Variant report

Variant	nsv914974
Chromosome Location	chr22:31249333-31279536
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:554)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:31268323-31268457	K562	blood:	n/a	n/a
2	ARID3A	chr22:31277475-31277837	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:31277504-31277780	K562	blood:	n/a	n/a
4	ATF1	chr22:31268259-31268492	K562	blood:	n/a	n/a
5	ATF1	chr22:31266310-31266592	K562	blood:	n/a	n/a
6	ATF3	chr22:31274998-31275238	K562	blood:	n/a	n/a
7	BHLHE40	chr22:31264700-31264890	K562	blood:	n/a	n/a
8	BHLHE40	chr22:31268223-31268613	K562	blood:	n/a	n/a
9	BHLHE40	chr22:31266323-31266728	K562	blood:	n/a	n/a
10	BHLHE40	chr22:31277413-31278151	K562	blood:	n/a	n/a
11	BRCA1	chr22:31277712-31277724	HepG2	liver:	n/a	n/a
12	CBX3	chr22:31277388-31277858	K562	blood:	n/a	n/a
13	CCNT2	chr22:31277450-31277867	K562	blood:	n/a	n/a
14	CEBPB	chr22:31268399-31268500	K562	blood:	n/a	n/a
15	CEBPB	chr22:31253555-31253755	K562	blood:	n/a	n/a
16	CEBPB	chr22:31253534-31253877	HepG2	liver:	n/a	n/a
17	CEBPB	chr22:31253565-31253862	K562	blood:	n/a	n/a
18	CEBPB	chr22:31253526-31253846	A549	lung:	n/a	n/a
19	CEBPB	chr22:31259384-31259388	K562	blood:	n/a	n/a
20	CEBPB	chr22:31253532-31253866	IMR90	lung:	n/a	n/a
21	CEBPB	chr22:31253577-31253775	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPD	chr22:31277898-31278215	HepG2	liver:	n/a	n/a
23	CEBPD	chr22:31277420-31277783	K562	blood:	n/a	n/a
24	CHD2	chr22:31277681-31277769	HepG2	liver:	n/a	n/a
25	CHD2	chr22:31277323-31277539	K562	blood:	n/a	n/a
26	CTCF	chr22:31262895-31263054	Gliobla	brain:	n/a	n/a
27	CTCF	chr22:31259219-31259582	K562	blood:	n/a	chr22:31259426-31259439
28	CTCF	chr22:31250920-31251070	GM12873	blood:	n/a	n/a
29	CTCF	chr22:31262900-31263050	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr22:31259343-31259444	Fibrobl	skin:	n/a	chr22:31259426-31259439
31	CTCF	chr22:31262933-31262946	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr22:31262820-31262970	GM12864	blood:	n/a	n/a
33	CTCF	chr22:31253600-31253750	GM12875	blood:	n/a	n/a
34	CTCF	chr22:31262820-31262970	HPF	lung:	n/a	n/a
35	CTCF	chr22:31262920-31263070	GM12871	blood:	n/a	n/a
36	CTCF	chr22:31262893-31263034	GM19238	blood:	n/a	n/a
37	CTCF	chr22:31262920-31263070	HCT-116	colon:	n/a	n/a
38	CTCF	chr22:31262882-31263051	MCF-7	breast:	n/a	n/a
39	CTCF	chr22:31278380-31278530	Caco-2	colon:	n/a	n/a
40	CTCF	chr22:31259340-31259490	HBMEC	blood vessel:	n/a	chr22:31259426-31259439
41	CTCF	chr22:31262879-31263061	GM12891	blood:	n/a	n/a
42	CTCF	chr22:31262855-31263055	GM12878	blood:	n/a	n/a
43	CTCF	chr22:31262840-31262990	BE2_C	brain:	n/a	n/a
44	CTCF	chr22:31259188-31259567	HepG2	liver:	n/a	chr22:31259426-31259439
45	CTCF	chr22:31278432-31278469	K562	blood:	n/a	n/a
46	CTCF	chr22:31262880-31263030	HMEC	breast:	n/a	n/a
47	CTCF	chr22:31262880-31263030	HMF	breast:	n/a	n/a
48	CTCF	chr22:31278280-31278430	NHEK	skin:	n/a	n/a
49	CTCF	chr22:31272060-31272210	HMEC	breast:	n/a	n/a
50	CTCF	chr22:31262960-31263110	HAc	cerebellar:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31243791..31245412-chr22:31253672..31256653,2	K562	blood:
2	chr22:31278602..31281426-chr22:31284915..31287242,4	K562	blood:
3	chr22:31264858..31267090-chr22:31269801..31273522,3	K562	blood:
4	chr22:31267836..31272523-chr22:31274203..31280093,6	K562	blood:
5	chr22:31260328..31263465-chr22:31265387..31269204,3	K562	blood:
6	chr22:31263194..31265468-chr22:31276146..31279208,3	K562	blood:
7	chr22:31268537..31270740-chr22:31271570..31273370,2	K562	blood:
8	chr22:31211911..31214800-chr22:31262284..31264572,2	MCF-7	breast:
9	chr22:31245927..31247645-chr22:31251008..31252966,2	K562	blood:
10	chr22:31260328..31263465-chr22:31265387..31269204,3	K562	blood:
11	chr22:31264858..31267090-chr22:31269801..31273522,3	K562	blood:
12	chr22:31224247..31227135-chr22:31248254..31250701,2	MCF-7	breast:
13	chr22:31197932..31200632-chr22:31277556..31279814,2	K562	blood:
14	chr22:31268537..31270740-chr22:31271570..31273370,2	K562	blood:
15	chr22:31200754..31202579-chr22:31251210..31252775,2	MCF-7	breast:
16	chr22:31275930..31278516-chr22:31475630..31478083,2	K562	blood:
17	chr22:31275934..31283484-chr22:31284259..31290179,9	K562	blood:

