Variant report

Variant	esv3437884
Chromosome Location	chr3:151287303-151309272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr3:151302506-151302736	GM12878	blood:	n/a	chr3:151302639-151302650
2	BATF	chr3:151302504-151302757	GM12878	blood:	n/a	chr3:151302639-151302650
3	BHLHE40	chr3:151298954-151299093	GM12878	blood:	n/a	n/a
4	CBX3	chr3:151305418-151305806	K562	blood:	n/a	n/a
5	CEBPB	chr3:151297674-151298050	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr3:151298555-151298655	H1-hESC	embryonic stem cell:	n/a	chr3:151298600-151298611 chr3:151298600-151298611 chr3:151298575-151298592
7	CEBPB	chr3:151298450-151298724	IMR90	lung:	n/a	chr3:151298600-151298611 chr3:151298600-151298611 chr3:151298575-151298592
8	CEBPB	chr3:151298985-151299057	K562	blood:	n/a	n/a
9	CEBPB	chr3:151298413-151298731	ECC-1	luminal epithelium:	n/a	chr3:151298600-151298611 chr3:151298600-151298611 chr3:151298575-151298592
10	CEBPB	chr3:151297684-151298046	K562	blood:	n/a	n/a
11	CEBPB	chr3:151298386-151298792	Hela-S3	cervix:	n/a	chr3:151298600-151298611 chr3:151298600-151298611 chr3:151298575-151298592
12	CEBPB	chr3:151298480-151298720	K562	blood:	n/a	chr3:151298600-151298611 chr3:151298600-151298611 chr3:151298575-151298592
13	CEBPB	chr3:151297807-151297972	K562	blood:	n/a	n/a
14	CEBPB	chr3:151298368-151298727	ECC-1	luminal epithelium:	n/a	chr3:151298600-151298611 chr3:151298600-151298611 chr3:151298575-151298592
15	CEBPB	chr3:151298477-151298699	A549	lung:	n/a	chr3:151298600-151298611 chr3:151298600-151298611 chr3:151298575-151298592
16	CEBPB	chr3:151297739-151298032	K562	blood:	n/a	n/a
17	CHD2	chr3:151307312-151307523	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr3:151294425-151294701	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr3:151296441-151296525	MCF-7	breast:	n/a	n/a
20	CTCF	chr3:151296480-151296630	HFF-Myc	foreskin:	n/a	n/a
21	CTCF	chr3:151296460-151296610	HA-sp	spinal cord:	n/a	n/a
22	CTCF	chr3:151296440-151296590	HPAF	blood vessel:	n/a	n/a
23	CTCF	chr3:151296400-151296550	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr3:151296320-151296470	RPTEC	kidney:	n/a	n/a
25	CTCF	chr3:151296475-151296487	GM10248	blood:	n/a	n/a
26	CTCF	chr3:151296440-151296590	GM12875	blood:	n/a	n/a
27	CTCF	chr3:151296520-151296670	BE2_C	brain:	n/a	n/a
28	CTCF	chr3:151296520-151296670	HRE	kidney:	n/a	n/a
29	CTCF	chr3:151296400-151296550	GM12865	blood:	n/a	n/a
30	CTCF	chr3:151296414-151296551	GM12878	blood:	n/a	n/a
31	CTCF	chr3:151296340-151296490	HCT-116	colon:	n/a	n/a
32	CTCF	chr3:151296520-151296670	A549	lung:	n/a	n/a
33	CTCF	chr3:151296400-151296550	HPF	lung:	n/a	n/a
34	CTCF	chr3:151296424-151296543	K562	blood:	n/a	n/a
35	CTCF	chr3:151296200-151296350	AG04450	lung:	n/a	n/a
36	CTCF	chr3:151306513-151306560	GM13976	blood:	n/a	n/a
37	CTCF	chr3:151296380-151296530	HMF	breast:	n/a	n/a
38	CTCF	chr3:151296360-151296510	GM12874	blood:	n/a	n/a
39	CTCF	chr3:151296400-151296550	GM12864	blood:	n/a	n/a
40	CTCF	chr3:151296460-151296610	MCF-7	breast:	n/a	n/a
41	CTCF	chr3:151296400-151296550	GM12873	blood:	n/a	n/a
42	CTCF	chr3:151296432-151296535	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr3:151296440-151296590	K562	blood:	n/a	n/a
44	CTCF	chr3:151296465-151296539	GM13977	blood:	n/a	n/a
45	CTCF	chr3:151296420-151296570	GM06990	blood:	n/a	n/a
46	CTCF	chr3:151296380-151296530	AG09309	skin:	n/a	n/a
47	CTCF	chr3:151296400-151296550	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr3:151296480-151296630	BE2_C	brain:	n/a	n/a
49	CTCF	chr3:151296423-151296571	HepG2	liver:	n/a	n/a
50	CTCF	chr3:151296340-151296490	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:151304082..151306609-chr3:151340785..151343221,2	K562	blood:
2	chr3:151295351..151297607-chr3:151300115..151301880,2	K562	blood:
3	chr3:151296689..151298211-chr3:151300245..151302746,2	MCF-7	breast:
4	chr3:151299413..151301641-chr3:151302443..151304307,2	K562	blood:
5	chr3:151297378..151299096-chr3:151301123..151304068,3	K562	blood:
6	chr3:151297378..151299096-chr3:151301123..151304068,3	K562	blood:
7	chr3:151296689..151298211-chr3:151300245..151302746,2	MCF-7	breast:
8	chr3:151301981..151304744-chr3:151305743..151307558,2	K562	blood:
9	chr3:151303163..151304744-chr3:151305743..151307789,2	K562	blood:
10	chr3:151295351..151297607-chr3:151300115..151301880,2	K562	blood:
11	chr3:151299413..151301641-chr3:151302443..151304307,2	K562	blood:
12	chr3:151303163..151304744-chr3:151305743..151307789,2	K562	blood:
13	chr3:151304607..151306547-chr3:151313096..151315639,2	K562	blood:
14	chr3:151301981..151304744-chr3:151305743..151307558,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGSF10-1	chr3:151299327-151299442	XLOC_003286

