Variant report

Variant	esv3463450
Chromosome Location	chr3:101356762-101361660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:264)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:101356991-101357339	K562	blood:	n/a	n/a
2	ARID3A	chr3:101360365-101360752	K562	blood:	n/a	n/a
3	ARID3A	chr3:101361093-101361626	K562	blood:	n/a	n/a
4	ARID3A	chr3:101359815-101359913	K562	blood:	n/a	n/a
5	ARID3A	chr3:101359236-101359436	K562	blood:	n/a	n/a
6	ATF1	chr3:101360466-101360827	K562	blood:	n/a	n/a
7	ATF1	chr3:101359225-101359625	K562	blood:	n/a	n/a
8	ATF1	chr3:101361245-101361583	K562	blood:	n/a	n/a
9	BHLHE40	chr3:101357627-101357689	K562	blood:	n/a	n/a
10	BHLHE40	chr3:101360557-101360587	K562	blood:	n/a	n/a
11	BHLHE40	chr3:101356930-101357299	K562	blood:	n/a	n/a
12	BHLHE40	chr3:101361287-101361626	K562	blood:	n/a	n/a
13	CCNT2	chr3:101361439-101361590	K562	blood:	n/a	n/a
14	CCNT2	chr3:101360463-101360967	K562	blood:	n/a	n/a
15	CEBPB	chr3:101360213-101360686	K562	blood:	n/a	n/a
16	CEBPB	chr3:101359827-101359896	K562	blood:	n/a	n/a
17	CEBPD	chr3:101360267-101360795	K562	blood:	n/a	n/a
18	CTCF	chr3:101357070-101357273	HepG2	liver:	n/a	n/a
19	CTCF	chr3:101357100-101357250	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr3:101357140-101357290	RPTEC	kidney:	n/a	n/a
21	CTCF	chr3:101357140-101357290	HPF	lung:	n/a	n/a
22	CTCF	chr3:101357080-101357230	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr3:101357040-101357190	GM12865	blood:	n/a	n/a
24	CTCF	chr3:101357060-101357210	GM12878	blood:	n/a	n/a
25	CTCF	chr3:101357060-101357210	BE2_C	brain:	n/a	n/a
26	CTCF	chr3:101357120-101357233	GM10266	blood:	n/a	n/a
27	CTCF	chr3:101357040-101357190	AG04450	lung:	n/a	n/a
28	CTCF	chr3:101356905-101357308	MCF-7	breast:	n/a	n/a
29	CTCF	chr3:101357118-101357201	NHEK	skin:	n/a	n/a
30	CTCF	chr3:101357140-101357152	LNCaP	prostate:	n/a	n/a
31	CTCF	chr3:101357187-101357241	MCF-7	breast:	n/a	n/a
32	CTCF	chr3:101356980-101357130	GM12869	blood:	n/a	n/a
33	CTCF	chr3:101356970-101357333	GM12878	blood:	n/a	n/a
34	CTCF	chr3:101357100-101357250	GM12864	blood:	n/a	n/a
35	CTCF	chr3:101357120-101357270	Caco-2	colon:	n/a	n/a
36	CTCF	chr3:101357060-101357210	GM12874	blood:	n/a	n/a
37	CTCF	chr3:101357120-101357410	GM06990	blood:	n/a	n/a
38	CTCF	chr3:101357138-101357254	MCF-7	breast:	n/a	n/a
39	CTCF	chr3:101356840-101356990	WI-38	lung:	n/a	n/a
40	CTCF	chr3:101357060-101357257	MCF-7	breast:	n/a	n/a
41	CTCF	chr3:101357080-101357230	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr3:101357080-101357262	GM12892	blood:	n/a	n/a
43	CTCF	chr3:101357087-101357243	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr3:101357020-101357170	GM06990	blood:	n/a	n/a
45	CTCF	chr3:101357060-101357210	HRE	kidney:	n/a	n/a
46	CTCF	chr3:101357137-101357238	GM13976	blood:	n/a	n/a
47	CTCF	chr3:101357060-101357210	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr3:101357078-101357253	K562	blood:	n/a	n/a
49	CTCF	chr3:101357040-101357190	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr3:101357124-101357242	GM13977	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:101356897..101358626-chr3:101404065..101405889,2	K562	blood:
2	chr3:101292768..101294361-chr3:101357910..101360353,2	K562	blood:
3	chr3:101354125..101359417-chr3:101402279..101407297,7	K562	blood:
4	chr3:101290462..101294650-chr3:101353869..101359325,5	MCF-7	breast:
5	chr3:101100587..101101297-chr3:101356616..101357604,3	MCF-7	breast:
6	chr3:101290829..101293797-chr3:101356493..101360609,3	K562	blood:
7	chr3:101279160..101282179-chr3:101355141..101357890,3	MCF-7	breast:
8	chr3:101357931..101359900-chr3:101366433..101368278,2	K562	blood:
9	chr3:101360573..101363913-chr3:101365432..101368273,3	K562	blood:
10	chr3:100948344..100949129-chr3:101356737..101357345,3	MCF-7	breast:
11	chr3:101361008..101362926-chr3:101370600..101373515,2	K562	blood:
12	chr3:101359985..101362723-chr3:101395223..101396875,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000201511	TF binding region
ENSG00000174173	chromatin interactions
ENSG00000066422	chromatin interactions
ENSG00000081154	chromatin interactions
ENSG00000256628	chromatin interactions
ENSG00000201511	chromatin interactions
ENSG00000114391	chromatin interactions

Extended variants
information (count: 167 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572828215	chr3:101356793-101356794	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs192639357	chr3:101356845-101356846	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs115749789	chr3:101356848-101356849	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs528836235	chr3:101356859-101356860	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs543863890	chr3:101356902-101356903	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs184532908	chr3:101356913-101356914	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs532871707	chr3:101356944-101356945	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs566562626	chr3:101356998-101356999	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs62282212	chr3:101357005-101357006	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs139698260	chr3:101357008-101357009	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs149786569	chr3:101357025-101357026	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs201174973	chr3:101357031-101357032	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs189015308	chr3:101357049-101357050	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs538284622	chr3:101357059-101357060	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs529097035	chr3:101357091-101357092	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs192335670	chr3:101357097-101357098	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs78229644	chr3:101357106-101357107	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs538734497	chr3:101357150-101357151	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs550613354	chr3:101357152-101357153	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs372521462	chr3:101357168-101357169	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs13088842	chr3:101357206-101357207	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572662950	