Variant report

Variant	esv1839660
Chromosome Location	chr3:109591203-109678542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:384)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:384 , 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	BCL3	chr3:109645877-109646527	A549	lung:	n/a	n/a
2	BRCA1	chr3:109645781-109646410	Hela-S3	cervix:	n/a	n/a
3	CBX3	chr3:109645772-109646547	HCT-116	colon:	n/a	n/a
4	CBX3	chr3:109609851-109610221	HCT-116	colon:	n/a	n/a
5	CBX3	chr3:109645702-109646599	HCT-116	colon:	n/a	n/a
6	CEBPB	chr3:109645773-109646686	HCT-116	colon:	n/a	n/a
7	CEBPB	chr3:109645968-109646417	ECC-1	luminal epithelium:	n/a	n/a
8	CEBPB	chr3:109645841-109646611	A549	lung:	n/a	n/a
9	CEBPB	chr3:109650997-109651438	IMR90	lung:	n/a	n/a
10	CEBPB	chr3:109645998-109646461	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr3:109658874-109659211	A549	lung:	n/a	chr3:109659035-109659046
12	CEBPB	chr3:109658871-109659190	HepG2	liver:	n/a	chr3:109659035-109659046
13	CEBPB	chr3:109651046-109651296	A549	lung:	n/a	n/a
14	CEBPB	chr3:109619469-109620040	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr3:109658912-109659180	K562	blood:	n/a	chr3:109659035-109659046
16	CEBPB	chr3:109645994-109646413	A549	lung:	n/a	n/a
17	CEBPB	chr3:109645987-109646493	A549	lung:	n/a	n/a
18	CEBPB	chr3:109658867-109659228	IMR90	lung:	n/a	chr3:109659035-109659046
19	CEBPB	chr3:109646013-109646487	IMR90	lung:	n/a	n/a
20	CEBPB	chr3:109645783-109646595	HCT-116	colon:	n/a	n/a
21	CEBPB	chr3:109641108-109641558	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr3:109671813-109672133	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr3:109658776-109659238	A549	lung:	n/a	chr3:109659035-109659046
24	CEBPB	chr3:109658937-109659071	H1-hESC	embryonic stem cell:	n/a	chr3:109659035-109659046
25	CTCF	chr3:109602420-109602475	MCF-7	breast:	n/a	n/a
26	CTCF	chr3:109622040-109622190	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr3:109602406-109602479	Fibrobl	skin:	n/a	n/a
28	CTCF	chr3:109621980-109622130	HRE	kidney:	n/a	n/a
29	CTCF	chr3:109622120-109622270	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr3:109607580-109607730	GM12868	blood:	n/a	n/a
31	CTCF	chr3:109594080-109594230	HMEC	breast:	n/a	n/a
32	CTCF	chr3:109602421-109602477	MCF-7	breast:	n/a	n/a
33	CTCF	chr3:109622100-109622250	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr3:109622020-109622170	HepG2	liver:	n/a	n/a
35	CTCF	chr3:109622080-109622230	HMEC	breast:	n/a	n/a
36	CTCF	chr3:109594380-109594530	HMEC	breast:	n/a	n/a
37	CTCF	chr3:109622060-109622210	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr3:109595998-109596065	Lung_OC	lung:	n/a	n/a
39	CTCF	chr3:109602500-109602650	HepG2	liver:	n/a	n/a
40	CTCF	chr3:109649108-109649157	GM10248	blood:	n/a	n/a
41	CTCF	chr3:109622020-109622170	NHEK	skin:	n/a	n/a
42	CTCF	chr3:109622100-109622250	SAEC	small airway:	n/a	n/a
43	CTCF	chr3:109622040-109622190	AG09309	skin:	n/a	n/a
44	CTCF	chr3:109622020-109622170	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr3:109622080-109622230	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr3:109602388-109602475	GM19238	blood:	n/a	n/a
47	CTCF	chr3:109622000-109622150	HMEC	breast:	n/a	n/a
48	CTCF	chr3:109612377-109612417	LNCaP	prostate:	n/a	n/a
49	CTCF	chr3:109622125-109622186	HepG2	liver:	n/a	n/a
50	CTCF	chr3:109622040-109622190	HMF	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:109645423-109645473	SKMC	muscle:	n/a
2	chr3:109645423-109645473	SK-N-SH	brain:	n/a
3	chr3:109645423-109645473	Hepatocyte	liver:	n/a
4	chr3:109645423-109645473	H1-hESC	embryonic stem cell:	embryo
5	chr3:109645423-109645473	HUVEC	blood vessel:	n/a
6	chr3:109645423-109645473	HCT-116	colon:	n/a
7	chr3:109645423-109645473	HL-60	blood:	n/a
8	chr3:109645423-109645473	Caco-2	colon:	n/a
9	chr3:109645423-109645473	HAEpiC	amniotic membrane:	n/a
10	chr3:109645423-109645473	IMR90	lung:	fetal
11	chr3:109645423-109645473	GM12891	blood:	n/a
12	chr3:109645423-109645473	HRPEpiC	eye:	n/a
13	chr3:109645423-109645473	AoSMC	blood vessel:	n/a
14	chr3:109645423-109645473	SK-N-SH_RA	brain:	n/a
15	chr3:109645423-109645473	PrEC	prostate:	n/a
16	chr3:109645423-109645473	Jurkat	blood:	n/a
17	chr3:109645423-109645473	MCF-7	breast:	n/a
18	chr3:109645423-109645473	A549	lung:	n/a
19	chr3:109645423-109645473	NHDF-neo	bronchial:	n/a
20	chr3:109645423-109645473	Hela-S3	cervix:	n/a
21	chr3:109645423-109645473	CMK	blood:	n/a
22	chr3:109645423-109645473	RPTEC	kidney:	n/a
23	chr3:109645423-109645473	ECC-1	luminal epithelium:	n/a
24	chr3:109645423-109645473	K562	blood:	n/a
25	chr3:109645423-109645473	BE2_C	brain:	n/a
26	chr3:109645423-109645473	AG09309	skin:	n/a
27	chr3:109645423-109645473	SAEC	small airway:	n/a
28	chr3:109645423-109645473	HepG2	liver:	n/a
