Variant report

Variant	esv3449164
Chromosome Location	chr3:151425303-151453439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:151443775-151444178	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:151443897-151444261	K562	blood:	n/a	n/a
3	BCLAF1	chr3:151443822-151444245	K562	blood:	n/a	n/a
4	CBX3	chr3:151443577-151444276	K562	blood:	n/a	n/a
5	CBX3	chr3:151442942-151443414	K562	blood:	n/a	n/a
6	CBX3	chr3:151443675-151444187	K562	blood:	n/a	n/a
7	CCNT2	chr3:151443839-151444128	K562	blood:	n/a	n/a
8	CEBPB	chr3:151451334-151451585	A549	lung:	n/a	n/a
9	CEBPB	chr3:151443770-151444145	HepG2	liver:	n/a	n/a
10	CEBPB	chr3:151443826-151444172	K562	blood:	n/a	n/a
11	CEBPB	chr3:151443677-151444144	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr3:151448019-151448350	HepG2	liver:	n/a	chr3:151448197-151448208
13	CEBPB	chr3:151443812-151444137	MCF-7	breast:	n/a	n/a
14	CEBPB	chr3:151451352-151451585	K562	blood:	n/a	n/a
15	CEBPB	chr3:151443717-151444205	K562	blood:	n/a	n/a
16	CEBPB	chr3:151451395-151451688	Hela-S3	cervix:	n/a	n/a
17	CEBPD	chr3:151443789-151444237	K562	blood:	n/a	n/a
18	CEBPD	chr3:151443731-151444293	K562	blood:	n/a	n/a
19	CHD2	chr3:151435643-151435843	K562	blood:	n/a	n/a
20	CTCF	chr3:151434240-151434390	GM12866	blood:	n/a	n/a
21	CUX1	chr3:151443678-151444152	K562	blood:	n/a	n/a
22	E2F4	chr3:151428891-151429039	MCF10A-Er-Src	breast:	n/a	n/a
23	EP300	chr3:151443914-151444179	K562	blood:	n/a	n/a
24	EP300	chr3:151443907-151444134	HepG2	liver:	n/a	n/a
25	EP300	chr3:151443621-151444081	Hela-S3	cervix:	n/a	n/a
26	EP300	chr3:151443825-151444231	K562	blood:	n/a	n/a
27	EP300	chr3:151432904-151433182	SK-N-SH_RA	brain:	n/a	n/a
28	FOS	chr3:151426178-151426215	MCF10A-Er-Src	breast:	n/a	n/a
29	FOXA1	chr3:151443874-151444085	T-47D	breast:	n/a	n/a
30	GABPA	chr3:151443831-151444104	K562	blood:	n/a	n/a
31	GATA1	chr3:151443720-151444411	K562	blood:	n/a	n/a
32	GATA2	chr3:151443771-151444263	K562	blood:	n/a	n/a
33	GATA2	chr3:151443807-151444240	K562	blood:	n/a	n/a
34	GATA3	chr3:151430546-151430953	T-47D	breast:	n/a	n/a
35	GATA3	chr3:151435715-151436026	T-47D	breast:	n/a	n/a
36	HMGN3	chr3:151443852-151444122	K562	blood:	n/a	n/a
37	IRF1	chr3:151450830-151450872	K562	blood:	n/a	n/a
38	JUN	chr3:151443801-151444213	K562	blood:	n/a	n/a
39	JUND	chr3:151443863-151444170	K562	blood:	n/a	n/a
40	JUND	chr3:151427717-151427981	HepG2	liver:	n/a	chr3:151427868-151427879
41	KAP1	chr3:151443448-151444379	K562	blood:	n/a	n/a
42	KAP1	chr3:151431368-151431623	K562	blood:	n/a	n/a
43	KAP1	chr3:151436861-151437136	K562	blood:	n/a	n/a
44	MAFK	chr3:151425158-151425355	HepG2	liver:	n/a	chr3:151425254-151425270
45	MAFK	chr3:151425682-151425873	HepG2	liver:	n/a	n/a
46	MAFK	chr3:151425059-151425424	IMR90	lung:	n/a	chr3:151425254-151425270
47	MAFK	chr3:151425150-151425367	K562	blood:	n/a	chr3:151425254-151425270
48	MAFK	chr3:151450807-151451007	HepG2	liver:	n/a	chr3:151450891-151450907 chr3:151450892-151450906 chr3:151450889-151450909 chr3:151450893-151450903
49	MAFK	chr3:151437500-151437577	HepG2	liver:	n/a	chr3:151437542-151437557
50	MAFK	chr3:151437454-151437576	HepG2	liver:	n/a	chr3:151437542-151437557

