Variant report

Variant	esv3433660
Chromosome Location	chr3:98188950-98216650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:183)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:98201583-98202344	MCF-7	breast:	n/a	chr3:98202064-98202075
2	CEBPB	chr3:98201895-98202210	Hela-S3	cervix:	n/a	chr3:98202064-98202075
3	CEBPB	chr3:98201521-98202983	HCT-116	colon:	n/a	chr3:98202064-98202075
4	CEBPB	chr3:98201905-98202171	K562	blood:	n/a	chr3:98202064-98202075
5	CEBPB	chr3:98201905-98202212	HepG2	liver:	n/a	chr3:98202064-98202075
6	CEBPB	chr3:98201687-98202295	MCF-7	breast:	n/a	chr3:98202064-98202075
7	CEBPB	chr3:98200467-98200612	A549	lung:	n/a	n/a
8	CTCF	chr3:98201340-98201490	HCT-116	colon:	n/a	n/a
9	CTCF	chr3:98201320-98201470	MCF-7	breast:	n/a	n/a
10	CTCF	chr3:98201340-98201490	NHEK	skin:	n/a	n/a
11	CTCF	chr3:98201920-98202070	GM12867	blood:	n/a	n/a
12	CTCF	chr3:98201280-98201430	HMEC	breast:	n/a	n/a
13	CTCF	chr3:98201346-98201469	MCF-7	breast:	n/a	n/a
14	CTCF	chr3:98202320-98202470	HEEpiC	esophagus:	n/a	n/a
15	CTCF	chr3:98201458-98201461	NHEK	skin:	n/a	n/a
16	CTCF	chr3:98201400-98201550	GM12864	blood:	n/a	n/a
17	CTCF	chr3:98201372-98201506	MCF-7	breast:	n/a	n/a
18	CTCF	chr3:98201360-98201510	HEK293	kidney:	n/a	n/a
19	CTCF	chr3:98201385-98201456	NHEK	skin:	n/a	n/a
20	CTCF	chr3:98215205-98215259	GM19239	blood:	n/a	n/a
21	CTCF	chr3:98201360-98201510	MCF-7	breast:	n/a	n/a
22	CTCF	chr3:98202580-98202730	HEEpiC	esophagus:	n/a	n/a
23	CTCF	chr3:98201329-98201505	MCF-7	breast:	n/a	n/a
24	CTCF	chr3:98202220-98202370	HMEC	breast:	n/a	n/a
25	CTCF	chr3:98201300-98201450	GM12871	blood:	n/a	n/a
26	CTCF	chr3:98202380-98202530	HEEpiC	esophagus:	n/a	n/a
27	CUX1	chr3:98211457-98211504	GM12878	blood:	n/a	n/a
28	EBF1	chr3:98201923-98202141	GM12878	blood:	n/a	n/a
29	EBF1	chr3:98201894-98202199	GM12878	blood:	n/a	n/a
30	EBF1	chr3:98201849-98202204	GM12878	blood:	n/a	n/a
31	EP300	chr3:98201518-98202096	MCF-7	breast:	n/a	n/a
32	FOS	chr3:98202099-98202319	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr3:98202086-98202283	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr3:98202093-98202315	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr3:98202084-98202368	MCF10A-Er-Src	breast:	n/a	n/a
36	GATA3	chr3:98201558-98201820	T-47D	breast:	n/a	n/a
37	GATA3	chr3:98201340-98202138	MCF-7	breast:	n/a	n/a
38	GATA3	chr3:98201418-98202274	MCF-7	breast:	n/a	n/a
39	GATA3	chr3:98201658-98201972	MCF-7	breast:	n/a	n/a
40	GATA3	chr3:98201590-98201912	T-47D	breast:	n/a	n/a
41	GATA3	chr3:98201492-98202251	MCF-7	breast:	n/a	n/a
42	HDAC2	chr3:98201525-98202035	MCF-7	breast:	n/a	n/a
43	JUND	chr3:98201515-98202195	K562	blood:	n/a	n/a
44	KAP1	chr3:98201504-98202307	HEK293	kidney:	n/a	n/a
45	KAP1	chr3:98201485-98202225	U2OS	brain:	n/a	n/a
46	MAFF	chr3:98207325-98207340	HepG2	liver:	n/a	n/a
47	MAFK	chr3:98207163-98207427	HepG2	liver:	n/a	n/a
48	MAZ	chr3:98202596-98202624	HepG2	liver:	n/a	n/a
49	MYC	chr3:98202119-98202204	MCF-7	breast:	n/a	n/a
50	MYC	chr3:98206718-98206838	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:98189197-98189247	NHBE	bronchial:	n/a
2	chr3:98216207-98216257	PFSK-1	brain:	n/a
3	chr3:98189197-98189247	RPTEC	kidney:	n/a
4	chr3:98216372-98216422	HCM	heart:	n/a
5	chr3:98216207-98216257	Jurkat	blood:	n/a
6	chr3:98216207-98216257	HEEpiC	esophagus:	n/a
7	chr3:98189197-98189247	K562	blood:	n/a
8	chr3:98216207-98216257	BE2_C	brain:	n/a
9	chr3:98216372-98216422	CMK	blood:	n/a
10	chr3:98216372-98216422	Hela-S3	cervix:	n/a
11	chr3:98216372-98216422	NH-A	brain:	n/a
12	chr3:98216207-98216257	BJ	skin:	n/a
13	chr3:98216207-98216257	SKMC	muscle:	n/a
14	chr3:98216372-98216422	AG09309	skin:	n/a
15	chr3:98216207-98216257	HRPEpiC	eye:	n/a
16	chr3:98216372-98216422	HCT-116	colon:	n/a
17	chr3:98216207-98216257	NHDF-neo	bronchial:	n/a
18	chr3:98189197-98189247	SK-N-SH_RA	brain:	n/a
19	chr3:98216372-98216422	NT2-D1	testis:	n/a
20	chr3:98189197-98189247	HRCEpiC	kidney:	n/a
21	chr3:98189197-98189247	NH-A	brain:	n/a
22	chr3:98216207-98216257	HCF	heart:	n/a
23	chr3:98216207-98216257	HAEpiC	amniotic membrane:	n/a
24	chr3:98216207-98216257	Hepatocyte	liver:	n/a
25	chr3:98216207-98216257	HL-60	blood:	n/a
26	chr3:98189197-98189247	CMK	blood:	n/a
27	chr3:98189197-98189247	HRE	kidney:	n/a
