Variant report

Variant	nsv1058511
Chromosome Location	chr22:30330447-30361881
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:229)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:229 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:30347797-30348766	K562	blood:	n/a	n/a
2	ARID3A	chr22:30350226-30350571	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	chr22:30351926-30352244	GM12878	blood:	n/a	n/a
11	BCL3	chr22:30350255-30350578	GM12878	blood:	n/a	n/a
12	BCL3	chr22:30351966-30352212	GM12878	blood:	n/a	n/a
13	BCLAF1	chr22:30334167-30334610	GM12878	blood:	n/a	n/a
14	BHLHE40	chr22:30341126-30341176	K562	blood:	n/a	n/a
15	BHLHE40	chr22:30342276-30342537	K562	blood:	n/a	n/a
16	BHLHE40	chr22:30348005-30348450	K562	blood:	n/a	n/a
17	BHLHE40	chr22:30350297-30350667	K562	blood:	n/a	chr22:30350654-30350667 chr22:30350656-30350665 chr22:30350656-30350665
18	CCNT2	chr22:30348042-30348819	K562	blood:	n/a	chr22:30348262-30348282
19	CEBPB	chr22:30351996-30352267	IMR90	lung:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
20	CEBPB	chr22:30350241-30350573	K562	blood:	n/a	n/a
21	CEBPB	chr22:30352024-30352234	Hela-S3	cervix:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
22	CEBPB	chr22:30352046-30352234	HepG2	liver:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
23	CEBPB	chr22:30351709-30351868	K562	blood:	n/a	n/a
24	CEBPB	chr22:30344613-30344652	IMR90	lung:	n/a	n/a
25	CEBPB	chr22:30350269-30350618	K562	blood:	n/a	n/a
26	CEBPB	chr22:30347901-30348464	K562	blood:	n/a	n/a
27	CEBPB	chr22:30352005-30352254	MCF-7	breast:	n/a	chr22:30352135-30352146 chr22:30352133-30352146
28	CEBPB	chr22:30350430-30350453	IMR90	lung:	n/a	n/a
29	CEBPB	chr22:30347970-30348719	K562	blood:	n/a	n/a
30	CEBPD	chr22:30347977-30348593	K562	blood:	n/a	n/a
31	CEBPD	chr22:30347982-30348604	K562	blood:	n/a	n/a
32	CHD1	chr22:30337298-30337745	IMR90	lung:	n/a	n/a
33	CTCF	chr22:30344964-30344985	GM20000	blood:	n/a	n/a
34	CTCF	chr22:30342360-30342510	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr22:30345007-30345024	GM20000	blood:	n/a	n/a
36	CTCF	chr22:30341620-30341653	ProgFib	skin:	n/a	n/a
37	CTCF	chr22:30344991-30344995	GM20000	blood:	n/a	n/a
38	CUX1	chr22:30342272-30342449	K562	blood:	n/a	n/a
39	CUX1	chr22:30347640-30348434	K562	blood:	n/a	chr22:30348155-30348169
40	CUX1	chr22:30334257-30334372	K562	blood:	n/a	n/a
41	E2F6	chr22:30347922-30348133	K562	blood:	n/a	n/a
42	EBF1	chr22:30334272-30334647	GM12878	blood:	n/a	n/a
43	EBF1	chr22:30334071-30334484	GM12878	blood:	n/a	n/a
44	EGR1	chr22:30347834-30348075	K562	blood:	n/a	n/a
45	EGR1	chr22:30347831-30348115	K562	blood:	n/a	n/a
46	ELK1	chr22:30333936-30334199	K562	blood:	n/a	n/a
47	EP300	chr22:30334068-30334465	K562	blood:	n/a	n/a
48	EP300	chr22:30345701-30345852	K562	blood:	n/a	n/a
49	EP300	chr22:30340560-30340574	K562	blood:	n/a	n/a
50	EP300	chr22:30348111-30348497	K562	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30346859..30350735-chr22:30351458..30355335,4	K562	blood:
2	chr22:30354232..30357040-chr22:30359607..30363424,3	MCF-7	breast:
3	chr22:30349519..30352332-chr22:30354507..30356583,2	MCF-7	breast:
4	chr22:30346859..30350735-chr22:30351458..30355335,4	K562	blood:
5	chr22:30353695..30355711-chr22:30356514..30358241,2	MCF-7	breast:
6	chr22:30349519..30352332-chr22:30354507..30356583,2	MCF-7	breast:
7	chr22:30353123..30354651-chr22:30355754..30358455,2	MCF-7	breast:
8	chr22:30353123..30354651-chr22:30355754..30358455,2	MCF-7	breast:
9	chr22:30330994..30332769-chr22:30343214..30346064,2	MCF-7	breast:
10	chr22:30330994..30332769-chr22:30343214..30346064,2	MCF-7	breast:
11	chr22:30348834..30351665-chr22:30352625..30356782,4	K562	blood:
12	chr22:30348834..30351665-chr22:30352625..30356782,4	K562	blood:
13	chr22:30353695..30355711-chr22:30356514..30358241,2	MCF-7	breast:
14	chr22:30354232..30357040-chr22:30359607..30363424,3	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: 1324 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1324 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149196045	chr22:30330541-30330542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184403963	chr22:30330565-30330566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189035993	chr22:30330577-30330578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372744552	chr22:30330590-30330591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547033723	chr22:30330615-30330616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553951629	chr22:30330641-30330642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181140987	chr22:30330650-30330651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542773233	chr22:30330706-30330707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566967804	chr22:30330822-30330823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532711453	chr22:30330833-30330834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531634258	chr22:30330846-30330847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543695862	chr22:30330914-30330915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565216012	chr22:30330929-30330930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11702977	chr22:30330952-30330953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532457452	chr22:30331001-30331002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114919940	chr22:30331005-30331006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141271034	chr22:30331041-30331042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548812653	chr22:30331050-30331051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185629653	chr22:30331059-30331060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548008800	chr22:30331104-30331105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367715533	chr22:30331132-30331133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73396902	chr22:30331139-30331140	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113423220	