Variant report

Variant	nsv869764
Chromosome Location	chr22:30323649-30367813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:295)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:295 , 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	chr22:30350255-30350578	GM12878	blood:	n/a	n/a
11	BCL3	chr22:30351926-30352244	GM12878	blood:	n/a	n/a
12	BCL3	chr22:30334279-30334714	GM12878	blood:	n/a	n/a
13	BCL3	chr22:30351966-30352212	GM12878	blood:	n/a	n/a
14	BCLAF1	chr22:30334167-30334610	GM12878	blood:	n/a	n/a
15	BHLHE40	chr22:30348005-30348450	K562	blood:	n/a	n/a
16	BHLHE40	chr22:30350297-30350667	K562	blood:	n/a	chr22:30350654-30350667 chr22:30350656-30350665 chr22:30350656-30350665
17	BHLHE40	chr22:30342276-30342537	K562	blood:	n/a	n/a
18	BHLHE40	chr22:30341126-30341176	K562	blood:	n/a	n/a
19	CCNT2	chr22:30348042-30348819	K562	blood:	n/a	chr22:30348262-30348282
20	CEBPB	chr22:30352046-30352234	HepG2	liver:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
21	CEBPB	chr22:30350430-30350453	IMR90	lung:	n/a	n/a
22	CEBPB	chr22:30347901-30348464	K562	blood:	n/a	n/a
23	CEBPB	chr22:30351996-30352267	IMR90	lung:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
24	CEBPB	chr22:30351709-30351868	K562	blood:	n/a	n/a
25	CEBPB	chr22:30347970-30348719	K562	blood:	n/a	n/a
26	CEBPB	chr22:30350241-30350573	K562	blood:	n/a	n/a
27	CEBPB	chr22:30352024-30352234	Hela-S3	cervix:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
28	CEBPB	chr22:30344613-30344652	IMR90	lung:	n/a	n/a
29	CEBPB	chr22:30350269-30350618	K562	blood:	n/a	n/a
30	CEBPB	chr22:30352005-30352254	MCF-7	breast:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
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	CHD1	chr22:30328322-30328334	GM12878	blood:	n/a	n/a
35	CTCF	chr22:30342360-30342510	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr22:30362660-30362810	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr22:30362640-30362790	GM12868	blood:	n/a	n/a
38	CTCF	chr22:30362600-30362750	GM12869	blood:	n/a	n/a
39	CTCF	chr22:30362640-30362790	GM12864	blood:	n/a	n/a
40	CTCF	chr22:30362640-30362790	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr22:30362560-30362710	HPF	lung:	n/a	n/a
42	CTCF	chr22:30362520-30362670	GM12873	blood:	n/a	n/a
43	CTCF	chr22:30362692-30362697	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr22:30362721-30362736	GM13977	blood:	n/a	n/a
45	CTCF	chr22:30324980-30325130	GM12878	blood:	n/a	n/a
46	CTCF	chr22:30362560-30362710	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr22:30362698-30362736	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr22:30362600-30362750	AG04450	lung:	n/a	n/a
49	CTCF	chr22:30362672-30362741	MCF-7	breast:	n/a	n/a
50	CTCF	chr22:30341620-30341653	ProgFib	skin:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30362158..30363742-chr22:30364896..30367114,2	K562	blood:
2	chr22:30277883..30280606-chr22:30367706..30369790,2	K562	blood:
3	chr22:30353695..30355711-chr22:30356514..30358241,2	MCF-7	breast:
4	chr22:30349519..30352332-chr22:30354507..30356583,2	MCF-7	breast:
5	chr22:30353123..30354651-chr22:30355754..30358455,2	MCF-7	breast:
6	chr22:30363254..30365949-chr22:30378819..30380914,2	K562	blood:
7	chr22:30348834..30351665-chr22:30352625..30356782,4	K562	blood:
8	chr22:30349519..30352332-chr22:30354507..30356583,2	MCF-7	breast:
9	chr22:30353695..30355711-chr22:30356514..30358241,2	MCF-7	breast:
10	chr22:30277883..30280870-chr22:30367706..30370340,3	K562	blood:
11	chr22:30354232..30357040-chr22:30359607..30363424,3	MCF-7	breast:
12	chr22:30346859..30350735-chr22:30351458..30355335,4	K562	blood:
13	chr22:30354232..30357040-chr22:30359607..30363424,3	MCF-7	breast:
14	chr22:30362170..30364148-chr22:30364525..30367430,3	K562	blood:
15	chr22:30330994..30332769-chr22:30343214..30346064,2	MCF-7	breast:
16	chr22:30315541..30318524-chr22:30322847..30324530,2	MCF-7	breast:
17	chr22:30348834..30351665-chr22:30352625..30356782,4	K562	blood:
18	chr22:30366853..30371460-chr22:30371891..30375827,4	MCF-7	breast:
19	chr22:30330994..30332769-chr22:30343214..30346064,2	MCF-7	breast:
20	chr22:30346859..30350735-chr22:30351458..30355335,4	K562	blood:
21	chr22:30353123..30354651-chr22:30355754..30358455,2	MCF-7	breast:
22	chr22:30314351..30317340-chr22:30321857..30323979,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASCC2-1	chr22:30363672-30366965	ENSG00000249836
2	lnc-HORMAD2-6	chr22:30366965-30367051	NONHSAT084740
3	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: 1863 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1863 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568803660	chr22:30323657-30323658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560933177	chr22:30323667-30323668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372046273	chr22:30323680-30323681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140704328	chr22:30323735-30323736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372403682	chr22:30323736-30323737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553361306	chr22:30323826-30323827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377530164	chr22:30323840-30323841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552410780	chr22:30323842-30323843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572822665	chr22:30323886-30323887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544664359	chr22:30323904-30323905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143952543	chr22:30323923-30323924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367951015	chr22:30323928-30323929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71686988	chr22:30323929-30323930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199931658	chr22:30323932-30323933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10685422	chr22:30323947-30323948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112020406	chr22:30324032-30324033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112714390	chr22:30324033-30324034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538566664	