Variant report

Variant	nsv523696
Chromosome Location	chr22:30326102-30381789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:334)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:30350226-30350571	K562	blood:	n/a	n/a
2	ARID3A	chr22:30334129-30334355	K562	blood:	n/a	n/a
3	ARID3A	chr22:30347797-30348766	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	chr22:30334136-30334511	GM12878	blood:	n/a	chr22:30334371-30334382
9	BATF	chr22:30334164-30334673	GM12878	blood:	n/a	chr22:30334371-30334382
10	BCL3	chr22:30351926-30352244	GM12878	blood:	n/a	n/a
11	BCL3	chr22:30351966-30352212	GM12878	blood:	n/a	n/a
12	BCL3	chr22:30350255-30350578	GM12878	blood:	n/a	n/a
13	BCL3	chr22:30334279-30334714	GM12878	blood:	n/a	n/a
14	BCLAF1	chr22:30334167-30334610	GM12878	blood:	n/a	n/a
15	BHLHE40	chr22:30350297-30350667	K562	blood:	n/a	chr22:30350654-30350667 chr22:30350656-30350665 chr22:30350656-30350665
16	BHLHE40	chr22:30341126-30341176	K562	blood:	n/a	n/a
17	BHLHE40	chr22:30348005-30348450	K562	blood:	n/a	n/a
18	BHLHE40	chr22:30342276-30342537	K562	blood:	n/a	n/a
19	CCNT2	chr22:30348042-30348819	K562	blood:	n/a	chr22:30348262-30348282
20	CEBPB	chr22:30352024-30352234	Hela-S3	cervix:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
21	CEBPB	chr22:30351996-30352267	IMR90	lung:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
22	CEBPB	chr22:30350241-30350573	K562	blood:	n/a	n/a
23	CEBPB	chr22:30347901-30348464	K562	blood:	n/a	n/a
24	CEBPB	chr22:30350269-30350618	K562	blood:	n/a	n/a
25	CEBPB	chr22:30371568-30371787	HepG2	liver:	n/a	chr22:30371645-30371656
26	CEBPB	chr22:30371521-30371774	H1-hESC	embryonic stem cell:	n/a	chr22:30371645-30371656
27	CEBPB	chr22:30370940-30371009	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr22:30371587-30371746	A549	lung:	n/a	chr22:30371645-30371656
29	CEBPB	chr22:30352046-30352234	HepG2	liver:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
30	CEBPB	chr22:30371567-30371743	IMR90	lung:	n/a	chr22:30371645-30371656
31	CEBPB	chr22:30352005-30352254	MCF-7	breast:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
32	CEBPB	chr22:30347970-30348719	K562	blood:	n/a	n/a
33	CEBPB	chr22:30351709-30351868	K562	blood:	n/a	n/a
34	CEBPB	chr22:30344613-30344652	IMR90	lung:	n/a	n/a
35	CEBPB	chr22:30350430-30350453	IMR90	lung:	n/a	n/a
36	CEBPD	chr22:30347982-30348604	K562	blood:	n/a	n/a
37	CEBPD	chr22:30347977-30348593	K562	blood:	n/a	n/a
38	CHD1	chr22:30337298-30337745	IMR90	lung:	n/a	n/a
39	CHD1	chr22:30328322-30328334	GM12878	blood:	n/a	n/a
40	CTCF	chr22:30362560-30362710	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr22:30362620-30362770	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr22:30362580-30362730	GM12872	blood:	n/a	n/a
43	CTCF	chr22:30362600-30362750	AG04450	lung:	n/a	n/a
44	CTCF	chr22:30362680-30362830	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr22:30362700-30362757	A549	lung:	n/a	n/a
46	CTCF	chr22:30362760-30362910	HCT-116	colon:	n/a	n/a
47	CTCF	chr22:30362600-30362750	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr22:30362620-30362770	HEK293	kidney:	n/a	n/a
49	CTCF	chr22:30328983-30329056	GM13977	blood:	n/a	n/a
50	CTCF	chr22:30362694-30362762	MCF-7	breast:	n/a	n/a

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30308576..30310461-chr22:30376998..30379736,2	K562	blood:
2	chr22:30346859..30350735-chr22:30351458..30355335,4	K562	blood:
3	chr22:30277883..30280870-chr22:30367706..30370340,3	K562	blood:
4	chr22:30368906..30371469-chr22:30373456..30376655,3	K562	blood:
5	chr22:30348834..30351665-chr22:30352625..30356782,4	K562	blood:
6	chr22:30353695..30355711-chr22:30356514..30358241,2	MCF-7	breast:
7	chr22:30277883..30280606-chr22:30367706..30369790,2	K562	blood:
8	chr22:30362170..30364148-chr22:30364525..30367430,3	K562	blood:
9	chr22:30354232..30357040-chr22:30359607..30363424,3	MCF-7	breast:
10	chr22:30349519..30352332-chr22:30354507..30356583,2	MCF-7	breast:
11	chr22:30376984..30378787-chr22:30386876..30389530,2	MCF-7	breast:
12	chr22:30330994..30332769-chr22:30343214..30346064,2	MCF-7	breast:
13	chr22:30372068..30374181-chr22:30380564..30382189,2	K562	blood:
14	chr22:30353123..30354651-chr22:30355754..30358455,2	MCF-7	breast:
15	chr22:30365436..30368018-chr22:30369958..30371760,2	K562	blood:
16	chr22:30369409..30372830-chr22:30374993..30377919,3	MCF-7	breast:
17	chr22:30330994..30332769-chr22:30343214..30346064,2	MCF-7	breast:
18	chr22:30372712..30375729-chr22:30378749..30380961,3	MCF-7	breast:
19	chr22:30363254..30365949-chr22:30378819..30380914,2	K562	blood:
20	chr22:30354232..30357040-chr22:30359607..30363424,3	MCF-7	breast:
21	chr22:30368906..30372309-chr22:30373836..30377442,4	K562	blood:
22	chr22:30346859..30350735-chr22:30351458..30355335,4	K562	blood:
23	chr22:30366853..30371460-chr22:30371891..30375827,4	MCF-7	breast:
24	chr22:30362158..30363742-chr22:30364896..30367114,2	K562	blood:
25	chr22:30366853..30371460-chr22:30371891..30375827,4	MCF-7	breast:
26	chr22:30353123..30354651-chr22:30355754..30358455,2	MCF-7	breast:
27	chr22:30348834..30351665-chr22:30352625..30356782,4	K562	blood:
28	chr22:30349519..30352332-chr22:30354507..30356583,2	MCF-7	breast:
29	chr22:30369409..30372830-chr22:30374993..30377919,3	MCF-7	breast:
30	chr22:30353695..30355711-chr22:30356514..30358241,2	MCF-7	breast:
31	chr22:30363254..30365949-chr22:30378819..30380914,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HORMAD2-6	chr22:30374414-30374520	NONHSAT084740
2	lnc-HORMAD2-6	chr22:30366965-30367051	NONHSAT084740
3	lnc-HORMAD2-6	chr22:30374925-30374957	NONHSAT084740
4	lnc-ASCC2-1	chr22:30363672-30366965	ENSG00000249836
5	lnc-HORMAD2-6	chr22:30353025-30353077	NONHSAT084740

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: 2267 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2267 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7291756	chr22:30326102-30326103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563482719	chr22:30326105-30326106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575387701	chr22:30326196-30326197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545637304	chr22:30326245-30326246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564308008	chr22:30326246-30326247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528146494	chr22:30326266-30326267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546304534	chr22:30326275-30326276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146939885	chr22:30326312-30326313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558591560	chr22:30326467-30326468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528882652	chr22:30326470-30326471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575270664	chr22:30326482-30326483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544339743	chr22:30326486-30326487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570292298	chr22:30326515-30326516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182019983	chr22:30326586-30326587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578165854	chr22:30326587-30326588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552469994	chr22:30326611-30326612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187628489	chr22:30326631-30326632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117859443	chr22:30326672-30326673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189956995	chr22:30326771-30326772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs137897603	chr22:30326788-30326789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs36589	chr22:30326801-30326802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557335387	chr22:30326802-30326803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560442797	chr22:30326839-30326840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112025855	chr22:30326851-30326852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575401196	chr22:30326855-30326856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546099949	chr22:30326866-30326867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181927497	chr22:30326867-30326868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144145342	chr22:30326934-30326935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539916770	chr22:30326962-30326963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185298448	chr22:30326989-30326990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370939356	chr22:30327002-30327003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75590718	chr22:30327005-30327006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190155171	chr22:30327007-30327008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180730654	chr22:30327010-30327011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550265573	chr22:30327015-30327016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562527154	chr22:30327016-30327017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531079642	chr22:30327017-30327018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552871113	chr22:30327018-30327019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145177305	