Variant related genes	Relation type
MIR5186	TF binding region

Extended variants
information (count: 679 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:679 , 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	rs371620134	chr3:151287314-151287315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537174014	chr3:151287315-151287316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557027844	chr3:151287334-151287335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567700585	chr3:151287340-151287341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375010738	chr3:151287350-151287351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7629779	chr3:151287356-151287357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573424698	chr3:151287363-151287364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545639962	chr3:151287380-151287381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559224886	chr3:151287405-151287406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184157154	chr3:151287406-151287407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372516421	chr3:151287411-151287412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187889101	chr3:151287442-151287443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560815891	chr3:151287461-151287462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570734529	chr3:151287499-151287500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529694623	chr3:151287522-151287523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200204234	chr3:151287525-151287526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539805898	chr3:151287532-151287533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571096842	chr3:151287563-151287564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144890247	chr3:151287570-151287571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373976183	chr3:151287583-151287584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532275069	chr3:151287585-151287586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552029183	chr3:151287589-151287590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538597423	chr3:151287598-151287599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147537312	chr3:151287637-151287638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575411517	chr3:151287658-151287659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550665462	chr3:151287705-151287706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567615790	chr3:151287813-151287814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192571353	chr3:151287828-151287829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536667713	chr3:151287829-151287830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546649015	chr3:151287831-151287832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139435396	chr3:151287895-151287896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539375475	chr3:151287935-151287936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111589658	chr3:151287958-151287959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149981023	chr3:151287962-151287963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62272460	chr3:151287971-151287972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113539216	chr3:151287974-151287975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149159728	chr3:151288027-151288028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572923305	chr3:151288033-151288034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374620796	chr3:151288049-151288050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574412882	chr3:151288075-151288076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78591032	chr3:151288092-151288093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34016445	chr3:151288134-151288135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368903049	chr3:151288136-151288137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559919421	chr3:151288142-151288143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576412711	chr3:151288154-151288155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545741625	chr3:151288212-151288213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373641111	chr3:151288220-151288221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531414518	chr3:151288223-151288224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547950763	chr3:151288224-151288225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561456875	chr3:151288261-151288262	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151282400-151287800	Weak transcription	Dnd41	blood
2	chr3:151287800-151289000	Enhancers	Dnd41	blood
3	chr3:151292600-151292800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:151292800-151293000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:151293000-151293600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr3:151293200-151293600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:151293400-151293600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:151293400-151293800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr3:151293600-151294600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:151293600-151297800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:151293800-151294000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:151294000-151295600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:151294200-151295000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:151294200-151295000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:151294600-151294800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr3:151294600-151295000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:151295000-151302400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:151295600-151302000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:151296600-151303400	Enhancers	Dnd41	blood
20	chr3:151297200-151298000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:151297400-151298800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:151297400-151299200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:151297600-151297800	Enhancers	NHDF-Ad	bronchial
24	chr3:151297600-151298400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:151297600-151299000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:151297800-151298000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:151297800-151298000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:151297800-151298600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:151297800-151298600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:151297800-151298800	Weak transcription	NHDF-Ad	bronchial
31	chr3:151297800-151299000	Enhancers	Hela-S3	cervix
32	chr3:151297800-151299600	Enhancers	Adipose Nuclei	Adipose
33	chr3:151297800-151299600	Enhancers	Osteobl	bone
34	chr3:151298000-151298200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:151298000-151298400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:151298000-151298600	Enhancers	Colon Smooth Muscle	Colon
37	chr3:151298000-151299200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr3:151298000-151302400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:151298400-151298600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:151298400-151298800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:151298400-151299200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr3:151298400-151299200	Enhancers	Fetal Intestine Large	intestine
43	chr3:151298400-151299400	Enhancers	Fetal Intestine Small	intestine
44	chr3:151298600-151298800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:151298600-151302400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:151298600-151302400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:151298800-151299000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:151298800-151299000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:151298800-151299200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:151298800-151299400	Enhancers	NHDF-Ad	bronchial

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