chr22:30324044-30324045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547522660	chr22:30324075-30324076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565902116	chr22:30324111-30324112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536315494	chr22:30324144-30324145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554737520	chr22:30324145-30324146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76291835	chr22:30324160-30324161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546857083	chr22:30324161-30324162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112441649	chr22:30324164-30324165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76406511	chr22:30324176-30324177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs66896756	chr22:30324179-30324180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149052671	chr22:30324181-30324182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185639265	chr22:30324200-30324201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558279632	chr22:30324216-30324217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375256871	chr22:30324227-30324228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368771294	chr22:30324250-30324251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189527381	chr22:30324306-30324307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545400015	chr22:30324324-30324325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560279341	chr22:30324344-30324345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113528573	chr22:30324367-30324368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544280294	chr22:30324399-30324400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116339503	chr22:30324403-30324404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147345033	chr22:30324435-30324436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140218390	chr22:30324444-30324445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111317522	chr22:30324449-30324450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550107474	chr22:30324525-30324526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182227286	chr22:30324559-30324560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147309415	chr22:30324570-30324571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187586270	chr22:30324573-30324574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529881705	chr22:30324594-30324595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565862680	chr22:30324618-30324619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536476464	chr22:30324619-30324620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548299657	chr22:30324620-30324621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569694441	chr22:30324630-30324631	Weak transcription	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:958 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

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	chr22:30311600-30324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:30311800-30340400	Weak transcription	HSMM	muscle
8	chr22:30312600-30326400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr22:30312600-30339800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr22:30313000-30343800	Weak transcription	Fetal Stomach	stomach
11	chr22:30313600-30339800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
13	chr22:30314200-30334200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr22:30314400-30328200	Weak transcription	Osteobl	bone
15	chr22:30314600-30329200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr22:30318000-30334000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:30319800-30329800	Weak transcription	Right Atrium	heart
18	chr22:30319800-30333800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr22:30320400-30328200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:30320400-30331200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr22:30320400-30333800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr22:30320600-30339800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr22:30321200-30329000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr22:30321400-30326400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr22:30321400-30328000	Weak transcription	Colon Smooth Muscle	Colon
26	chr22:30321400-30330200	Weak transcription	Left Ventricle	heart
27	chr22:30321400-30331200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr22:30321400-30339800	Weak transcription	Lung	lung
29	chr22:30321800-30326400	Weak transcription	Ovary	ovary
30	chr22:30321800-30326400	Weak transcription	Psoas Muscle	Psoas
31	chr22:30321800-30334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr22:30322000-30328000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr22:30322000-30332200	Weak transcription	Fetal Intestine Small	intestine
34	chr22:30322600-30327800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:30323000-30324000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr22:30323200-30324400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr22:30323600-30323800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr22:30323800-30326600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr22:30324200-30324400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr22:30324400-30337800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr22:30324600-30328400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:30325200-30328400	Weak transcription	Adipose Nuclei	Adipose
43	chr22:30326400-30326800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr22:30326400-30326800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr22:30326400-30326800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr22:30326400-30327000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr22:30326400-30327600	Enhancers	Pancreas	Pancrea
48	chr22:30326400-30327800	Enhancers	Psoas Muscle	Psoas
49	chr22:30326400-30328000	Enhancers	Ovary	ovary
50	chr22:30326600-30326800	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links