Variant report

Variant	nsv822469
Chromosome Location	chr4:8165349-8174115
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	ATF2	chr4:8173906-8174284	GM12878	blood:	n/a	n/a
2	BCL11A	chr4:8173954-8174336	GM12878	blood:	n/a	n/a
3	BCL3	chr4:8174044-8174444	GM12878	blood:	n/a	n/a
4	BCL3	chr4:8173697-8173995	GM12878	blood:	n/a	n/a
5	BCLAF1	chr4:8173866-8174279	GM12878	blood:	n/a	n/a
6	BHLHE40	chr4:8173989-8174329	GM12878	blood:	n/a	n/a
7	CBX3	chr4:8170006-8170402	K562	blood:	n/a	n/a
8	CBX3	chr4:8169988-8170331	K562	blood:	n/a	n/a
9	CEBPB	chr4:8171974-8172194	HepG2	liver:	n/a	chr4:8172120-8172131
10	CEBPB	chr4:8170818-8170902	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr4:8173883-8174384	GM12878	blood:	n/a	n/a
12	CTCF	chr4:8170160-8170310	HFF	foreskin:	n/a	n/a
13	CTCF	chr4:8170060-8170210	HEK293	kidney:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
14	CTCF	chr4:8170100-8170250	Hela-S3	cervix:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
15	CTCF	chr4:8170060-8170210	AG10803	skin:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
16	CTCF	chr4:8170100-8170250	Caco-2	colon:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
17	CTCF	chr4:8170100-8170250	AG04450	lung:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
18	CTCF	chr4:8170080-8170230	HCPEpiC	choroid plexus:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
19	CTCF	chr4:8170160-8170310	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr4:8170060-8170210	GM12865	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
21	CTCF	chr4:8167260-8167410	BE2_C	brain:	n/a	n/a
22	CTCF	chr4:8170080-8170230	GM12874	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
23	CTCF	chr4:8170060-8170210	HAc	cerebellar:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
24	CTCF	chr4:8170177-8170232	MCF-7	breast:	n/a	n/a
25	CTCF	chr4:8170060-8170210	AG04449	skin:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
26	CTCF	chr4:8170140-8170290	HCFaa	heart:	n/a	chr4:8170142-8170160
27	CTCF	chr4:8170040-8170190	GM12869	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
28	CTCF	chr4:8170040-8170190	MCF-7	breast:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
29	CTCF	chr4:8170100-8170250	GM12873	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
30	CTCF	chr4:8170080-8170230	NB4	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
31	CTCF	chr4:8170060-8170210	BE2_C	brain:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
32	CTCF	chr4:8170140-8170290	GM12875	blood:	n/a	chr4:8170142-8170160
33	CTCF	chr4:8170038-8170254	HUVEC	blood vessel:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
34	CTCF	chr4:8170062-8170201	HepG2	liver:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
35	CTCF	chr4:8170028-8170318	IMR90	lung:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
36	CTCF	chr4:8170180-8170330	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr4:8170000-8170150	GM12871	blood:	n/a	n/a
38	CTCF	chr4:8170189-8170248	Fibrobl	skin:	n/a	n/a
39	CTCF	chr4:8170192-8170249	GM12892	blood:	n/a	n/a
40	CTCF	chr4:8170100-8170250	HEK293	kidney:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
41	CTCF	chr4:8170120-8170270	GM12866	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
42	CTCF	chr4:8170120-8170270	HRE	kidney:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
43	CTCF	chr4:8170180-8170330	HMEC	breast:	n/a	n/a
44	CTCF	chr4:8170020-8170170	HA-sp	spinal cord:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
45	CTCF	chr4:8170055-8170289	GM12878	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
46	CTCF	chr4:8170020-8170170	GM12868	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
47	CTCF	chr4:8167273-8167315	GM19238	blood:	n/a	n/a
48	CTCF	chr4:8170060-8170210	HVMF	connective:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
49	CTCF	chr4:8170060-8170210	HepG2	liver:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
50	CTCF	chr4:8170140-8170290	HRPEpiC	eye:	n/a	chr4:8170142-8170160

No.	Distal block	Cell Line	Cell type
1	chr4:8169433..8172146-chr4:8180743..8183455,2	MCF-7	breast:
2	chr4:8157586..8162505-chr4:8168243..8171726,5	MCF-7	breast:
3	chr4:8167178..8170899-chr4:8199660..8202553,4	MCF-7	breast:
4	chr4:8159576..8163492-chr4:8163504..8167545,5	MCF-7	breast:
5	chr4:8160114..8162361-chr4:8163405..8165822,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABLIM2-1	chr4:8165883-8166042	XLOC_003874

Variant related genes	Relation type
ABLIM2	TF binding region
GMPSP1	TF binding region
ENSG00000163995	chromatin interactions
ENSG00000125089	chromatin interactions

