Variant report

Variant	nsv1003630
Chromosome Location	chr2:21521637-21546859
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	CEBPB	chr2:21533415-21533700	K562	blood:	n/a	n/a
2	CTCF	chr2:21540140-21540290	A549	lung:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
3	CTCF	chr2:21540099-21540269	MCF-7	breast:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
4	CTCF	chr2:21539965-21540393	H1-hESC	embryonic stem cell:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
5	CTCF	chr2:21540140-21540290	GM12874	blood:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
6	CTCF	chr2:21540120-21540270	NHDF-neo	bronchial:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
7	CTCF	chr2:21540460-21540610	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr2:21539760-21539910	GM12873	blood:	n/a	n/a
9	CTCF	chr2:21540100-21540250	GM12870	blood:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
10	CTCF	chr2:21539840-21539990	GM12869	blood:	n/a	n/a
11	CTCF	chr2:21540120-21540270	GM12871	blood:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
12	CTCF	chr2:21540080-21540359	K562	blood:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
13	CTCF	chr2:21540160-21540310	HPAF	blood vessel:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
14	CTCF	chr2:21540015-21540421	GM12878	blood:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
15	CTCF	chr2:21540100-21540250	AG09319	gingival:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
16	CTCF	chr2:21540420-21540570	Caco-2	colon:	n/a	n/a
17	CTCF	chr2:21540120-21540270	GM12868	blood:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
18	CTCF	chr2:21540120-21540270	GM12875	blood:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
19	CTCF	chr2:21540086-21540341	LNCaP	prostate:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
20	CTCF	chr2:21540140-21540290	BE2_C	brain:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
21	CTCF	chr2:21540120-21540270	SK-N-SH_RA	brain:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
22	CTCF	chr2:21534951-21535040	MCF-7	breast:	n/a	n/a
23	CTCF	chr2:21540089-21540339	GM10266	blood:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
24	CTCF	chr2:21540120-21540270	GM12872	blood:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
25	CTCF	chr2:21540680-21540830	HepG2	liver:	n/a	n/a
26	CTCF	chr2:21540480-21540630	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr2:21540460-21540610	HMEC	breast:	n/a	n/a
28	CTCF	chr2:21540440-21540590	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr2:21540160-21540310	HCM	heart:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
30	CTCF	chr2:21540120-21540270	HPAF	blood vessel:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
31	CTCF	chr2:21540120-21540270	HEK293	kidney:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
32	CTCF	chr2:21540160-21540310	HA-sp	spinal cord:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
33	CTCF	chr2:21540062-21540294	GM19238	blood:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
34	CTCF	chr2:21540080-21540307	NHEK	skin:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
35	CTCF	chr2:21540140-21540290	GM12873	blood:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
36	CTCF	chr2:21540140-21540290	HRPEpiC	eye:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
37	CTCF	chr2:21540134-21540242	H1-hESC	embryonic stem cell:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
38	CTCF	chr2:21540040-21540190	AG09309	skin:	n/a	n/a
39	CTCF	chr2:21540120-21540270	RPTEC	kidney:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
40	CTCF	chr2:21540160-21540310	K562	blood:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
41	CTCF	chr2:21540100-21540250	HepG2	liver:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
42	CTCF	chr2:21540160-21540310	MCF-7	breast:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
43	CTCF	chr2:21540008-21540418	A549	lung:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
44	CTCF	chr2:21540660-21540810	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr2:21539953-21540307	H1-hESC	embryonic stem cell:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
46	CTCF	chr2:21540160-21540310	GM12878	blood:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
47	CTCF	chr2:21540120-21540270	HAc	cerebellar:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
48	CTCF	chr2:21540103-21540361	HUVEC	blood vessel:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
49	CTCF	chr2:21540120-21540270	HFF-Myc	foreskin:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217
50	CTCF	chr2:21540100-21540250	HRE	kidney:	n/a	chr2:21540200-21540218 chr2:21540202-21540215 chr2:21540195-21540216 chr2:21540201-21540217

No.	Distal block	Cell Line	Cell type
1	chr2:21526199..21527704-chr2:21529056..21531001,2	K562	blood:
2	chr2:21525802..21528435-chr2:21531977..21534023,2	K562	blood:
3	chr2:21526199..21527704-chr2:21529056..21531001,2	K562	blood:
4	chr2:21525802..21528435-chr2:21531977..21534023,2	K562	blood:
5	chr2:21538216..21541445-chr2:21542582..21545598,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC010872.2.1-3	chr2:21543275-21543366	ENSG00000231204
2	lnc-AC010872.2.1-3	chr2:21540532-21540685	ENSG00000231204

Variant related genes	Relation type
ENSG00000231204	TF binding region
ENSG00000231204	chromatin interactions

