Variant report

Variant	nsv964619
Chromosome Location	chr22:30440663-30444496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr22:30440388-30440689	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr22:30440400-30440708	IMR90	lung:	n/a	n/a
3	CEBPB	chr22:30440362-30440900	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr22:30443460-30443552	HepG2	liver:	n/a	n/a
5	CTCF	chr22:30443460-30443610	NHLF	lung:	n/a	n/a
6	CTCF	chr22:30443420-30443570	HepG2	liver:	n/a	n/a
7	CTCF	chr22:30443400-30443550	HL-60	blood:	n/a	n/a
8	CTCF	chr22:30443438-30443564	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr22:30443160-30443310	HRE	kidney:	n/a	n/a
10	CTCF	chr22:30443420-30443586	GM12878	blood:	n/a	n/a
11	CTCF	chr22:30443477-30443538	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr22:30443482-30443574	GM12891	blood:	n/a	n/a
13	CTCF	chr22:30443500-30443650	GM12871	blood:	n/a	n/a
14	CTCF	chr22:30443480-30443630	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr22:30443420-30443570	HCM	heart:	n/a	n/a
16	CTCF	chr22:30443380-30443530	AG04450	lung:	n/a	n/a
17	CTCF	chr22:30443490-30443539	MCF-7	breast:	n/a	n/a
18	CTCF	chr22:30443400-30443690	GM12868	blood:	n/a	n/a
19	CTCF	chr22:30443458-30443598	NHEK	skin:	n/a	n/a
20	CTCF	chr22:30443420-30443570	GM12875	blood:	n/a	n/a
21	CTCF	chr22:30443453-30443589	K562	blood:	n/a	n/a
22	CTCF	chr22:30443400-30443550	HepG2	liver:	n/a	n/a
23	CTCF	chr22:30443464-30443572	GM12878	blood:	n/a	n/a
24	CTCF	chr22:30443488-30443561	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr22:30443360-30443510	GM12869	blood:	n/a	n/a
26	CTCF	chr22:30443485-30443627	Lung_OC	lung:	n/a	n/a
27	CTCF	chr22:30443480-30443630	HA-sp	spinal cord:	n/a	n/a
28	CTCF	chr22:30441880-30442030	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr22:30443440-30443590	GM12873	blood:	n/a	n/a
30	CTCF	chr22:30443420-30443570	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr22:30443520-30443670	GM12873	blood:	n/a	n/a
32	CTCF	chr22:30443486-30443566	MCF-7	breast:	n/a	n/a
33	CTCF	chr22:30443420-30443570	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr22:30443500-30443650	NHDF-neo	bronchial:	n/a	n/a
35	CTCF	chr22:30443420-30443570	NB4	blood:	n/a	n/a
36	E2F6	chr22:30443413-30443600	K562	blood:	n/a	n/a
37	ELF1	chr22:30443363-30443717	K562	blood:	n/a	chr22:30443566-30443579
38	EP300	chr22:30440382-30440829	Hela-S3	cervix:	n/a	chr22:30440557-30440566
39	EP300	chr22:30440201-30440787	SK-N-SH_RA	brain:	n/a	chr22:30440557-30440566
40	EP300	chr22:30440220-30440765	SK-N-SH_RA	brain:	n/a	chr22:30440557-30440566
41	EP300	chr22:30440276-30440830	T-47D	breast:	n/a	chr22:30440557-30440566
42	EP300	chr22:30440184-30440906	SK-N-SH	brain:	n/a	chr22:30440557-30440566
43	EP300	chr22:30440026-30440977	SK-N-SH	brain:	n/a	chr22:30440038-30440052 chr22:30440557-30440566
44	ESR1	chr22:30440160-30440665	T-47D	breast:	n/a	chr22:30440373-30440388
45	ESR1	chr22:30440113-30440752	T-47D	breast:	n/a	chr22:30440373-30440388
46	FOS	chr22:30440352-30440742	Hela-S3	cervix:	n/a	chr22:30440557-30440566 chr22:30440558-30440569 chr22:30440557-30440564 chr22:30440556-30440567 chr22:30440555-30440566
47	FOS	chr22:30440343-30440846	MCF10A-Er-Src	breast:	n/a	chr22:30440557-30440566 chr22:30440558-30440569 chr22:30440557-30440564 chr22:30440556-30440567 chr22:30440555-30440566
48	FOS	chr22:30440346-30440751	MCF10A-Er-Src	breast:	n/a	chr22:30440557-30440566 chr22:30440558-30440569 chr22:30440557-30440564 chr22:30440556-30440567 chr22:30440555-30440566
49	FOS	chr22:30440388-30440751	MCF10A-Er-Src	breast:	n/a	chr22:30440557-30440566 chr22:30440558-30440569 chr22:30440557-30440564 chr22:30440556-30440567 chr22:30440555-30440566
50	FOS	chr22:30440366-30440769	HUVEC	blood vessel:	n/a	chr22:30440557-30440566 chr22:30440558-30440569 chr22:30440557-30440564 chr22:30440556-30440567 chr22:30440555-30440566

