Variant report

Variant	nsv1014508
Chromosome Location	chr2:211142855-211215068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:550)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:122 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:211153819-211154128	IMR90	lung:	n/a	n/a
2	CEBPB	chr2:211178085-211178214	A549	lung:	n/a	chr2:211178132-211178141 chr2:211178130-211178141
3	CEBPB	chr2:211177490-211177820	HepG2	liver:	n/a	chr2:211177640-211177649 chr2:211177640-211177651 chr2:211177638-211177649 chr2:211177638-211177651
4	CEBPB	chr2:211153891-211154063	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr2:211178099-211178158	Hela-S3	cervix:	n/a	chr2:211178132-211178141 chr2:211178130-211178141
6	CEBPB	chr2:211153833-211154120	HepG2	liver:	n/a	n/a
7	CEBPB	chr2:211177522-211177741	IMR90	lung:	n/a	chr2:211177640-211177649 chr2:211177640-211177651 chr2:211177638-211177649 chr2:211177638-211177651
8	CTCF	chr2:211201920-211202070	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr2:211202059-211202128	GM12878	blood:	n/a	n/a
10	CTCF	chr2:211202040-211202190	SAEC	small airway:	n/a	n/a
11	CTCF	chr2:211202040-211202190	HRPEpiC	eye:	n/a	n/a
12	CTCF	chr2:211204986-211205017	GM10248	blood:	n/a	n/a
13	CTCF	chr2:211201960-211202110	GM12873	blood:	n/a	n/a
14	CTCF	chr2:211202100-211202250	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr2:211190120-211190270	NB4	blood:	n/a	n/a
16	CTCF	chr2:211201960-211202110	SAEC	small airway:	n/a	n/a
17	CTCF	chr2:211202033-211202168	MCF-7	breast:	n/a	n/a
18	CTCF	chr2:211202020-211202170	MCF-7	breast:	n/a	n/a
19	CTCF	chr2:211202020-211202170	NHEK	skin:	n/a	n/a
20	CTCF	chr2:211169347-211169358	LNCaP	prostate:	n/a	n/a
21	CTCF	chr2:211202020-211202170	HMEC	breast:	n/a	n/a
22	CTCF	chr2:211202540-211202690	GM12867	blood:	n/a	n/a
23	CTCF	chr2:211202040-211202190	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr2:211202049-211202103	LNCaP	prostate:	n/a	n/a
25	CTCF	chr2:211202000-211202270	NB4	blood:	n/a	n/a
26	CTCF	chr2:211202056-211202152	MCF-7	breast:	n/a	n/a
27	CTCF	chr2:211202040-211202190	GM12866	blood:	n/a	n/a
28	CTCF	chr2:211202040-211202190	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr2:211201920-211202070	HepG2	liver:	n/a	n/a
30	CTCF	chr2:211202020-211202170	GM12875	blood:	n/a	n/a
31	CTCF	chr2:211202100-211202250	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr2:211202000-211202150	HEK293	kidney:	n/a	n/a
33	CTCF	chr2:211202060-211202210	HepG2	liver:	n/a	n/a
34	CTCF	chr2:211202040-211202190	GM12872	blood:	n/a	n/a
35	CTCF	chr2:211201916-211202158	HepG2	liver:	n/a	n/a
36	CTCF	chr2:211202029-211202116	HepG2	liver:	n/a	n/a
37	CTCF	chr2:211202019-211202167	LNCaP	prostate:	n/a	n/a
38	CTCF	chr2:211201980-211202130	GM12871	blood:	n/a	n/a
39	CTCF	chr2:211202078-211202158	Gliobla	brain:	n/a	n/a
40	CTCF	chr2:211202060-211202210	GM12874	blood:	n/a	n/a
41	CTCF	chr2:211202000-211202150	MCF-7	breast:	n/a	n/a
42	CTCF	chr2:211201920-211202070	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr2:211202040-211202190	NHEK	skin:	n/a	n/a
44	CTCF	chr2:211202040-211202190	HMEC	breast:	n/a	n/a
45	CTCF	chr2:211201980-211202130	BE2_C	brain:	n/a	n/a
