334176	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs189886550	chr22:30334198-30334199	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs562169817	chr22:30334244-30334245	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs529369592	chr22:30334309-30334310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs550921678	chr22:30334315-30334316	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs568924678	chr22:30334338-30334339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs539331411	chr22:30334340-30334341	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs36593	chr22:30334356-30334357	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566325529	chr22:30334363-30334364	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs36594	chr22:30334382-30334383	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs555276602	chr22:30334394-30334395	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs376744966	chr22:30334421-30334422	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs147619846	chr22:30334518-30334519	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs36595	chr22:30334554-30334555	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs537560974	chr22:30334578-30334579	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs535293315	chr22:30334588-30334589	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs556180136	chr22:30334684-30334685	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:774 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:30311800-30340400	Weak transcription	HSMM	muscle
3	chr22:30312600-30339800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr22:30313000-30343800	Weak transcription	Fetal Stomach	stomach
5	chr22:30313600-30339800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
7	chr22:30314200-30334200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr22:30318000-30334000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:30319800-30333800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr22:30320400-30333800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr22:30320600-30339800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr22:30321400-30339800	Weak transcription	Lung	lung
13	chr22:30321800-30334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr22:30324400-30337800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:30327600-30342200	Weak transcription	Brain Angular Gyrus	brain
16	chr22:30328200-30333800	Weak transcription	Primary T cells from cord blood	blood
17	chr22:30328400-30333800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr22:30328400-30343600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr22:30328400-30351800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr22:30330400-30333800	Weak transcription	Right Atrium	heart
21	chr22:30330600-30339400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr22:30330600-30342200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr22:30331200-30334800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr22:30331400-30333800	Weak transcription	Brain Substantia Nigra	brain
25	chr22:30331600-30336600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:30331600-30339800	Weak transcription	Ovary	ovary
27	chr22:30332000-30342200	Weak transcription	Gastric	stomach
28	chr22:30332400-30337200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr22:30332600-30334000	Weak transcription	Psoas Muscle	Psoas
30	chr22:30332600-30334000	Weak transcription	A549	lung
31	chr22:30332600-30334400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr22:30332600-30335600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:30332600-30336600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr22:30332600-30337000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr22:30332600-30339800	Weak transcription	Left Ventricle	heart
36	chr22:30332600-30345000	Weak transcription	Pancreas	Pancrea
37	chr22:30332600-30347400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr22:30332800-30334000	Weak transcription	Brain Hippocampus Middle	brain
39	chr22:30332800-30334600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:30332800-30340200	Weak transcription	Stomach Mucosa	stomach
41	chr22:30332800-30341000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr22:30332800-30343800	Weak transcription	Adipose Nuclei	Adipose
43	chr22:30333200-30334800	Enhancers	Primary B cells from cord blood	blood
44	chr22:30333400-30333600	Enhancers	Brain Anterior Caudate	brain
45	chr22:30333400-30333800	Enhancers	GM12878-XiMat	blood
46	chr22:30333400-30334800	Enhancers	Primary B cells from peripheral blood	blood
47	chr22:30333600-30343600	Weak transcription	Brain Anterior Caudate	brain
48	chr22:30333800-30334000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr22:30333800-30334000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr22:30333800-30334000	Enhancers	K562	blood

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