Variant report

Variant	nsv872731
Chromosome Location	chr1:189653244-189741561
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:367)
CpG islands
(count:62)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:189655218-189655237	K562	blood:	n/a	n/a
2	ATF1	chr1:189692607-189692756	K562	blood:	n/a	n/a
3	BACH1	chr1:189660033-189660067	K562	blood:	n/a	n/a
4	CEBPB	chr1:189731420-189731730	HepG2	liver:	n/a	chr1:189731575-189731586
5	CEBPB	chr1:189738671-189738934	HepG2	liver:	n/a	n/a
6	CEBPB	chr1:189688868-189689176	MCF-7	breast:	n/a	n/a
7	CEBPB	chr1:189738620-189739003	IMR90	lung:	n/a	n/a
8	CEBPB	chr1:189672613-189673256	IMR90	lung:	n/a	n/a
9	CEBPB	chr1:189739895-189740150	A549	lung:	n/a	n/a
10	CEBPB	chr1:189738746-189738942	A549	lung:	n/a	n/a
11	CEBPB	chr1:189675218-189675345	A549	lung:	n/a	chr1:189675255-189675266
12	CEBPB	chr1:189688106-189688428	IMR90	lung:	n/a	chr1:189688274-189688285 chr1:189688275-189688286
13	CEBPB	chr1:189688196-189688361	H1-hESC	embryonic stem cell:	n/a	chr1:189688274-189688285 chr1:189688275-189688286
14	CEBPB	chr1:189688107-189688436	HepG2	liver:	n/a	chr1:189688274-189688285 chr1:189688275-189688286
15	CEBPB	chr1:189718442-189718647	HepG2	liver:	n/a	chr1:189718486-189718497
16	CEBPB	chr1:189689001-189689131	IMR90	lung:	n/a	n/a
17	CEBPB	chr1:189731505-189731602	K562	blood:	n/a	chr1:189731575-189731586
18	CEBPB	chr1:189688098-189688417	A549	lung:	n/a	chr1:189688274-189688285 chr1:189688275-189688286
19	CEBPB	chr1:189675215-189675438	HepG2	liver:	n/a	chr1:189675255-189675266
20	CEBPB	chr1:189718405-189718652	A549	lung:	n/a	chr1:189718486-189718497
21	CEBPB	chr1:189738790-189738826	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr1:189703140-189703285	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr1:189662460-189662610	HPAF	blood vessel:	n/a	chr1:189662475-189662488 chr1:189662473-189662491
24	CTCF	chr1:189677880-189678030	BE2_C	brain:	n/a	n/a
25	CTCF	chr1:189665758-189665888	MCF-7	breast:	n/a	n/a
26	CTCF	chr1:189677920-189678070	HPF	lung:	n/a	n/a
27	CTCF	chr1:189677880-189678030	HMEC	breast:	n/a	n/a
28	CTCF	chr1:189677780-189677930	GM12868	blood:	n/a	n/a
29	CTCF	chr1:189677922-189678028	GM12878	blood:	n/a	n/a
30	CTCF	chr1:189677928-189678027	NHEK	skin:	n/a	n/a
31	CTCF	chr1:189677820-189677970	GM12867	blood:	n/a	n/a
32	CTCF	chr1:189677793-189678134	A549	lung:	n/a	n/a
33	CTCF	chr1:189677820-189677970	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr1:189658769-189658845	A549	lung:	n/a	n/a
35	CTCF	chr1:189658739-189658837	MCF-7	breast:	n/a	n/a
36	CTCF	chr1:189658731-189658877	MCF-7	breast:	n/a	n/a
37	CTCF	chr1:189677880-189678030	A549	lung:	n/a	n/a
38	CTCF	chr1:189677900-189678050	HEK293	kidney:	n/a	n/a
39	CTCF	chr1:189677900-189678050	GM12872	blood:	n/a	n/a
40	CTCF	chr1:189677911-189678052	GM12891	blood:	n/a	n/a
41	CTCF	chr1:189662451-189662509	HepG2	liver:	n/a	chr1:189662475-189662488 chr1:189662473-189662491
42	CTCF	chr1:189662380-189662530	BE2_C	brain:	n/a	chr1:189662475-189662488 chr1:189662473-189662491
43	CTCF	chr1:189677918-189678033	GM12892	blood:	n/a	n/a
44	CTCF	chr1:189677860-189678010	HepG2	liver:	n/a	n/a
45	CTCF	chr1:189677900-189678050	Caco-2	colon:	n/a	n/a
46	CTCF	chr1:189677900-189678050	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr1:189677805-189678090	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr1:189677920-189678070	GM12864	blood:	n/a	n/a
49	CTCF	chr1:189677880-189678030	MCF-7	breast:	n/a	n/a
50	CTCF	chr1:189662331-189662632	MCF-7	breast:	n/a	chr1:189662475-189662488 chr1:189662473-189662491

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:189722103-189722153	U87	brain:	n/a
2	chr1:189722103-189722153	U87	brain:	n/a
3	chr1:189722103-189722153	GM19239	blood:	n/a
4	chr1:189722103-189722153	AG10803	skin:	n/a
5	chr1:189722103-189722153	HNPCEpiC	eye:	n/a
6	chr1:189722103-189722153	HCF	heart:	n/a
7	chr1:189722103-189722153	GM06990	blood:	n/a
8	chr1:189722103-189722153	HEEpiC	esophagus:	n/a
9	chr1:189722103-189722153	CMK	blood:	n/a
10	chr1:189722103-189722153	NHDF-neo	bronchial:	n/a
11	chr1:189722103-189722153	HRPEpiC	eye:	n/a
12	chr1:189722103-189722153	AG09309	skin:	n/a
13	chr1:189722103-189722153	MCF10A-Er-Src	breast:	n/a
14	chr1:189722103-189722153	AoSMC	blood vessel:	n/a
15	chr1:189722103-189722153	Hela-S3	cervix:	n/a
16	chr1:189722103-189722153	AG04449	skin:	fetal