chr22:30327019-30327020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571038799	chr22:30327039-30327040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534394573	chr22:30327051-30327052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184994246	chr22:30327068-30327069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113896853	chr22:30327077-30327078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532308515	chr22:30327140-30327141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535946452	chr22:30327167-30327168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191161343	chr22:30327176-30327177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535625555	chr22:30327203-30327204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183823102	chr22:30327224-30327225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557043721	chr22:30327228-30327229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73396896	chr22:30327242-30327243	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:1332 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30305600-30327400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr22:30309200-30326400	Weak transcription	Pancreas	Pancrea
3	chr22:30310000-30327600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr22:30311000-30333200	Weak transcription	Primary B cells from cord blood	blood
5	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:30311800-30340400	Weak transcription	HSMM	muscle
7	chr22:30312600-30326400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr22:30312600-30339800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr22:30313000-30343800	Weak transcription	Fetal Stomach	stomach
10	chr22:30313600-30339800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
12	chr22:30314200-30334200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr22:30314400-30328200	Weak transcription	Osteobl	bone
14	chr22:30314600-30329200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr22:30318000-30334000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:30319800-30329800	Weak transcription	Right Atrium	heart
17	chr22:30319800-30333800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr22:30320400-30328200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:30320400-30331200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr22:30320400-30333800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr22:30320600-30339800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr22:30321200-30329000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:30321400-30326400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr22:30321400-30328000	Weak transcription	Colon Smooth Muscle	Colon
25	chr22:30321400-30330200	Weak transcription	Left Ventricle	heart
26	chr22:30321400-30331200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr22:30321400-30339800	Weak transcription	Lung	lung
28	chr22:30321800-30326400	Weak transcription	Ovary	ovary
29	chr22:30321800-30326400	Weak transcription	Psoas Muscle	Psoas
30	chr22:30321800-30334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr22:30322000-30328000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr22:30322000-30332200	Weak transcription	Fetal Intestine Small	intestine
33	chr22:30322600-30327800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:30323800-30326600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr22:30324400-30337800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr22:30324600-30328400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr22:30325200-30328400	Weak transcription	Adipose Nuclei	Adipose
38	chr22:30326400-30326800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr22:30326400-30326800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr22:30326400-30326800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr22:30326400-30327000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr22:30326400-30327600	Enhancers	Pancreas	Pancrea
43	chr22:30326400-30327800	Enhancers	Psoas Muscle	Psoas
44	chr22:30326400-30328000	Enhancers	Ovary	ovary
45	chr22:30326600-30326800	Enhancers	Rectal Smooth Muscle	rectum
46	chr22:30326600-30327000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr22:30326800-30328000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr22:30326800-30330600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr22:30327000-30327400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr22:30327000-30330400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links