Variant report

Variant	esv2754491
Chromosome Location	chr2:140947477-141026986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:158)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:158 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:141015270-141015702	HepG2	liver:	n/a	chr2:141015372-141015383 chr2:141015618-141015631 chr2:141015374-141015385
2	CEBPB	chr2:140972064-140972178	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:141015040-141015528	A549	lung:	n/a	chr2:141015372-141015383 chr2:141015374-141015385
4	CEBPB	chr2:141006315-141006515	A549	lung:	n/a	chr2:141006393-141006404 chr2:141006394-141006405
5	CEBPB	chr2:140955696-140955802	A549	lung:	n/a	n/a
6	CEBPB	chr2:140970085-140970250	A549	lung:	n/a	chr2:140970145-140970154
7	CEBPB	chr2:140969981-140970326	HepG2	liver:	n/a	chr2:140970145-140970154
8	CEBPB	chr2:141006267-141006547	HepG2	liver:	n/a	chr2:141006393-141006404 chr2:141006394-141006405
9	CTCF	chr2:141000580-141000730	HMF	breast:	n/a	n/a
10	CTCF	chr2:141000580-141000730	HPAF	blood vessel:	n/a	n/a
11	CTCF	chr2:141000599-141000741	HepG2	liver:	n/a	n/a
12	CTCF	chr2:141000514-141000804	HepG2	liver:	n/a	n/a
13	CTCF	chr2:141000588-141000723	Gliobla	brain:	n/a	n/a
14	CTCF	chr2:141000540-141000690	HepG2	liver:	n/a	n/a
15	CTCF	chr2:140971493-140971536	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr2:141000554-141000837	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr2:140985145-140985194	GM20000	blood:	n/a	n/a
18	CTCF	chr2:141000560-141000710	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr2:141000600-141000750	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr2:141000600-141000750	BE2_C	brain:	n/a	n/a
21	CTCF	chr2:141000620-141000770	HRE	kidney:	n/a	n/a
22	CTCF	chr2:141000573-141000762	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr2:141000600-141000750	RPTEC	kidney:	n/a	n/a
24	CTCF	chr2:141000600-141000750	HMEC	breast:	n/a	n/a
25	CTCF	chr2:141000580-141000730	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr2:141000580-141000730	HEK293	kidney:	n/a	n/a
27	CTCF	chr2:141000620-141000770	HMEC	breast:	n/a	n/a
28	CTCF	chr2:141000539-141000701	HepG2	liver:	n/a	n/a
29	CTCF	chr2:141000626-141000733	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr2:141000500-141000650	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr2:141000580-141000730	MCF-7	breast:	n/a	n/a
32	CTCF	chr2:141000600-141000750	HCT-116	colon:	n/a	n/a
33	CTCF	chr2:140959760-140959910	RPTEC	kidney:	n/a	n/a
34	CTCF	chr2:141000568-141000741	MCF-7	breast:	n/a	n/a
35	CTCF	chr2:141000540-141000690	A549	lung:	n/a	n/a
36	CTCF	chr2:141000600-141000750	MCF-7	breast:	n/a	n/a
37	CTCF	chr2:141000520-141000670	BE2_C	brain:	n/a	n/a
38	CTCF	chr2:141000680-141000830	HepG2	liver:	n/a	n/a
39	CTCF	chr2:141000551-141000767	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:141000540-141000690	HEK293	kidney:	n/a	n/a
41	CTCF	chr2:141000600-141000750	HMF	breast:	n/a	n/a
42	CTCF	chr2:141000640-141000790	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr2:141000600-141000750	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr2:141000520-141000670	AG04450	lung:	n/a	n/a
45	CTCF	chr2:141000580-141000730	HCT-116	colon:	n/a	n/a
46	CTCF	chr2:141000600-141000750	Caco-2	colon:	n/a	n/a
47	CTCF	chr2:141000500-141000650	RPTEC	kidney:	n/a	n/a
48	CTCF	chr2:141000560-141000710	HRPEpiC	eye:	n/a	n/a
49	E2F4	chr2:141019141-141019341	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr2:141000536-141001084	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:140989005..140991875-chr2:140992469..140995241,2	MCF-7	breast:
2	chr2:140987688..140989881-chr2:140993819..140996733,2	K562	blood:
3	chr2:140988006..140990694-chr2:140993986..140995615,2	MCF-7	breast:
4	chr2:140987688..140989881-chr2:140993819..140996733,2	K562	blood:
5	chr2:140988006..140990694-chr2:140993986..140995615,2	MCF-7	breast:
6	chr2:140989005..140991875-chr2:140992469..140995241,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRP1B-6	chr2:140977233-140977937	NONHSAT074700
2	lnc-LRP1B-6	chr2:140975220-140975526	NONHSAT074700
3	lnc-LRP1B-5	chr2:140978153-140979054	NONHSAT074701
4	lnc-LRP1B-7	chr2:140974566-140974808	NONHSAT074699