chr3:101357212-101357213	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs540141770	chr3:101357216-101357217	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs145538575	chr3:101357241-101357242	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs80007466	chr3:101357249-101357250	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs62282213	chr3:101357257-101357258	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs544230167	chr3:101357302-101357303	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs538126012	chr3:101357395-101357396	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs562322951	chr3:101357428-101357429	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs533070266	chr3:101357436-101357437	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs147726813	chr3:101357547-101357548	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs551008671	chr3:101357561-101357562	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs12152249	chr3:101357566-101357567	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs560676288	chr3:101357590-101357591	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs558062647	chr3:101357596-101357597	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs527838667	chr3:101357634-101357635	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs370216202	chr3:101357647-101357648	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs188818746	chr3:101357702-101357703	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs531893276	chr3:101357703-101357704	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs112561941	chr3:101357726-101357727	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs571521737	chr3:101357730-101357731	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs184817985	chr3:101357734-101357735	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs547442373	chr3:101357751-101357752	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs113875575	chr3:101357754-101357755	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs189787135	chr3:101357770-101357771	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs533781238	chr3:101357831-101357832	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs555129071	chr3:101357899-101357900	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs180864475	chr3:101358044-101358045	Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs185801192	chr3:101358096-101358097	Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs9827465	chr3:101358100-101358101	Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101350600-101366800	Weak transcription	Fetal Brain Female	brain
2	chr3:101354000-101356800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:101354200-101357000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:101354800-101366800	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:101355000-101356800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:101355000-101366800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:101355200-101356800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:101355200-101357000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:101355200-101357000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:101355200-101363000	Weak transcription	Fetal Thymus	thymus
11	chr3:101355200-101365000	Weak transcription	Right Atrium	heart
12	chr3:101355200-101367400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:101355200-101367600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:101355600-101357000	Weak transcription	HepG2	liver
15	chr3:101355600-101366400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr3:101355600-101366600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:101355600-101366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:101355600-101366600	Weak transcription	Adipose Nuclei	Adipose
19	chr3:101355600-101367000	Weak transcription	A549	lung
20	chr3:101355600-101367000	Weak transcription	Dnd41	blood
21	chr3:101355600-101367400	Weak transcription	Right Ventricle	heart
22	chr3:101355600-101368600	Weak transcription	GM12878-XiMat	blood
23	chr3:101356000-101367400	Weak transcription	Aorta	Aorta
24	chr3:101356400-101357400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:101356400-101357400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:101356400-101357600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:101356600-101357000	Transcr. at gene 5' and 3'	K562	blood
28	chr3:101356600-101357600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:101356600-101357800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr3:101356600-101358000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:101356800-101357400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr3:101356800-101357400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:101356800-101357400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:101356800-101357400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr3:101356800-101357400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:101356800-101357800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:101356800-101357800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:101356800-101357800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr3:101356800-101362400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr3:101357000-101357200	Enhancers	HepG2	liver
41	chr3:101357000-101357600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr3:101357000-101357800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr3:101357000-101357800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr3:101357000-101357800	Active TSS	K562	blood
45	chr3:101357200-101357600	Active TSS	HepG2	liver
46	chr3:101357400-101357600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr3:101357400-101361400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr3:101357400-101362000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr3:101357400-101362200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr3:101357400-101362200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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