28	chr3:98216207-98216257	SAEC	small airway:	n/a
29	chr3:98216207-98216257	SK-N-SH_RA	brain:	n/a
30	chr3:98189197-98189247	ECC-1	luminal epithelium:	n/a
31	chr3:98189197-98189247	IMR90	lung:	fetal
32	chr3:98216372-98216422	GM12891	blood:	n/a
33	chr3:98189197-98189247	Hela-S3	cervix:	n/a
34	chr3:98189197-98189247	HEK293	kidney:	embryo
35	chr3:98216372-98216422	Hepatocyte	liver:	n/a
36	chr3:98216207-98216257	Hela-S3	cervix:	n/a
37	chr3:98216372-98216422	K562	blood:	n/a
38	chr3:98216207-98216257	AG09319	gingival:	n/a
39	chr3:98216207-98216257	Caco-2	colon:	n/a
40	chr3:98216372-98216422	ECC-1	luminal epithelium:	n/a
41	chr3:98189197-98189247	GM19239	blood:	n/a
42	chr3:98216372-98216422	Jurkat	blood:	n/a
43	chr3:98216372-98216422	BE2_C	brain:	n/a
44	chr3:98216372-98216422	T-47D	breast:	n/a
45	chr3:98216372-98216422	GM12878	blood:	n/a
46	chr3:98189197-98189247	AG09309	skin:	n/a
47	chr3:98216372-98216422	Caco-2	colon:	n/a
48	chr3:98189197-98189247	ProgFib	skin:	n/a
49	chr3:98216372-98216422	HepG2	liver:	n/a
50	chr3:98216372-98216422	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:98210056..98212245-chr3:98218332..98220831,2	K562	blood:
2	chr3:98200387..98203207-chr3:98231442..98233594,2	MCF-7	breast:
3	chr3:98213726..98214555-chr9:111785310..111785864,2	MCF-7	breast:
4	chr3:98200698..98203178-chr3:98238300..98240195,2	K562	blood:
5	chr3:98213211..98215290-chr3:98220097..98221858,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR5K2	TF binding region
OR5K2	CpG island
ENSG00000080822	chromatin interactions

Extended variants
information (count: 655 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:655 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530606204	chr3:98200698-98200699	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs561369818	chr3:98200705-98200706	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571675654	chr3:98200713-98200714	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs2222794	chr3:98200745-98200746	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564162713	chr3:98200786-98200787	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2316134	chr3:98200858-98200859	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs552730092	chr3:98200861-98200862	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142746448	chr3:98200921-98200922	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs183505773	chr3:98200924-98200925	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532065231	chr3:98200953-98200954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188581509	chr3:98200991-98200992	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112453133	chr3:98201004-98201005	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2316133	chr3:98201009-98201010	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547618969	chr3:98201015-98201016	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs181035183	chr3:98201030-98201031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539287503	chr3:98201048-98201049	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555915928	chr3:98201077-98201078	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550823248	chr3:98201078-98201079	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575806957	chr3:98201104-98201105	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75123021	chr3:98201116-98201117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555204606	chr3:98201125-98201126	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376323115	chr3:98201152-98201153	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571714220	chr3:98201177-98201178	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs187164416	chr3:98201244-98201245	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564066981	chr3:98201246-98201247	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs577651938	chr3:98201257-98201258	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546109789	chr3:98201274-98201275	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs367546572	chr3:98201300-98201301	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs35620509	chr3:98201308-98201309	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563088435	chr3:98201318-98201319	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564303982	