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	LRP1B	hsa-miR-335-5p	chr2:140989321-140989343

Variant related genes	Relation type
MTND1P27	TF binding region
ENSG00000227149	TF binding region
MTND2P19	TF binding region

Extended variants
information (count: 624 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:624 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116839002	chr2:140968237-140968238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1008695	chr2:140968308-140968309	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs139806848	chr2:140968321-140968322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574645475	chr2:140968331-140968332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558603450	chr2:140968332-140968333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370736070	chr2:140968364-140968365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149346920	chr2:140968423-140968424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563375631	chr2:140968452-140968453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531811463	chr2:140968453-140968454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13022350	chr2:140968482-140968483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565057012	chr2:140968515-140968516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527654292	chr2:140968527-140968528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554437894	chr2:140968584-140968585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547391141	chr2:140968590-140968591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35723701	chr2:140968601-140968602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372983543	chr2:140968630-140968631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530368713	chr2:140968642-140968643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550347520	chr2:140968649-140968650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534422309	chr2:140968655-140968656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570181449	chr2:140968689-140968690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577473615	chr2:140968710-140968711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139757460	chr2:140968720-140968721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144509632	chr2:140968749-140968750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565801789	chr2:140968786-140968787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534548430	chr2:140968812-140968813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554275380	chr2:140968856-140968857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs36095075	chr2:140968907-140968908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148776223	chr2:140968911-140968912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557105044	chr2:140968931-140968932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576596515	chr2:140968948-140968949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557113436	chr2:140968965-140968966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114639720	chr2:140968969-140968970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10173775	chr2:140969017-140969018	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs10184582	chr2:140969114-140969115	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561173529	chr2:140969117-140969118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375392259	chr2:140969124-140969125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189642530	chr2:140969140-140969141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550241028	chr2:140969199-140969200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564024322	chr2:140969219-140969220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368736697	chr2:140969220-140969221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111544841	chr2:140969248-140969249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370284754	chr2:140969257-140969258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116078853	chr2:140969275-140969276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534748828	chr2:140969293-140969294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10184771	chr2:140969299-140969300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs180773661	chr2:140969304-140969305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537066254	chr2:140969339-140969340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547678715	chr2:140969382-140969383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527684333	chr2:140969396-140969397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564141174	chr2:140969429-140969430	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Mental retardation	17621639	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:140968200-140968600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:140968200-140968600	Enhancers	Fetal Kidney	kidney
3	chr2:140968200-140969200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:140968200-140969600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:140972200-140973800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:140972600-140973000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:140991000-140992400	Enhancers	Fetal Lung	lung
8	chr2:140997200-140997400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:140997400-140997600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:140997600-140998000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:141002400-141003400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:141003400-141004400	Active TSS	Adipose Nuclei	Adipose
13	chr2:141003400-141005400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:141003600-141005800	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr2:141004400-141004600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr2:141004400-141005800	Active TSS	Psoas Muscle	Psoas
17	chr2:141004600-141005400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:141004600-141005800	Enhancers	Adipose Nuclei	Adipose
19	chr2:141005400-141005600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:141005400-141005800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:141005400-141005800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:141005400-141005800	Enhancers	Fetal Lung	lung
23	chr2:141005600-141006200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:141005800-141006600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:141005800-141007200	Weak transcription	Adipose Nuclei	Adipose
26	chr2:141006200-141008000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:141007200-141007800	Enhancers	Adipose Nuclei	Adipose
28	chr2:141015000-141015200	Enhancers	Adipose Nuclei	Adipose
29	chr2:141015000-141015600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:141015200-141015600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:141015200-141015600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:141015200-141015800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:141015200-141015800	Enhancers	HMEC	breast
34	chr2:141015200-141016200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:141015200-141017000	Weak transcription	Adipose Nuclei	Adipose
36	chr2:141015400-141015600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:141017000-141017400	Enhancers	Adipose Nuclei	Adipose
38	chr2:141026600-141027000	Enhancers	Fetal Brain Female	brain

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