Variant report

Variant	esv3395155
Chromosome Location	chr3:163013299-163085519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:178)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:178 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr3:163035507-163035684	GM12878	blood:	n/a	n/a
2	CBX3	chr3:163053313-163053625	K562	blood:	n/a	n/a
3	CBX3	chr3:163024140-163024571	HCT-116	colon:	n/a	n/a
4	CBX3	chr3:163053325-163053544	K562	blood:	n/a	n/a
5	CEBPB	chr3:163058995-163059440	A549	lung:	n/a	n/a
6	CEBPB	chr3:163016685-163016894	A549	lung:	n/a	n/a
7	CEBPB	chr3:163077613-163077856	HepG2	liver:	n/a	n/a
8	CTCF	chr3:163066760-163066910	NHDF-neo	bronchial:	n/a	n/a
9	CTCF	chr3:163046633-163046724	MCF-7	breast:	n/a	n/a
10	CTCF	chr3:163046600-163046750	HepG2	liver:	n/a	n/a
11	CTCF	chr3:163046637-163046688	MCF-7	breast:	n/a	n/a
12	CTCF	chr3:163085160-163085310	HCT-116	colon:	n/a	n/a
13	CTCF	chr3:163046635-163046749	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr3:163046540-163046690	BE2_C	brain:	n/a	n/a
15	CTCF	chr3:163053260-163053410	HCT-116	colon:	n/a	n/a
16	CTCF	chr3:163046583-163046779	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr3:163053100-163053250	BE2_C	brain:	n/a	n/a
18	CTCF	chr3:163046640-163046750	Gliobla	brain:	n/a	n/a
19	CTCF	chr3:163046660-163046810	HepG2	liver:	n/a	n/a
20	CTCF	chr3:163083755-163083769	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr3:163046580-163046730	HEK293	kidney:	n/a	n/a
22	CTCF	chr3:163053380-163053530	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr3:163046580-163046730	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr3:163046620-163046770	HL-60	blood:	n/a	n/a
25	CTCF	chr3:163018869-163018905	GM20000	blood:	n/a	n/a
26	CTCF	chr3:163053080-163053230	HEK293	kidney:	n/a	n/a
27	CTCF	chr3:163046720-163046870	GM06990	blood:	n/a	n/a
28	CTCF	chr3:163038459-163038507	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr3:163046580-163046730	GM12874	blood:	n/a	n/a
30	CTCF	chr3:163046656-163046714	A549	lung:	n/a	n/a
31	CTCF	chr3:163046437-163046760	K562	blood:	n/a	n/a
32	CTCF	chr3:163046531-163046844	GM12878	blood:	n/a	n/a
33	CTCF	chr3:163046700-163046850	BE2_C	brain:	n/a	n/a
34	CTCF	chr3:163046659-163046691	GM13977	blood:	n/a	n/a
35	CTCF	chr3:163046540-163046690	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr3:163046558-163046803	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr3:163046530-163046725	K562	blood:	n/a	n/a
38	CTCF	chr3:163046540-163046690	NB4	blood:	n/a	n/a
39	CTCF	chr3:163046628-163046721	MCF-7	breast:	n/a	n/a
40	CTCF	chr3:163046634-163046754	K562	blood:	n/a	n/a
41	CTCF	chr3:163083602-163083701	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr3:163046688-163046708	Medullo	brain:	n/a	n/a
43	CTCF	chr3:163046520-163046670	MCF-7	breast:	n/a	n/a
44	CTCF	chr3:163053210-163053233	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr3:163046520-163046670	BE2_C	brain:	n/a	n/a
46	CTCF	chr3:163046640-163046790	GM12875	blood:	n/a	n/a
47	CTCF	chr3:163046520-163046670	GM12866	blood:	n/a	n/a
48	CTCF	chr3:163046600-163046750	MCF-7	breast:	n/a	n/a
49	CTCF	chr3:163046640-163046705	MCF-7	breast:	n/a	n/a
50	CTCF	chr3:163046471-163046834	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:163021378-163021428	GM19239	blood:	n/a
2	chr3:163021378-163021428	HRE	kidney:	n/a
3	chr3:163021378-163021428	BJ	skin:	n/a
4	chr3:163021378-163021428	AG04450	lung:	fetal
5	chr3:163021378-163021428	HPAEpiC	pulmonary alveolar:	n/a
6	chr3:163021378-163021428	GM12891	blood:	n/a
7	chr3:163021378-163021428	LNCaP	prostate:	n/a
8	chr3:163021378-163021428	HAEpiC	amniotic membrane:	n/a
9	chr3:163021378-163021428	HL-60	blood:	n/a
10	chr3:163021378-163021428	HIPEpiC	eye:	n/a
11	chr3:163021378-163021428	GM12878	blood:	n/a
12	chr3:163021378-163021428	MCF-7	breast:	n/a
13	chr3:163021378-163021428	IMR90	lung:	fetal
14	chr3:163021378-163021428	Hepatocyte	liver:	n/a
15	chr3:163021378-163021428	AG09309	skin:	n/a
16	chr3:163021378-163021428	SK-N-SH_RA	brain:	n/a
17	chr3:163021378-163021428	MCF10A-Er-Src	breast:	n/a
18	chr3:163021378-163021428	Jurkat	blood:	n/a
19	chr3:163021378-163021428	CMK	blood:	n/a
20	chr3:163021378-163021428	HCT-116	colon:	n/a
21	chr3:163021378-163021428	T-47D	breast:	n/a
22	chr3:163021378-163021428	GM06990	blood:	n/a
23	chr3:163021378-163021428	AG09319	gingival:	n/a
24	chr3:163021378-163021428	Hela-S3	cervix:	n/a
25	chr3:163021378-163021428	PrEC	prostate:	n/a
26	chr3:163021378-163021428	HMEC	breast:	n/a
27	chr3:163021378-163021428	A549	lung:	n/a
28	chr3:163021378-163021428	SKMC	muscle:	n/a
29	chr3:163021378-163021428	BE2_C	brain:	n/a
30	chr3:163021378-163021428	HCPEpiC	choroid plexus:	n/a
31	chr3:163021378-163021428	AG04449	skin:	fetal
32	chr3:163021378-163021428	Caco-2	colon:	n/a
33	chr3:163021378-163021428	SK-N-SH	brain:	n/a
34	chr3:163021378-163021428	HNPCEpiC	eye:	n/a
35	chr3:163021378-163021428	HEEpiC	esophagus:	n/a
36	chr3:163021378-163021428	NT2-D1	testis:	n/a
37	chr3:163021378-163021428	ECC-1	luminal epithelium:	n/a
38	chr3:163021378-163021428	HCF	heart:	n/a
39	chr3:163021378-163021428	AoSMC	blood vessel:	n/a
40	chr3:163021378-163021428	NHDF-neo	bronchial:	n/a
41	chr3:163021378-163021428	HepG2	liver:	n/a
42	chr3:163021378-163021428	HRPEpiC	eye:	n/a
43	chr3:163021378-163021428	HCM	heart:	n/a
44	chr3:163021378-163021428	HUVEC	blood vessel:	n/a
45	chr3:163021378-163021428	SAEC	small airway:	n/a
46	chr3:163021378-163021428	HRCEpiC	kidney:	n/a
47	chr3:163021378-163021428	K562	blood:	n/a
48	chr3:163021378-163021428	HEK293	kidney:	embryo
49	chr3:163021378-163021428	ovcar-3	ovarian:	n/a
50	chr3:163021378-163021428	GM12892	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:163029844..163032021-chr3:163043055..163045557,2	K562	blood:
2	chr3:163029844..163032021-chr3:163043055..163045557,2	K562	blood:
3	chr3:163011480..163014323-chr3:163020834..163023758,2	MCF-7	breast:
4	chr3:163056333..163058966-chr3:163059531..163061180,3	K562	blood:
5	chr3:163056333..163058966-chr3:163059531..163061180,3	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SI-4	chr3:163021026-163021089	ENSG00000241369
2	lnc-SI-4	chr3:163021026-163021110	ENSG00000241369
3	lnc-SI-4	chr3:163079232-163079351	ENSG00000241369
4	lnc-SI-4	chr3:163021026-163021103	ENSG00000241369
5	lnc-OTOL1-10	chr3:163021583-163022065	NONHSAT093040
6	lnc-SI-4	chr3:163054933-163055024	ENSG00000241369
7	lnc-SI-4	chr3:163021026-163021105	ENSG00000241369
8	lnc-SI-4	chr3:163020984-163021076	ENSG00000241369
9	lnc-OTOL1-10	chr3:163031456-163031501	NONHSAT093040