No data

Variant related genes	Relation type
OSBP2	TF binding region
ENSG00000184792	chromatin interactions
ENSG00000183963	chromatin interactions

Extended variants
information (count: 1276 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1276 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2413001	chr22:31249333-31249334	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542813077	chr22:31249341-31249342	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs146622109	chr22:31249390-31249391	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs376716910	chr22:31249414-31249415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531794730	chr22:31249464-31249465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545259129	chr22:31249471-31249472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182223887	chr22:31249546-31249547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532767710	chr22:31249547-31249548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546608467	chr22:31249601-31249602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61049226	chr22:31249602-31249603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529030285	chr22:31249610-31249611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186952388	chr22:31249629-31249630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569038985	chr22:31249709-31249710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538061478	chr22:31249731-31249732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35208155	chr22:31249762-31249763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398036856	chr22:31249773-31249774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558063971	chr22:31249787-31249788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571553458	chr22:31249798-31249799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533933220	chr22:31249838-31249839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554188442	chr22:31249839-31249840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191421664	chr22:31249849-31249850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532236198	chr22:31249936-31249937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542668289	chr22:31249937-31249938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568053026	chr22:31249940-31249941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530605144	chr22:31249947-31249948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552020181	chr22:31249967-31249968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576199552	chr22:31249975-31249976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57084031	chr22:31249995-31249996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565422937	chr22:31249997-31249998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572739277	chr22:31250037-31250038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76673453	chr22:31250049-31250050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149656984	chr22:31250102-31250103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560047729	chr22:31250105-31250106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs5749174	chr22:31250175-31250176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183697712	chr22:31250200-31250201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549072397	chr22:31250257-31250258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377003736	chr22:31250284-31250285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370587547	chr22:31250291-31250292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558928046	chr22:31250294-31250295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34930484	chr22:31250296-31250297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10618386	chr22:31250312-31250313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562600320	chr22:31250321-31250322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35760323	chr22:31250340-31250341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186905306	chr22:31250361-31250362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs5749175	chr22:31250371-31250372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551644841	chr22:31250446-31250447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145451573	chr22:31250484-31250485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534049476	chr22:31250576-31250577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548182044	chr22:31250592-31250593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547388552	chr22:31250618-31250619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
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
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20858604	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31238600-31251200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr22:31245600-31250800	Weak transcription	Hela-S3	cervix
3	chr22:31249000-31249400	ZNF genes & repeats	HSMM	muscle
4	chr22:31249000-31249400	ZNF genes & repeats	NHEK	skin
5	chr22:31249000-31250800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:31249200-31256400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr22:31249400-31251800	Weak transcription	NHEK	skin
8	chr22:31249400-31259000	Weak transcription	HSMM	muscle
9	chr22:31250800-31251200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr22:31250800-31251400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr22:31250800-31251600	Strong transcription	Hela-S3	cervix
12	chr22:31251000-31252200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr22:31251200-31251600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:31251200-31253400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr22:31251400-31251800	Enhancers	Fetal Muscle Leg	muscle
16	chr22:31251400-31251800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr22:31251400-31252200	Enhancers	Psoas Muscle	Psoas
18	chr22:31251400-31252400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr22:31251600-31251800	Weak transcription	Brain Angular Gyrus	brain
20	chr22:31251600-31252000	Genic enhancers	Hela-S3	cervix
21	chr22:31251600-31252200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr22:31251600-31256800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:31251800-31252000	Enhancers	Brain Angular Gyrus	brain
24	chr22:31251800-31252400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr22:31251800-31252400	Enhancers	NHEK	skin
26	chr22:31251800-31264200	Weak transcription	Fetal Muscle Leg	muscle
27	chr22:31252000-31252200	Enhancers	Brain Hippocampus Middle	brain
28	chr22:31252000-31252200	Enhancers	Fetal Muscle Trunk	muscle
29	chr22:31252000-31252400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr22:31252000-31253400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr22:31252000-31255000	Weak transcription	Hela-S3	cervix
32	chr22:31252000-31256600	Weak transcription	Brain Angular Gyrus	brain
33	chr22:31252200-31252800	Weak transcription	Brain Hippocampus Middle	brain
34	chr22:31252200-31255000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr22:31252200-31255000	Weak transcription	Psoas Muscle	Psoas
36	chr22:31252200-31255000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr22:31252400-31252800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr22:31252400-31255000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr22:31252400-31255000	Weak transcription	NHEK	skin
40	chr22:31252800-31253000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr22:31252800-31253000	Enhancers	Fetal Muscle Trunk	muscle
42	chr22:31252800-31253200	Enhancers	HUVEC	blood vessel
43	chr22:31252800-31253400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr22:31252800-31253400	Enhancers	Brain Hippocampus Middle	brain
45	chr22:31252800-31253400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr22:31252800-31253800	Enhancers	Fetal Lung	lung
47	chr22:31253000-31253400	Enhancers	Lung	lung
48	chr22:31253000-31253800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr22:31253400-31256400	Weak transcription	Brain Hippocampus Middle	brain
50	chr22:31253400-31256600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links