46	CTCF	chr2:211201960-211202110	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr2:211202200-211202350	SAEC	small airway:	n/a	n/a
48	CTCF	chr2:211201980-211202130	GM12874	blood:	n/a	n/a
49	CTCF	chr2:211202160-211202310	HepG2	liver:	n/a	n/a
50	CTCF	chr2:211202020-211202170	HEEpiC	esophagus:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:211179707-211179757	HPAEpiC	pulmonary alveolar:	n/a
2	chr2:211179707-211179757	HPAEpiC	pulmonary alveolar:	n/a
3	chr2:211179707-211179757	ovcar-3	ovarian:	n/a
4	chr2:211180386-211180436	HMEC	breast:	n/a
5	chr2:211179707-211179757	ProgFib	skin:	n/a
6	chr2:211179959-211180009	BE2_C	brain:	n/a
7	chr2:211168547-211168597	HPAEpiC	pulmonary alveolar:	n/a
8	chr2:211180386-211180436	HUVEC	blood vessel:	n/a
9	chr2:211169638-211169688	Hepatocyte	liver:	n/a
10	chr2:211179902-211179952	PrEC	prostate:	n/a
11	chr2:211180386-211180436	SAEC	small airway:	n/a
12	chr2:211169638-211169688	HCT-116	colon:	n/a
13	chr2:211168547-211168597	NH-A	brain:	n/a
14	chr2:211179560-211179610	GM12891	blood:	n/a
15	chr2:211169638-211169688	SKMC	muscle:	n/a
16	chr2:211179959-211180009	PrEC	prostate:	n/a
17	chr2:211168547-211168597	LNCaP	prostate:	n/a
18	chr2:211179707-211179757	AG04449	skin:	fetal
19	chr2:211179707-211179757	U87	brain:	n/a
20	chr2:211168547-211168597	ovcar-3	ovarian:	n/a
21	chr2:211179902-211179952	HL-60	blood:	n/a
22	chr2:211179902-211179952	SK-N-SH	brain:	n/a
23	chr2:211180001-211180051	NT2-D1	testis:	n/a
24	chr2:211180386-211180436	ProgFib	skin:	n/a
25	chr2:211155085-211155135	BJ	skin:	n/a
26	chr2:211179707-211179757	NHBE	bronchial:	n/a
27	chr2:211179560-211179610	SK-N-SH	brain:	n/a
28	chr2:211179707-211179757	HCPEpiC	choroid plexus:	n/a
29	chr2:211180386-211180436	HIPEpiC	eye:	n/a
30	chr2:211179707-211179757	HCF	heart:	n/a
31	chr2:211179959-211180009	SK-N-MC	brain:	n/a
32	chr2:211168547-211168597	RPTEC	kidney:	n/a
33	chr2:211179707-211179757	GM06990	blood:	n/a
34	chr2:211179902-211179952	AG09319	gingival:	n/a
35	chr2:211155085-211155135	NB4	blood:	n/a
36	chr2:211179902-211179952	NHDF-neo	bronchial:	n/a
37	chr2:211179959-211180009	HRCEpiC	kidney:	n/a
38	chr2:211179959-211180009	AG09319	gingival:	n/a
39	chr2:211155085-211155135	CMK	blood:	n/a
40	chr2:211168547-211168597	AG04449	skin:	fetal
41	chr2:211179902-211179952	ovcar-3	ovarian:	n/a
42	chr2:211179959-211180009	GM06990	blood:	n/a
43	chr2:211168547-211168597	HRCEpiC	kidney:	n/a
44	chr2:211179959-211180009	HPAEpiC	pulmonary alveolar:	n/a
45	chr2:211180386-211180436	SK-N-MC	brain:	n/a
46	chr2:211179902-211179952	K562	blood:	n/a
47	chr2:211179959-211180009	MCF10A-Er-Src	breast:	n/a
48	chr2:211179707-211179757	AoSMC	blood vessel:	n/a
49	chr2:211169638-211169688	NH-A	brain:	n/a
50	chr2:211180001-211180051	AoSMC	blood vessel:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:211173735..211175248-chr2:211176739..211178731,2	MCF-7	breast:
2	chr2:211173735..211175248-chr2:211176739..211178731,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPS1-1	chr2:211189490-211189558	ENSG00000234281.1
2	lnc-CPS1-1	chr2:211189483-211189558	ENSG00000234281.1
3	lnc-CPS1-2	chr2:211190540-211192675	ucscGeneNc_uc002vef_1