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:151450877-151450927	K562	blood:	n/a
2	chr3:151450877-151450927	ProgFib	skin:	n/a
3	chr3:151450877-151450927	HCT-116	colon:	n/a
4	chr3:151450877-151450927	A549	lung:	n/a
5	chr3:151450877-151450927	HCM	heart:	n/a
6	chr3:151450877-151450927	HPAEpiC	pulmonary alveolar:	n/a
7	chr3:151450877-151450927	RPTEC	kidney:	n/a
8	chr3:151450877-151450927	HEK293	kidney:	embryo
9	chr3:151450877-151450927	MCF-7	breast:	n/a
10	chr3:151450877-151450927	HRCEpiC	kidney:	n/a
11	chr3:151450877-151450927	GM06990	blood:	n/a
12	chr3:151450877-151450927	PrEC	prostate:	n/a
13	chr3:151450877-151450927	HRPEpiC	eye:	n/a
14	chr3:151450877-151450927	AG10803	skin:	n/a
15	chr3:151450877-151450927	LNCaP	prostate:	n/a
16	chr3:151450877-151450927	NH-A	brain:	n/a
17	chr3:151450877-151450927	Jurkat	blood:	n/a
18	chr3:151450877-151450927	HEEpiC	esophagus:	n/a
19	chr3:151450877-151450927	GM12891	blood:	n/a
20	chr3:151450877-151450927	AG09309	skin:	n/a
21	chr3:151450877-151450927	PANC-1	pancreas:	n/a
22	chr3:151450877-151450927	AG04449	skin:	fetal
23	chr3:151450877-151450927	NHBE	bronchial:	n/a
24	chr3:151450877-151450927	BJ	skin:	n/a
25	chr3:151450877-151450927	SAEC	small airway:	n/a
26	chr3:151450877-151450927	SKMC	muscle:	n/a
27	chr3:151450877-151450927	BE2_C	brain:	n/a
28	chr3:151450877-151450927	Caco-2	colon:	n/a
29	chr3:151450877-151450927	ECC-1	luminal epithelium:	n/a
30	chr3:151450877-151450927	H1-hESC	embryonic stem cell:	embryo
31	chr3:151450877-151450927	T-47D	breast:	n/a
32	chr3:151450877-151450927	HAEpiC	amniotic membrane:	n/a
33	chr3:151450877-151450927	HCF	heart:	n/a
34	chr3:151450877-151450927	SK-N-MC	brain:	n/a
35	chr3:151450877-151450927	SK-N-SH	brain:	n/a
36	chr3:151450877-151450927	CMK	blood:	n/a
37	chr3:151450877-151450927	HUVEC	blood vessel:	n/a
38	chr3:151450877-151450927	NB4	blood:	n/a
39	chr3:151450877-151450927	HL-60	blood:	n/a
40	chr3:151450877-151450927	GM12878	blood:	n/a
41	chr3:151450877-151450927	U87	brain:	n/a
42	chr3:151450877-151450927	AoSMC	blood vessel:	n/a
43	chr3:151450877-151450927	HMEC	breast:	n/a
44	chr3:151450877-151450927	GM12892	blood:	n/a
45	chr3:151450877-151450927	ovcar-3	ovarian:	n/a
46	chr3:151450877-151450927	SK-N-SH_RA	brain:	n/a
47	chr3:151450877-151450927	PFSK-1	brain:	n/a
48	chr3:151450877-151450927	HIPEpiC	eye:	n/a
49	chr3:151450877-151450927	HCPEpiC	choroid plexus:	n/a
50	chr3:151450877-151450927	IMR90	lung:	fetal