No data

Variant related genes	Relation type
CT64	TF binding region
CT64	CpG island
ENSG00000241369	chromatin interactions

Extended variants
information (count: 253 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:253 , 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	rs367806624	chr3:163013300-163013301	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs376258379	chr3:163013356-163013357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs9820677	chr3:163013370-163013371	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs202130028	chr3:163013386-163013387	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142577136	chr3:163013399-163013400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs60370567	chr3:163013400-163013401	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs35672608	chr3:163013405-163013406	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574070582	chr3:163013462-163013463	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556991957	chr3:163013518-163013519	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570469801	chr3:163013525-163013526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs59029916	chr3:163013549-163013550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371556332	chr3:163013556-163013557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs552552544	chr3:163013596-163013597	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182387100	chr3:163013609-163013610	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs35623112	chr3:163013628-163013629	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552998085	chr3:163013639-163013640	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542159374	chr3:163013676-163013677	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs73017303	chr3:163013759-163013760	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1873639	chr3:163013776-163013777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186104662	chr3:163013802-163013803	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs76628443	chr3:163013817-163013818	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373760615	chr3:163013818-163013819	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533273686	chr3:163013822-163013823	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572570931	chr3:163013830-163013831	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs1873640	chr3:163013836-163013837	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73017304	chr3:163013869-163013870	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559678001	chr3:163013875-163013876	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560518233	chr3:163013884-163013885	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73017306	chr3:163013908-163013909	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs148339678	chr3:163013931-163013932	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568238929	chr3:163013932-163013933	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530699309	chr3:163013980-163013981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545944494	chr3:163013998-163013999	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs187069399	chr3:163014043-163014044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550512315	chr3:163014064-163014065	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs73017307	chr3:163014077-163014078	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539207709	chr3:163014091-163014092	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552544026	chr3:163014096-163014097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs116526049	chr3:163014147-163014148	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566167439	chr3:163014171-163014172	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs376119142	chr3:163014172-163014173	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535727890	chr3:163014197-163014198	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs555610679	chr3:163014240-163014241	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs367965098	chr3:163014257-163014258	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs575861412	chr3:163014290-163014291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs191685576	chr3:163021005-163021006	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs35932338	chr3:163021009-163021010	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs544000470	chr3:163021040-163021041	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs843065	chr3:163021072-163021073	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs532850849	chr3:163021089-163021090	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163065600-163066400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:163065600-163066800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:163079000-163079600	Active TSS	Hela-S3	cervix
4	chr3:163085200-163085800	Enhancers	Aorta	Aorta

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