17	chr1:189722103-189722153	PFSK-1	brain:	n/a
18	chr1:189722103-189722153	HCT-116	colon:	n/a
19	chr1:189722103-189722153	SK-N-SH	brain:	n/a
20	chr1:189722103-189722153	GM12891	blood:	n/a
21	chr1:189722103-189722153	HL-60	blood:	n/a
22	chr1:189722103-189722153	LNCaP	prostate:	n/a
23	chr1:189722103-189722153	NHBE	bronchial:	n/a
24	chr1:189722103-189722153	NB4	blood:	n/a
25	chr1:189722103-189722153	BJ	skin:	n/a
26	chr1:189722103-189722153	HIPEpiC	eye:	n/a
27	chr1:189722103-189722153	NH-A	brain:	n/a
28	chr1:189722103-189722153	Hepatocyte	liver:	n/a
29	chr1:189722103-189722153	HCM	heart:	n/a
30	chr1:189722103-189722153	AG04450	lung:	fetal
31	chr1:189722103-189722153	HRCEpiC	kidney:	n/a
32	chr1:189722103-189722153	PrEC	prostate:	n/a
33	chr1:189722103-189722153	GM12878	blood:	n/a
34	chr1:189722103-189722153	HCPEpiC	choroid plexus:	n/a
35	chr1:189722103-189722153	BE2_C	brain:	n/a
36	chr1:189722103-189722153	ovcar-3	ovarian:	n/a
37	chr1:189722103-189722153	ECC-1	luminal epithelium:	n/a
38	chr1:189722103-189722153	HMEC	breast:	n/a
39	chr1:189722103-189722153	NT2-D1	testis:	n/a
40	chr1:189722103-189722153	GM12892	blood:	n/a
41	chr1:189722103-189722153	A549	lung:	n/a
42	chr1:189722103-189722153	SKMC	muscle:	n/a
43	chr1:189722103-189722153	HRE	kidney:	n/a
44	chr1:189722103-189722153	ProgFib	skin:	n/a
45	chr1:189722103-189722153	HPAEpiC	pulmonary alveolar:	n/a
46	chr1:189722103-189722153	AG09319	gingival:	n/a
47	chr1:189722103-189722153	HUVEC	blood vessel:	n/a
48	chr1:189722103-189722153	HepG2	liver:	n/a
49	chr1:189722103-189722153	IMR90	lung:	fetal
50	chr1:189722103-189722153	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:189705345..189707314-chr1:189708117..189710746,3	MCF-7	breast:
2	chr1:189705345..189707314-chr1:189708117..189710746,3	MCF-7	breast:
3	chr1:189705156..189706947-chr1:189708552..189710958,2	K562	blood:
4	chr1:189398509..189399144-chr1:189660311..189661261,2	MCF-7	breast:
5	chr1:189740038..189741669-chr1:189745873..189748337,2	K562	blood:
6	chr1:189705156..189706947-chr1:189708552..189710958,2	K562	blood:
7	chr1:189672702..189674835-chr1:189679900..189682761,2	MCF-7	breast:
8	chr1:189398408..189399387-chr1:189661985..189662829,2	MCF-7	breast:
9	chr1:189672702..189674835-chr1:189679900..189682761,2	MCF-7	breast:
10	chr1:189677420..189678491-chr1:190289916..190290952,3	MCF-7	breast:
11	chr1:189625524..189628069-chr1:189701890..189703665,2	MCF-7	breast:
12	chr1:189709848..189710556-chr1:189743646..189744501,3	MCF-7	breast:
13	chr1:189677502..189678569-chr1:190053452..190054228,3	MCF-7	breast:
14	chr1:189589226..189590045-chr1:189662088..189662866,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232212	TF binding region
ENSG00000232212	CpG island

Extended variants
information (count: 266 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565363707	chr1:189665451-189665452	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs71637210	chr1:189665493-189665494	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs556397237	chr1:189665518-189665519	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs544343	chr1:189665522-189665523	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537646540	chr1:189665528-189665529	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs185679508	chr1:189665553-189665554	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs574832754	chr1:189665580-189665581	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs545162	chr1:189665593-189665594	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs116529774	chr1:189665611-189665612	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147145933	chr1:189665636-189665637	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs191912164	chr1:189665669-189665670	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs140258929	chr1:189665670-189665671	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs552712408	chr1:189665671-189665672	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs567919915	chr1:189665672-189665673	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs374462923	chr1:189665675-189665676	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs201882550	chr1:189665678-189665679	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs376459593	chr1:189665680-189665681	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs561940220	chr1:189665681-189665682	