29	chr3:109645423-109645473	ovcar-3	ovarian:	n/a
30	chr3:109645423-109645473	LNCaP	prostate:	n/a
31	chr3:109645423-109645473	BJ	skin:	n/a
32	chr3:109645423-109645473	HRE	kidney:	n/a
33	chr3:109645423-109645473	ProgFib	skin:	n/a
34	chr3:109645423-109645473	NH-A	brain:	n/a
35	chr3:109645423-109645473	HCF	heart:	n/a
36	chr3:109645423-109645473	AG04449	skin:	fetal
37	chr3:109645423-109645473	HPAEpiC	pulmonary alveolar:	n/a
38	chr3:109645423-109645473	NHBE	bronchial:	n/a
39	chr3:109645423-109645473	HEEpiC	esophagus:	n/a
40	chr3:109645423-109645473	AG04450	lung:	fetal
41	chr3:109645423-109645473	GM19239	blood:	n/a
42	chr3:109645423-109645473	GM12878	blood:	n/a
43	chr3:109645423-109645473	GM12892	blood:	n/a
44	chr3:109645423-109645473	U87	brain:	n/a
45	chr3:109645423-109645473	HNPCEpiC	eye:	n/a
46	chr3:109645423-109645473	NT2-D1	testis:	n/a
47	chr3:109645423-109645473	HEK293	kidney:	embryo
48	chr3:109645423-109645473	HIPEpiC	eye:	n/a
49	chr3:109645423-109645473	HCPEpiC	choroid plexus:	n/a
50	chr3:109645423-109645473	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:58935829..58938056-chr3:109671221..109673388,2	MCF-7	breast:
2	chr3:109641317..109642258-chr6:152662604..152663366,2	MCF-7	breast:
3	chr3:109581529..109584501-chr3:109598932..109601248,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214380	TF binding region
ENSG00000214380	CpG island
ENSG00000258231	chromatin interactions

Extended variants
information (count: 1488 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1488 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76951840	chr3:109593632-109593633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565211040	chr3:109593643-109593644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567707325	chr3:109593661-109593662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547338545	chr3:109593698-109593699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145562849	chr3:109593713-109593714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547921843	chr3:109593714-109593715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148965221	chr3:109593722-109593723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536859999	chr3:109593744-109593745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142861837	chr3:109593777-109593778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538237193	chr3:109593797-109593798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181336291	chr3:109593817-109593818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535123468	chr3:109593868-109593869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114780951	chr3:109593903-109593904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368208946	chr3:109593989-109593990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561245467	chr3:109594047-109594048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372834613	chr3:109594084-109594085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572038574	chr3:109594085-109594086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78185654	chr3:109594086-109594087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554245411	chr3:109594105-109594106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9868598	chr3:109594122-109594123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529792024	chr3:109594127-109594128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543226274	chr3:109594129-109594130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186164589	chr3:109594152-109594153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146554379	chr3:109594188-109594189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577133787	chr3:109594207-109594208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190301391	chr3:109594247-109594248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114502156	chr3:109594251-109594252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527690750	chr3:109594252-109594253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568890285	chr3:109594264-109594265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547885050	chr3:109594333-109594334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561383192	chr3:109594401-109594402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116408167	chr3:109594425-109594426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550428143	chr3:109594496-109594497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570253050	chr3:109594535-109594536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546032615	chr3:109595218-109595219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs116292419	chr3:109595260-109595261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs572437940	chr3:109595272-109595273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs369442402	