Extended variants
information (count: 931 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:931 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs418451	chr2:21521637-21521638	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577464398	chr2:21521649-21521650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546221578	chr2:21521680-21521681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547491171	chr2:21521682-21521683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374192790	chr2:21521692-21521693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562519851	chr2:21521696-21521697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531616345	chr2:21521781-21521782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189733396	chr2:21521838-21521839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181330970	chr2:21521876-21521877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561027393	chr2:21521903-21521904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570301365	chr2:21521922-21521923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547566459	chr2:21521944-21521945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539280518	chr2:21521953-21521954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs386643907	chr2:21521971-21521972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs439907	chr2:21521973-21521974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs956426	chr2:21521981-21521982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550128333	chr2:21522046-21522047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146305634	chr2:21522067-21522068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs390062	chr2:21522082-21522083	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs555463848	chr2:21522122-21522123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565773846	chr2:21522134-21522135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139969879	chr2:21522147-21522148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367635123	chr2:21522150-21522151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534468177	chr2:21522165-21522166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554335962	chr2:21522177-21522178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577393966	chr2:21522182-21522183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572073584	chr2:21522201-21522202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76400838	chr2:21522218-21522219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111429481	chr2:21522222-21522223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575986642	chr2:21522230-21522231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113617332	chr2:21522254-21522255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375894138	chr2:21522328-21522329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556127796	chr2:21522360-21522361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs425440	chr2:21522381-21522382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557927048	chr2:21522410-21522411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs380969	chr2:21522421-21522422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs144663224	chr2:21522477-21522478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190545901	chr2:21522500-21522501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574720704	chr2:21522502-21522503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550065589	chr2:21522550-21522551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181757925	chr2:21522602-21522603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76066744	chr2:21522610-21522611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563120652	chr2:21522653-21522654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576688019	chr2:21522676-21522677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35127135	chr2:21522694-21522695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs565581645	chr2:21522703-21522704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577965222	chr2:21522818-21522819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116792047	chr2:21522852-21522853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186414122	chr2:21522865-21522866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539651469	chr2:21522872-21522873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21511400-21527400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:21513000-21538200	Weak transcription	Aorta	Aorta
3	chr2:21519400-21522400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:21521600-21522200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:21524800-21526200	Enhancers	Fetal Brain Male	brain
6	chr2:21526000-21527200	Enhancers	Hela-S3	cervix
7	chr2:21526200-21526400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:21527200-21527400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:21527200-21527400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:21527400-21527800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:21529200-21529400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:21536000-21536200	Enhancers	Right Atrium	heart
13	chr2:21536400-21538800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:21536600-21537400	Enhancers	Brain Anterior Caudate	brain
15	chr2:21537000-21537400	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:21537000-21537800	Enhancers	Brain Substantia Nigra	brain
17	chr2:21537000-21539200	Enhancers	Brain Hippocampus Middle	brain
18	chr2:21537000-21540200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:21537400-21539600	Weak transcription	Brain Anterior Caudate	brain
20	chr2:21537400-21539600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:21537600-21539000	Enhancers	Colon Smooth Muscle	Colon
22	chr2:21537800-21539400	Weak transcription	Brain Substantia Nigra	brain
23	chr2:21538000-21538400	Enhancers	Ovary	ovary
24	chr2:21538000-21538400	Enhancers	Pancreas	Pancrea
25	chr2:21538000-21538400	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:21538000-21538400	Enhancers	Right Atrium	heart
27	chr2:21538000-21538600	Enhancers	Spleen	Spleen
28	chr2:21538200-21540200	Enhancers	Aorta	Aorta
29	chr2:21538400-21539400	Weak transcription	Pancreas	Pancrea
30	chr2:21538400-21539800	Weak transcription	Ovary	ovary
31	chr2:21538400-21540000	Weak transcription	Right Atrium	heart
32	chr2:21538600-21539400	Weak transcription	Spleen	Spleen
33	chr2:21538800-21539400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:21539200-21539600	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:21539400-21540200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:21539400-21540200	Enhancers	Brain Substantia Nigra	brain
37	chr2:21539400-21540200	Enhancers	Spleen	Spleen
38	chr2:21539400-21541000	Enhancers	Pancreas	Pancrea
39	chr2:21539600-21540200	Enhancers	Brain Anterior Caudate	brain
40	chr2:21539600-21540200	Enhancers	Brain Hippocampus Middle	brain
41	chr2:21539600-21540200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:21539600-21540400	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:21540000-21540200	Enhancers	Ovary	ovary
44	chr2:21540000-21540200	Enhancers	Right Atrium	heart
45	chr2:21540000-21540400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr2:21540000-21541800	Enhancers	Liver	Liver
47	chr2:21540200-21559000	Weak transcription	Aorta	Aorta
48	chr2:21541000-21542000	Weak transcription	Pancreas	Pancrea
49	chr2:21542000-21542200	Enhancers	Pancreas	Pancrea

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