No data

Variant related genes	Relation type
MYL1	TF binding region
ENSG00000234281	TF binding region
MYL1	CpG island
ENSG00000234281	CpG island

Extended variants
information (count: 1681 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1681 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189747059	chr2:211147421-211147422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576442604	chr2:211147432-211147433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372691353	chr2:211147435-211147436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6721507	chr2:211147437-211147438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs34151429	chr2:211147444-211147445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555511847	chr2:211147455-211147456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572150521	chr2:211147483-211147484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116048140	chr2:211147502-211147503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560254321	chr2:211147612-211147613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146945483	chr2:211147626-211147627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141996022	chr2:211147647-211147648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545820196	chr2:211147680-211147681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78253439	chr2:211147732-211147733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117158424	chr2:211147747-211147748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548622686	chr2:211147750-211147751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562260783	chr2:211147823-211147824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6753282	chr2:211147859-211147860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs143594284	chr2:211147917-211147918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572661935	chr2:211147936-211147937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146110961	chr2:211148024-211148025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570605466	chr2:211148077-211148078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535744757	chr2:211148110-211148111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181113920	chr2:211148151-211148152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569692837	chr2:211148170-211148171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370634776	chr2:211148191-211148192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535696972	chr2:211148237-211148238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185313356	chr2:211148243-211148244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188187240	chr2:211148288-211148289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534561902	chr2:211148303-211148304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553828736	chr2:211148315-211148316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138674163	chr2:211148322-211148323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545908086	chr2:211148373-211148374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148874057	chr2:211148385-211148386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576362259	chr2:211148397-211148398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542466024	chr2:211148412-211148413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116593185	chr2:211148427-211148428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114325953	chr2:211148532-211148533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143555594	chr2:211148579-211148580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564687364	chr2:211148580-211148581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149319701	chr2:211148603-211148604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533033556	chr2:211148613-211148614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148312446	chr2:211148627-211148628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13015487	chr2:211148632-211148633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs114930990	chr2:211148633-211148634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549256196	chr2:211148638-211148639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528874770	chr2:211148662-211148663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142061884	chr2:211148683-211148684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557494559	chr2:211148701-211148702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115701159	chr2:211148704-211148705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139512181	chr2:211148735-211148736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211147400-211152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:211147600-211150000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:211150000-211150200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:211150200-211150800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:211150400-211150600	Enhancers	Fetal Muscle Leg	muscle
6	chr2:211150600-211152000	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:211151800-211152200	Enhancers	HSMMtube	muscle
8	chr2:211152000-211152600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:211152000-211152600	Enhancers	Fetal Muscle Leg	muscle
10	chr2:211152000-211152600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:211152000-211152800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:211152000-211153200	Enhancers	HSMM	muscle
13	chr2:211152200-211152600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:211152200-211152800	Flanking Active TSS	HSMMtube	muscle
15	chr2:211152600-211156600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:211152600-211160000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:211152600-211163000	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:211152800-211156600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:211152800-211166400	Weak transcription	HSMMtube	muscle
20	chr2:211156600-211156800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:211156600-211163000	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:211156800-211157600	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:211157600-211158000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:211158000-211158400	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:211158400-211159200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:211159200-211160200	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:211160000-211160400	Enhancers	Fetal Muscle Trunk	muscle
28	chr2:211160200-211161600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:211160400-211164600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:211161200-211161400	Enhancers	Psoas Muscle	Psoas
31	chr2:211161400-211164400	Weak transcription	Psoas Muscle	Psoas
32	chr2:211161600-211163000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:211162800-211163200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr2:211163000-211163200	Active TSS	Fetal Muscle Leg	muscle
35	chr2:211163000-211163200	Enhancers	Pancreas	Pancrea
36	chr2:211163000-211163400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
37	chr2:211163000-211163400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
38	chr2:211163200-211163400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
39	chr2:211163400-211167400	Active TSS	Fetal Muscle Leg	muscle
40	chr2:211163400-211168600	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr2:211163400-211168800	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr2:211164400-211166400	Active TSS	Psoas Muscle	Psoas
43	chr2:211164600-211168800	Active TSS	Fetal Muscle Trunk	muscle
44	chr2:211166400-211167000	Active TSS	HSMMtube	muscle
45	chr2:211166400-211174000	Weak transcription	Psoas Muscle	Psoas
46	chr2:211166600-211168600	Enhancers	HSMM	muscle
47	chr2:211167000-211167600	Flanking Active TSS	HSMMtube	muscle
48	chr2:211167000-211168000	Enhancers	NH-A	brain
49	chr2:211167400-211167600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
50	chr2:211167600-211168400	Active TSS	HSMMtube	muscle

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