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:151444366..151446044-chr3:151451730..151454424,2	K562	blood:
2	chr3:151444366..151446044-chr3:151451730..151454424,2	K562	blood:
3	chr3:151431329..151433850-chr3:151438091..151440108,2	MCF-7	breast:
4	chr3:151453251..151454783-chr3:151460119..151462798,2	K562	blood:
5	chr3:151427612..151430257-chr3:151497174..151499333,2	K562	blood:
6	chr3:151441319..151443969-chr3:151457373..151459634,2	K562	blood:
7	chr3:151431329..151433850-chr3:151438091..151440108,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AADACL2-3	chr3:151439412-151439527	l_2497_chr3:151439194-151440619_testes
2	lnc-AADACL2-3	chr3:151440362-151440619	l_2497_chr3:151439194-151440619_testes
3	lnc-AADACL2-3	chr3:151439195-151439307	l_2497_chr3:151439194-151440619_testes

No data

Variant related genes	Relation type
AADACL2	TF binding region
AADACL2	CpG island

Extended variants
information (count: 823 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:823 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563148803	chr3:151425358-151425359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559749729	chr3:151425375-151425376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531992994	chr3:151425397-151425398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143276743	chr3:151425434-151425435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562447887	chr3:151425441-151425442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531468558	chr3:151425445-151425446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548408231	chr3:151425488-151425489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568160241	chr3:151425501-151425502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543706960	chr3:151425528-151425529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375858268	chr3:151425535-151425536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562152562	chr3:151425540-151425541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111700707	chr3:151425558-151425559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs5853537	chr3:151425588-151425589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199615797	chr3:151425594-151425595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200987746	chr3:151425595-151425596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116055224	chr3:151425600-151425601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566938043	chr3:151425606-151425607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184928655	chr3:151425653-151425654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539037368	chr3:151425660-151425661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs67143682	chr3:151425815-151425816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376877637	chr3:151425816-151425817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558950127	chr3:151425916-151425917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111353294	chr3:151425961-151425962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146348515	chr3:151425997-151425998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555170660	chr3:151425999-151426000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574916752	chr3:151426016-151426017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs976743	chr3:151426045-151426046	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553470608	chr3:151426105-151426106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200582769	chr3:151426129-151426130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576485470	chr3:151426136-151426137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545407644	chr3:151426240-151426241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528746763	chr3:151426275-151426276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531679211	chr3:151426350-151426351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190218126	chr3:151426357-151426358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570504530	chr3:151426424-151426425	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs116788843	chr3:151426446-151426447	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs139689405	chr3:151426462-151426463	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs547567063	chr3:151426479-151426480	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs56287699	chr3:151426536-151426537	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs540675863	chr3:151426552-151426553	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs532642782	chr3:151426619-151426620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552650051	chr3:151426621-151426622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569134148	chr3:151426625-151426626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538562179	chr3:151426654-151426655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114903715	chr3:151426663-151426664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568706360	chr3:151426686-151426687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144442554	chr3:151426688-151426689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62274205	chr3:151426721-151426722	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs551032002	chr3:151426785-151426786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35998959	chr3:151426822-151426823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151424800-151427800	Enhancers	NH-A	brain
2	chr3:151425000-151425400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr3:151425200-151425800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:151425200-151426200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:151425400-151425800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:151425600-151427000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:151425800-151427000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:151425800-151427600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:151426000-151426600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:151426000-151427000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:151426200-151426600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr3:151426200-151427000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:151426200-151427000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:151426200-151427000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:151426400-151426600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:151426400-151426800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr3:151426400-151426800	Enhancers	Stomach Mucosa	stomach
18	chr3:151426400-151427000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:151426400-151427400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:151426600-151439000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:151426800-151427400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:151427000-151427400	Enhancers	Stomach Mucosa	stomach
23	chr3:151427400-151427800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:151432600-151433400	Enhancers	Fetal Lung	lung
25	chr3:151442800-151445400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:151443600-151444000	ZNF genes & repeats	K562	blood
27	chr3:151443600-151444600	Enhancers	HepG2	liver
28	chr3:151444000-151450400	Weak transcription	K562	blood
29	chr3:151445400-151446400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:151450400-151451200	Enhancers	K562	blood
31	chr3:151450600-151451000	Enhancers	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links