No.	Distal block	Cell Line	Cell type
1	chr22:30438959..30441360-chr22:30444490..30446436,2	K562	blood:
2	chr22:30438959..30441360-chr22:30444490..30446436,2	K562	blood:
3	chr22:30431981..30436228-chr22:30436988..30442132,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LIF-2	chr22:30443614-30443900	ENSG00000227117.2
2	lnc-LIF-2	chr22:30443853-30443900	NONHSAT084756

Variant related genes	Relation type
CNN2P1	TF binding region

Extended variants
information (count: 140 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377337330	chr22:30440722-30440723	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs576915971	chr22:30440734-30440735	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs534813885	chr22:30440735-30440736	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs552827552	chr22:30440739-30440740	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs185492587	chr22:30440798-30440799	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs138253458	chr22:30440840-30440841	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs543687438	chr22:30440851-30440852	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs34466347	chr22:30440861-30440862	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs539000740	chr22:30440921-30440922	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs80109358	chr22:30440971-30440972	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs530602507	chr22:30441004-30441005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190744627	chr22:30441068-30441069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149194429	chr22:30441073-30441074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75611279	chr22:30441090-30441091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200728633	chr22:30441091-30441092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs202205519	chr22:30441103-30441104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143369862	chr22:30441156-30441157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547953447	chr22:30441193-30441194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73400627	chr22:30441198-30441199	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2010916	chr22:30441219-30441220	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs113878507	chr22:30441322-30441323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556904785	chr22:30441339-30441340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576983221	chr22:30441341-30441342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181981221	chr22:30441364-30441365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13054525	chr22:30441374-30441375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34137314	chr22:30441415-30441416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552550864	chr22:30441459-30441460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185947859	chr22:30441489-30441490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534545725	chr22:30441523-30441524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376842113	chr22:30441606-30441607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111285225	chr22:30441615-30441616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370579493	chr22:30441637-30441638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190664259	chr22:30441673-30441674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs41179	chr22:30441677-30441678	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs143356264	chr22:30441755-30441756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386820616	chr22:30441825-30441826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202050247	chr22:30441826-30441827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs398036816	chr22:30441838-30441839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181277975	chr22:30441839-30441840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545386411	chr22:30441854-30441855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111574800	chr22:30441877-30441878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs137934966	chr22:30441943-30441944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114543584	chr22:30441946-30441947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559861286	chr22:30441953-30441954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6006330	chr22:30441967-30441968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186736099	chr22:30441992-30441993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375961509	chr22:30442039-30442040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190727161	chr22:30442053-30442054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113677904	chr22:30442071-30442072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530967751	chr22:30442088-30442089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	22522925	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30423600-30447600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:30424800-30443000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr22:30425800-30442000	Weak transcription	Fetal Brain Female	brain
4	chr22:30426600-30443000	Weak transcription	Thymus	Thymus
5	chr22:30430200-30442800	Weak transcription	Spleen	Spleen
6	chr22:30430200-30449600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:30432800-30440800	Weak transcription	Fetal Stomach	stomach
8	chr22:30435000-30450600	Weak transcription	Gastric	stomach
9	chr22:30437000-30443400	Weak transcription	Esophagus	oesophagus
10	chr22:30438200-30448200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:30438800-30440800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr22:30438800-30441000	Enhancers	HUVEC	blood vessel
13	chr22:30438800-30441800	Enhancers	Fetal Intestine Large	intestine
14	chr22:30439200-30441200	Enhancers	NHDF-Ad	bronchial
15	chr22:30439200-30441400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:30439200-30441400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr22:30439400-30441600	Enhancers	Duodenum Mucosa	Duodenum
18	chr22:30439400-30441800	Enhancers	Fetal Intestine Small	intestine
19	chr22:30439600-30441000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr22:30439600-30441000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:30439600-30441000	Enhancers	HMEC	breast
22	chr22:30439600-30441000	Enhancers	NH-A	brain
23	chr22:30439600-30441000	Enhancers	NHLF	lung
24	chr22:30439600-30441200	Enhancers	NHEK	skin
25	chr22:30439600-30441400	Enhancers	Adipose Nuclei	Adipose
26	chr22:30439600-30442200	Enhancers	Stomach Mucosa	stomach
27	chr22:30439800-30440800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr22:30439800-30440800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr22:30439800-30441000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr22:30439800-30441000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr22:30439800-30441000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:30439800-30441000	Enhancers	HSMM	muscle
33	chr22:30439800-30441000	Enhancers	Osteobl	bone
34	chr22:30439800-30441200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr22:30439800-30441200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:30439800-30441200	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr22:30439800-30441600	Enhancers	Pancreas	Pancrea
38	chr22:30440000-30440800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr22:30440000-30441000	Enhancers	Fetal Lung	lung
40	chr22:30440000-30441200	Enhancers	HSMMtube	muscle
41	chr22:30440200-30441200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:30440200-30441200	Weak transcription	Fetal Muscle Leg	muscle
43	chr22:30440400-30440800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr22:30440400-30440800	Flanking Active TSS	Hela-S3	cervix
45	chr22:30440400-30441000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr22:30440400-30441000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr22:30440400-30441000	Bivalent Enhancer	Fetal Kidney	kidney
48	chr22:30440400-30441200	Enhancers	Liver	Liver
49	chr22:30440400-30441600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr22:30440600-30440800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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