Variant report

Variant	nsv1064489
Chromosome Location	chr22:30316627-30361881
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:251)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:251 , 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	chr22:30350226-30350571	K562	blood:	n/a	n/a
2	ARID3A	chr22:30347797-30348766	K562	blood:	n/a	n/a
3	ARID3A	chr22:30334129-30334355	K562	blood:	n/a	n/a
4	ATF1	chr22:30350281-30350497	K562	blood:	n/a	n/a
5	ATF3	chr22:30334179-30334497	K562	blood:	n/a	n/a
6	BACH1	chr22:30334166-30334493	K562	blood:	n/a	n/a
7	BATF	chr22:30334164-30334673	GM12878	blood:	n/a	chr22:30334371-30334382
8	BATF	chr22:30334136-30334511	GM12878	blood:	n/a	chr22:30334371-30334382
9	BCL3	chr22:30334279-30334714	GM12878	blood:	n/a	n/a
10	BCL3	chr22:30351966-30352212	GM12878	blood:	n/a	n/a
11	BCL3	chr22:30350255-30350578	GM12878	blood:	n/a	n/a
12	BCL3	chr22:30351926-30352244	GM12878	blood:	n/a	n/a
13	BCLAF1	chr22:30334167-30334610	GM12878	blood:	n/a	n/a
14	BHLHE40	chr22:30350297-30350667	K562	blood:	n/a	chr22:30350654-30350667 chr22:30350656-30350665 chr22:30350656-30350665
15	BHLHE40	chr22:30342276-30342537	K562	blood:	n/a	n/a
16	BHLHE40	chr22:30348005-30348450	K562	blood:	n/a	n/a
17	BHLHE40	chr22:30341126-30341176	K562	blood:	n/a	n/a
18	CCNT2	chr22:30348042-30348819	K562	blood:	n/a	chr22:30348262-30348282
19	CEBPB	chr22:30344613-30344652	IMR90	lung:	n/a	n/a
20	CEBPB	chr22:30350241-30350573	K562	blood:	n/a	n/a
21	CEBPB	chr22:30351709-30351868	K562	blood:	n/a	n/a
22	CEBPB	chr22:30352024-30352234	Hela-S3	cervix:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
23	CEBPB	chr22:30352046-30352234	HepG2	liver:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
24	CEBPB	chr22:30347970-30348719	K562	blood:	n/a	n/a
25	CEBPB	chr22:30350430-30350453	IMR90	lung:	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	chr22:30350269-30350618	K562	blood:	n/a	n/a
29	CEBPB	chr22:30352005-30352254	MCF-7	breast:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
30	CEBPD	chr22:30347982-30348604	K562	blood:	n/a	n/a
31	CEBPD	chr22:30347977-30348593	K562	blood:	n/a	n/a
32	CHD1	chr22:30337298-30337745	IMR90	lung:	n/a	n/a
33	CHD1	chr22:30328322-30328334	GM12878	blood:	n/a	n/a
34	CTCF	chr22:30328983-30329056	GM13977	blood:	n/a	n/a
35	CTCF	chr22:30324980-30325130	GM12878	blood:	n/a	n/a
36	CTCF	chr22:30344964-30344985	GM20000	blood:	n/a	n/a
37	CTCF	chr22:30342360-30342510	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr22:30344991-30344995	GM20000	blood:	n/a	n/a
39	CTCF	chr22:30345007-30345024	GM20000	blood:	n/a	n/a
40	CTCF	chr22:30318266-30318312	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr22:30341620-30341653	ProgFib	skin:	n/a	n/a
42	CUX1	chr22:30334257-30334372	K562	blood:	n/a	n/a
43	CUX1	chr22:30347640-30348434	K562	blood:	n/a	chr22:30348155-30348169
44	CUX1	chr22:30342272-30342449	K562	blood:	n/a	n/a
45	E2F4	chr22:30329379-30329565	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F6	chr22:30347922-30348133	K562	blood:	n/a	n/a
47	EBF1	chr22:30334272-30334647	GM12878	blood:	n/a	n/a
48	EBF1	chr22:30334071-30334484	GM12878	blood:	n/a	n/a
49	EGR1	chr22:30347831-30348115	K562	blood:	n/a	n/a
50	EGR1	chr22:30347834-30348075	K562	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30330994..30332769-chr22:30343214..30346064,2	MCF-7	breast:
2	chr22:30354232..30357040-chr22:30359607..30363424,3	MCF-7	breast:
3	chr22:30346859..30350735-chr22:30351458..30355335,4	K562	blood:
4	chr22:30353695..30355711-chr22:30356514..30358241,2	MCF-7	breast:
5	chr22:30349519..30352332-chr22:30354507..30356583,2	MCF-7	breast:
6	chr22:30315834..30317448-chr22:30319842..30321768,2	MCF-7	breast:
7	chr22:30353695..30355711-chr22:30356514..30358241,2	MCF-7	breast:
8	chr22:30346859..30350735-chr22:30351458..30355335,4	K562	blood:
9	chr22:30315541..30318524-chr22:30322847..30324530,2	MCF-7	breast:
10	chr22:30314351..30317340-chr22:30321857..30323979,2	K562	blood:
11	chr22:30348834..30351665-chr22:30352625..30356782,4	K562	blood:
12	chr22:30349519..30352332-chr22:30354507..30356583,2	MCF-7	breast:
13	chr22:30348834..30351665-chr22:30352625..30356782,4	K562	blood:
14	chr22:30353123..30354651-chr22:30355754..30358455,2	MCF-7	breast:
15	chr22:30315834..30317448-chr22:30319842..30321768,2	MCF-7	breast:
16	chr22:30314351..30317340-chr22:30321857..30323979,2	K562	blood:
17	chr22:30315541..30318524-chr22:30322847..30324530,2	MCF-7	breast:
18	chr22:30353123..30354651-chr22:30355754..30358455,2	MCF-7	breast:
19	chr22:30354232..30357040-chr22:30359607..30363424,3	MCF-7	breast:
20	chr22:30330994..30332769-chr22:30343214..30346064,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HORMAD2-6	chr22:30353025-30353077	NONHSAT084740