Extended variants
information (count: 385 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370702463	chr4:8165389-8165390	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs572886070	chr4:8165402-8165403	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34301798	chr4:8165531-8165532	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183121786	chr4:8165591-8165592	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140177753	chr4:8165602-8165603	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186559069	chr4:8165630-8165631	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs551690574	chr4:8165648-8165649	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142953331	chr4:8165649-8165650	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191337069	chr4:8165650-8165651	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184551594	chr4:8165660-8165661	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545419120	chr4:8165662-8165663	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560323579	chr4:8165692-8165693	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs527742064	chr4:8165713-8165714	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549210503	chr4:8165754-8165755	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568742797	chr4:8165772-8165773	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529068788	chr4:8165773-8165774	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs370602930	chr4:8165778-8165779	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373393323	chr4:8165784-8165785	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550394985	chr4:8165800-8165801	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs1109831	chr4:8165888-8165889	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs76293486	chr4:8165889-8165890	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs150692937	chr4:8165893-8165894	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs193146135	chr4:8165943-8165944	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs533858241	chr4:8165970-8165971	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs543420112	chr4:8165997-8165998	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs555188475	chr4:8166002-8166003	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs567391412	chr4:8166018-8166019	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs185235573	chr4:8166021-8166022	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs190118628	chr4:8166028-8166029	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs371202697	chr4:8166052-8166053	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545722089	chr4:8166090-8166091	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs1109830	chr4:8166161-8166162	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374450413	chr4:8166169-8166170	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs112198880	chr4:8166186-8166187	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149830074	chr4:8166230-8166231	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368769815	chr4:8166240-8166241	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs531718573	chr4:8166281-8166282	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551063372	chr4:8166306-8166307	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs181203988	chr4:8166321-8166322	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566438999	chr4:8166333-8166334	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562353180	chr4:8166378-8166379	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs146691177	chr4:8166382-8166383	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549287136	chr4:8166390-8166391	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186409345	chr4:8166395-8166396	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566430560	chr4:8166413-8166414	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs28616063	chr4:8166460-8166461	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs556333096	chr4:8166463-8166464	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548993625	chr4:8166464-8166465	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs140305027	chr4:8166481-8166482	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373803222	chr4:8166486-8166487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8161600-8166600	Enhancers	Primary B cells from cord blood	blood
2	chr4:8161600-8166600	Enhancers	Primary B cells from peripheral blood	blood
3	chr4:8161800-8167000	Weak transcription	Right Atrium	heart
4	chr4:8161800-8167000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr4:8162000-8165400	Weak transcription	Fetal Heart	heart
6	chr4:8162200-8167200	Weak transcription	Right Ventricle	heart
7	chr4:8162400-8167000	Weak transcription	Left Ventricle	heart
8	chr4:8162400-8168200	Weak transcription	Gastric	stomach
9	chr4:8162400-8168200	Weak transcription	Spleen	Spleen
10	chr4:8163600-8165400	Weak transcription	Esophagus	oesophagus
11	chr4:8163600-8165400	Enhancers	Psoas Muscle	Psoas
12	chr4:8163800-8165600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:8164000-8167200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:8164400-8165600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:8164400-8165800	Enhancers	GM12878-XiMat	blood
16	chr4:8164400-8165800	Enhancers	NHEK	skin
17	chr4:8164600-8165400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr4:8164800-8166200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr4:8164800-8167200	Enhancers	Fetal Thymus	thymus
20	chr4:8165200-8166800	Enhancers	Pancreas	Pancrea
21	chr4:8165200-8167600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr4:8165400-8165600	Enhancers	Esophagus	oesophagus
23	chr4:8165400-8165800	Flanking Active TSS	Psoas Muscle	Psoas
24	chr4:8165400-8166400	Enhancers	Fetal Muscle Leg	muscle
25	chr4:8165400-8167600	Enhancers	Fetal Heart	heart
26	chr4:8165600-8165800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:8165600-8166000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:8165600-8166000	Enhancers	HSMMtube	muscle
29	chr4:8165600-8167000	Weak transcription	Esophagus	oesophagus
30	chr4:8165800-8166400	Flanking Active TSS	NHEK	skin
31	chr4:8165800-8167200	Enhancers	Psoas Muscle	Psoas
32	chr4:8166000-8167000	Weak transcription	HSMMtube	muscle
33	chr4:8166000-8167600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:8166400-8166800	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr4:8166400-8167400	Enhancers	NHEK	skin
36	chr4:8166400-8169800	Weak transcription	Liver	Liver
37	chr4:8166800-8168000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr4:8166800-8168200	Weak transcription	Pancreas	Pancrea
39	chr4:8166800-8168800	Enhancers	Fetal Muscle Leg	muscle
40	chr4:8167000-8167400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr4:8167000-8167400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr4:8167000-8167400	Enhancers	HSMM	muscle
43	chr4:8167000-8167600	Enhancers	Left Ventricle	heart
44	chr4:8167000-8167600	Enhancers	Right Atrium	heart
45	chr4:8167000-8168000	Enhancers	HSMMtube	muscle
46	chr4:8167000-8170600	Enhancers	Esophagus	oesophagus
47	chr4:8167200-8167400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:8167200-8167400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:8167200-8167400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:8167200-8167400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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