chr3:98201347-98201348	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548901067	chr3:98201364-98201365	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs11914546	chr3:98201381-98201382	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs527722059	chr3:98201421-98201422	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370076312	chr3:98201422-98201423	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs138434866	chr3:98201440-98201441	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113346006	chr3:98201508-98201509	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs142922214	chr3:98201538-98201539	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs71311389	chr3:98201544-98201545	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs367738028	chr3:98201554-98201555	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs555227856	chr3:98201593-98201594	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs146094594	chr3:98201623-98201624	Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs569526849	chr3:98201630-98201631	Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376359860	chr3:98201661-98201662	Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs73856731	chr3:98201666-98201667	Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs555288568	chr3:98201685-98201686	Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189955242	chr3:98201692-98201693	Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs62266489	chr3:98201693-98201694	Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs182529225	chr3:98201706-98201707	Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs532885827	chr3:98201709-98201710	Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98201200-98201600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:98201200-98201600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:98201200-98201600	Enhancers	NHEK	skin
4	chr3:98201200-98203000	Enhancers	HMEC	breast
5	chr3:98201200-98203200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:98201400-98202000	ZNF genes & repeats	Left Ventricle	heart
7	chr3:98201400-98202400	ZNF genes & repeats	Aorta	Aorta
8	chr3:98201400-98202600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
9	chr3:98201600-98202400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr3:98201600-98202600	Enhancers	K562	blood
11	chr3:98201600-98202800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:98201600-98203000	Flanking Active TSS	NHEK	skin
13	chr3:98201600-98203200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:98201800-98203000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr3:98202000-98202400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:98202000-98202400	ZNF genes & repeats	Gastric	stomach
17	chr3:98202000-98202600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:98202400-98206000	Weak transcription	Gastric	stomach
19	chr3:98202800-98203200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:98203000-98203200	Enhancers	NHEK	skin
21	chr3:98203200-98203600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:98205000-98205200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:98205800-98206000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:98206000-98206800	ZNF genes & repeats	Aorta	Aorta
25	chr3:98206000-98206800	ZNF genes & repeats	Gastric	stomach
26	chr3:98206200-98206400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:98206400-98206800	ZNF genes & repeats	Pancreas	Pancrea
28	chr3:98206800-98207800	Weak transcription	Aorta	Aorta
29	chr3:98206800-98240800	Weak transcription	Pancreas	Pancrea
30	chr3:98210800-98213200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:98211600-98212000	Enhancers	Fetal Heart	heart
32	chr3:98213200-98213400	Enhancers	NHEK	skin
33	chr3:98213200-98214000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:98213400-98213600	Flanking Active TSS	NHEK	skin
35	chr3:98213400-98214000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:98213600-98213800	Enhancers	NHEK	skin
37	chr3:98213600-98214000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:98213800-98214000	Flanking Active TSS	NHEK	skin
39	chr3:98214000-98225000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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