chr3:109595300-109595301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs541471565	chr3:109595326-109595327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs140580039	chr3:109595345-109595346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs115423393	chr3:109595353-109595354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs149280704	chr3:109595433-109595434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs563867467	chr3:109595510-109595511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs79900606	chr3:109595519-109595520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs111703484	chr3:109595527-109595528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs566045361	chr3:109595558-109595559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs186528779	chr3:109595560-109595561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs547809035	chr3:109595578-109595579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs567811282	chr3:109595588-109595589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs375032211	chr3:109595604-109595605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109593600-109594400	Enhancers	HMEC	breast
2	chr3:109594000-109594400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:109594000-109594400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:109594200-109594600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:109595200-109595800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:109618600-109619600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:109618600-109620800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:109618600-109621200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:109618600-109621200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:109618600-109621800	Enhancers	Dnd41	blood
11	chr3:109618800-109619400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:109618800-109619400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr3:109618800-109619600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:109618800-109619600	Enhancers	Small Intestine	intestine
15	chr3:109618800-109620400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr3:109618800-109620400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr3:109618800-109620400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr3:109619000-109620000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:109619000-109620000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr3:109619000-109620000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr3:109619000-109620000	Enhancers	Duodenum Mucosa	Duodenum
22	chr3:109619000-109620400	Enhancers	Hela-S3	cervix
23	chr3:109619000-109621000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr3:109619000-109621200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr3:109619200-109620000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr3:109619400-109620000	Enhancers	Fetal Intestine Large	intestine
27	chr3:109619600-109620400	Enhancers	Stomach Mucosa	stomach
28	chr3:109619800-109621200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr3:109620000-109621200	Weak transcription	Fetal Intestine Large	intestine
30	chr3:109621200-109621400	Enhancers	Fetal Intestine Large	intestine
31	chr3:109621200-109621400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr3:109621200-109621400	Enhancers	Small Intestine	intestine
33	chr3:109621200-109622200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr3:109622200-109622400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr3:109622200-109622400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr3:109624000-109625000	ZNF genes & repeats	Dnd41	blood
37	chr3:109624400-109625000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:109629000-109630600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:109629600-109630000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:109630000-109642400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:109630600-109631000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:109636600-109637400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr3:109636800-109637800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:109637400-109645200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr3:109637600-109637800	Enhancers	A549	lung
46	chr3:109637800-109640600	Weak transcription	A549	lung
47	chr3:109639800-109641000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:109640000-109640800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr3:109640400-109640600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr3:109640400-109640600	Enhancers	HUES48 Cell Line	embryonic stem cell

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