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs528003843	chr1:189665685-189665686	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs36063163	chr1:189665691-189665692	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs547667117	chr1:189665696-189665697	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs374028968	chr1:189665740-189665741	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs571090103	chr1:189665749-189665750	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533192910	chr1:189665754-189665755	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs115026705	chr1:189665783-189665784	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs144313629	chr1:189665784-189665785	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs114075430	chr1:189665826-189665827	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs151156612	chr1:189665847-189665848	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs568245432	chr1:189665870-189665871	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs533940901	chr1:189665880-189665881	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs116358703	chr1:189665886-189665887	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs61819063	chr1:189665918-189665919	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530147485	chr1:189665954-189665955	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs140574817	chr1:189666023-189666024	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs556116394	chr1:189666043-189666044	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs535143174	chr1:189666082-189666083	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs575129925	chr1:189666086-189666087	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs189246280	chr1:189666087-189666088	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs527892728	chr1:189666093-189666094	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs192235017	chr1:189666116-189666117	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs61819064	chr1:189666143-189666144	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs182421759	chr1:189666212-189666213	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs533634458	chr1:189666213-189666214	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs116130693	chr1:189666238-189666239	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs563679487	chr1:189666241-189666242	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529444397	chr1:189666251-189666252	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs115089702	chr1:189666255-189666256	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs573544214	chr1:189666329-189666330	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs540949297	chr1:189666341-189666342	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs112548603	chr1:189666352-189666353	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189665400-189666400	Active TSS	Placenta	Placenta
2	chr1:189666400-189666600	Flanking Active TSS	Placenta	Placenta
3	chr1:189675200-189676200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:189678000-189678200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:189678000-189678400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:189688000-189688600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:189720600-189720800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:189720800-189721600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:189721600-189722400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:189721600-189722600	Enhancers	Fetal Heart	heart
11	chr1:189721600-189723000	Enhancers	Fetal Lung	lung
12	chr1:189721800-189722000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:189722000-189722600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:189722000-189722600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:189722400-189723000	Enhancers	Hela-S3	cervix
16	chr1:189722600-189722800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:189733200-189734200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:189733400-189734000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:189733400-189734000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:189733400-189734400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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