chr22:30331160-30331161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571564331	chr22:30331180-30331181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371924510	chr22:30331198-30331199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538970718	chr22:30331237-30331238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553916139	chr22:30331249-30331250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572341363	chr22:30331261-30331262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs5763614	chr22:30331290-30331291	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs554810361	chr22:30331295-30331296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73398604	chr22:30331314-30331315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543409059	chr22:30331343-30331344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565283325	chr22:30331352-30331353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577181199	chr22:30331382-30331383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180906710	chr22:30331480-30331481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17644868	chr22:30331498-30331499	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs549184567	chr22:30331531-30331532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548259077	chr22:30331532-30331533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563196593	chr22:30331544-30331545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146956194	chr22:30331545-30331546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113914778	chr22:30331551-30331552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17644886	chr22:30331553-30331554	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs117760358	chr22:30331577-30331578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577663402	chr22:30331593-30331594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192363504	chr22:30331610-30331611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369954919	chr22:30331662-30331663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182938564	chr22:30331700-30331701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115758385	chr22:30331708-30331709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35840801	chr22:30331731-30331732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs60689555	chr22:30331732-30331733	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:820 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30311000-30333200	Weak transcription	Primary B cells from cord blood	blood
2	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:30311800-30340400	Weak transcription	HSMM	muscle
4	chr22:30312600-30339800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr22:30313000-30343800	Weak transcription	Fetal Stomach	stomach
6	chr22:30313600-30339800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
8	chr22:30314200-30334200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:30318000-30334000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:30319800-30333800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr22:30320400-30331200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr22:30320400-30333800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:30320600-30339800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr22:30321400-30331200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr22:30321400-30339800	Weak transcription	Lung	lung
16	chr22:30321800-30334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr22:30322000-30332200	Weak transcription	Fetal Intestine Small	intestine
18	chr22:30324400-30337800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr22:30326800-30330600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr22:30327600-30331800	Weak transcription	Pancreas	Pancrea
21	chr22:30327600-30342200	Weak transcription	Brain Angular Gyrus	brain
22	chr22:30328200-30333800	Weak transcription	Primary T cells from cord blood	blood
23	chr22:30328400-30332000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr22:30328400-30333800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr22:30328400-30343600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr22:30328400-30351800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr22:30328600-30331200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr22:30328600-30331200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr22:30328600-30331200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:30328600-30332200	Weak transcription	Adipose Nuclei	Adipose
31	chr22:30328600-30332400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr22:30328800-30333400	Weak transcription	GM12878-XiMat	blood
33	chr22:30329000-30331400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr22:30329000-30332000	Weak transcription	HUVEC	blood vessel
35	chr22:30329200-30331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:30329400-30331400	Enhancers	Brain Substantia Nigra	brain
37	chr22:30329800-30331000	Enhancers	Ovary	ovary
38	chr22:30329800-30332200	Weak transcription	Brain Anterior Caudate	brain
39	chr22:30330200-30330600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr22:30330400-30330600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr22:30330400-30330600	Enhancers	A549	lung
42	chr22:30330400-30330800	Enhancers	Fetal Heart	heart
43	chr22:30330400-30331000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr22:30330400-30331800	Weak transcription	Left Ventricle	heart
45	chr22:30330400-30331800	Weak transcription	Psoas Muscle	Psoas
46	chr22:30330400-30332000	Weak transcription	Brain Hippocampus Middle	brain
47	chr22:30330400-30333800	Weak transcription	Right Atrium	heart
48	chr22:30330600-30330800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr22:30330600-30331600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:30330600-30331600	Weak transcription	A549	lung

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