No data

Variant related genes	Relation type
ENSG00000221736	TF binding region

Extended variants
information (count: 1877 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1877 , 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	rs192529863	chr22:30316648-30316649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140243375	chr22:30316661-30316662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535936588	chr22:30316679-30316680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368281400	chr22:30316681-30316682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549044588	chr22:30316767-30316768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567467655	chr22:30316886-30316887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531588226	chr22:30316920-30316921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554695706	chr22:30316970-30316971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150260217	chr22:30316971-30316972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555770910	chr22:30317018-30317019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184386850	chr22:30317022-30317023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572495517	chr22:30317027-30317028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145510100	chr22:30317042-30317043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576194856	chr22:30317045-30317046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74852033	chr22:30317083-30317084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147697624	chr22:30317118-30317119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188930945	chr22:30317139-30317140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79222845	chr22:30317216-30317217	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576168773	chr22:30317231-30317232	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113424604	chr22:30317288-30317289	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569525874	chr22:30317321-30317322	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199846029	chr22:30317335-30317336	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112268766	chr22:30317343-30317344	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558561686	chr22:30317356-30317357	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140973492	chr22:30317384-30317385	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375239097	chr22:30317386-30317387	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28649938	chr22:30317413-30317414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150199825	chr22:30317455-30317456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560869455	chr22:30317474-30317475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117423591	chr22:30317477-30317478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199815230	chr22:30317523-30317524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs398036814	chr22:30317524-30317525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184808235	chr22:30317528-30317529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117275950	chr22:30317552-30317553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549884286	chr22:30317555-30317556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528890102	chr22:30317594-30317595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565098473	chr22:30317607-30317608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188884995	chr22:30317689-30317690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541947347	chr22:30317703-30317704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574329003	chr22:30317734-30317735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547351467	chr22:30317735-30317736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566009193	chr22:30317749-30317750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181689480	chr22:30317823-30317824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368626213	chr22:30317849-30317850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569891025	chr22:30317860-30317861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138705757	chr22:30317874-30317875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558722203	chr22:30317923-30317924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576743242	chr22:30317926-30317927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534662267	chr22:30317978-30317979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112963907	chr22:30317986-30317987	Weak transcription Enhancers	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:980 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr22:30304400-30321000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr22:30305600-30327400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr22:30307400-30321000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr22:30307400-30321200	Weak transcription	Esophagus	oesophagus
6	chr22:30309200-30317200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:30309200-30326400	Weak transcription	Pancreas	Pancrea
8	chr22:30309400-30319600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr22:30310000-30327600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr22:30310200-30319400	Weak transcription	Right Atrium	heart
11	chr22:30310200-30321000	Weak transcription	Lung	lung
12	chr22:30310800-30321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr22:30311000-30333200	Weak transcription	Primary B cells from cord blood	blood
14	chr22:30311600-30324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:30311800-30340400	Weak transcription	HSMM	muscle
17	chr22:30312400-30322800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr22:30312600-30321000	Weak transcription	Right Ventricle	heart
19	chr22:30312600-30326400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr22:30312600-30339800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr22:30313000-30323600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr22:30313000-30343800	Weak transcription	Fetal Stomach	stomach
23	chr22:30313400-30317200	Weak transcription	Ovary	ovary
24	chr22:30313600-30321000	Weak transcription	Left Ventricle	heart
25	chr22:30313600-30339800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
27	chr22:30314200-30319600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr22:30314200-30319600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr22:30314200-30321200	Weak transcription	Brain Angular Gyrus	brain
30	chr22:30314200-30334200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr22:30314400-30317000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr22:30314400-30319600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr22:30314400-30328200	Weak transcription	Osteobl	bone
34	chr22:30314600-30319400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr22:30314600-30319400	Weak transcription	Adipose Nuclei	Adipose
36	chr22:30314600-30321200	Weak transcription	Brain Hippocampus Middle	brain
37	chr22:30314600-30329200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr22:30314800-30319400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr22:30315600-30317800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr22:30315600-30319600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr22:30315800-30317000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr22:30315800-30317000	Weak transcription	Psoas Muscle	Psoas
43	chr22:30315800-30319600	Weak transcription	Colon Smooth Muscle	Colon
44	chr22:30315800-30321000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr22:30316000-30320200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr22:30316600-30316800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr22:30316600-30317200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr22:30317000-30317400	Enhancers	Psoas Muscle	Psoas
49	chr22:30317000-30317400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr22:30317000-30318000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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