Variant report

Variant	esv1816724
Chromosome Location	chr15:62205104-62285146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:235)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:235 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:62281922-62282216	K562	blood:	n/a	n/a
2	BACH1	chr15:62234203-62234206	K562	blood:	n/a	n/a
3	BACH1	chr15:62281967-62282167	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr15:62281910-62282262	K562	blood:	n/a	n/a
5	BCL3	chr15:62255882-62256211	GM12878	blood:	n/a	n/a
6	CEBPB	chr15:62266744-62266785	HepG2	liver:	n/a	n/a
7	CEBPB	chr15:62265849-62266044	K562	blood:	n/a	chr15:62265887-62265898 chr15:62265886-62265897 chr15:62265888-62265897
8	CEBPB	chr15:62275362-62275602	HepG2	liver:	n/a	chr15:62275465-62275476
9	CEBPB	chr15:62239060-62239292	IMR90	lung:	n/a	n/a
10	CEBPB	chr15:62281886-62282169	K562	blood:	n/a	n/a
11	CEBPB	chr15:62265786-62266041	A549	lung:	n/a	chr15:62265887-62265898 chr15:62265886-62265897 chr15:62265888-62265897
12	CEBPB	chr15:62225483-62225689	K562	blood:	n/a	chr15:62225584-62225597 chr15:62225586-62225597 chr15:62225531-62225544 chr15:62225584-62225597 chr15:62225584-62225597 chr15:62225586-62225597
13	CEBPB	chr15:62227747-62228056	Hela-S3	cervix:	n/a	chr15:62227893-62227904
14	CEBPB	chr15:62275251-62275629	MCF-7	breast:	n/a	chr15:62275465-62275476
15	CEBPB	chr15:62275367-62275598	MCF-7	breast:	n/a	chr15:62275465-62275476
16	CEBPB	chr15:62227818-62228070	A549	lung:	n/a	chr15:62227893-62227904
17	CEBPB	chr15:62227701-62228189	K562	blood:	n/a	chr15:62227893-62227904
18	CEBPB	chr15:62265777-62266054	HepG2	liver:	n/a	chr15:62265887-62265898 chr15:62265886-62265897 chr15:62265888-62265897
19	CEBPB	chr15:62275283-62275661	Hela-S3	cervix:	n/a	chr15:62275465-62275476
20	CEBPB	chr15:62232985-62233209	HepG2	liver:	n/a	n/a
21	CHD2	chr15:62221823-62221825	GM12878	blood:	n/a	n/a
22	CTCF	chr15:62208280-62208430	BE2_C	brain:	n/a	n/a
23	CTCF	chr15:62208340-62208490	AG04449	skin:	n/a	n/a
24	CTCF	chr15:62208380-62208530	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr15:62240716-62240764	GM20000	blood:	n/a	n/a
26	CTCF	chr15:62208360-62208510	BJ	skin:	n/a	n/a
27	CTCF	chr15:62208320-62208470	BJ	skin:	n/a	n/a
28	CTCF	chr15:62208360-62208510	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr15:62208280-62208430	NHDF-neo	bronchial:	n/a	n/a
30	CTCF	chr15:62208340-62208490	HAc	cerebellar:	n/a	n/a
31	CTCF	chr15:62208360-62208510	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr15:62208360-62208510	AG10803	skin:	n/a	n/a
33	CTCF	chr15:62208300-62208450	BE2_C	brain:	n/a	n/a
34	CTCF	chr15:62208300-62208450	HPAF	blood vessel:	n/a	n/a
35	CTCF	chr15:62208380-62208530	AG10803	skin:	n/a	n/a
36	CTCF	chr15:62208400-62208550	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr15:62208320-62208470	AG04449	skin:	n/a	n/a
38	CTCF	chr15:62208340-62208490	HMF	breast:	n/a	n/a
39	CUX1	chr15:62267528-62267531	K562	blood:	n/a	n/a
40	E2F4	chr15:62227748-62228018	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr15:62275134-62275334	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr15:62238951-62239488	MCF10A-Er-Src	breast:	n/a	n/a
43	EBF1	chr15:62284982-62285178	GM12878	blood:	n/a	n/a
44	EBF1	chr15:62284943-62285252	GM12878	blood:	n/a	n/a
45	EP300	chr15:62207894-62208181	SK-N-SH_RA	brain:	n/a	n/a
46	EP300	chr15:62228966-62229351	SK-N-SH_RA	brain:	n/a	chr15:62229110-62229120
47	EP300	chr15:62208306-62208691	SK-N-SH_RA	brain:	n/a	n/a
48	EP300	chr15:62208326-62208685	SK-N-SH_RA	brain:	n/a	n/a
49	EP300	chr15:62266955-62267292	SK-N-SH_RA	brain:	n/a	n/a
50	EP300	chr15:62284279-62284461	K562	blood:	n/a	n/a

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:62223179..62225292-chr15:62226281..62228642,2	K562	blood:
2	chr15:62235589..62237658-chr15:62241156..62242944,2	K562	blood:
3	chr15:62268988..62271189-chr15:62273485..62276457,2	MCF-7	breast:
4	chr15:62222450..62224583-chr15:62247796..62249719,2	MCF-7	breast:
5	chr15:62242750..62243662-chr5:173738637..173739199,2	MCF-7	breast:
6	chr15:62248426..62250802-chr15:62259693..62261364,2	K562	blood:
7	chr15:62270934..62272587-chr15:62351243..62353224,2	MCF-7	breast:
8	chr15:62259986..62262200-chr15:62266004..62268197,2	K562	blood:
9	chr15:62235589..62237658-chr15:62241156..62242944,2	K562	blood:
10	chr15:62231542..62233712-chr15:62238622..62240411,2	K562	blood:
11	chr15:62259986..62262200-chr15:62266004..62268197,2	K562	blood:
12	chr15:62283890..62286224-chr15:62350363..62353063,2	K562	blood:
13	chr15:62205557..62210722-chr15:62211814..62216434,5	K562	blood:
14	chr15:62236123..62237658-chr15:62241444..62244261,2	K562	blood:
15	chr15:62279274..62280986-chr15:62358759..62361498,2	MCF-7	breast:
16	chr15:62280133..62283452-chr15:62316207..62318715,3	K562	blood:
17	chr15:62157514..62159480-chr15:62215874..62217523,2	K562	blood:
18	chr15:62268988..62271189-chr15:62273485..62276457,2	MCF-7	breast:
19	chr15:62204266..62207135-chr15:62210768..62213468,2	MCF-7	breast:
20	chr15:62241235..62242799-chr15:62250211..62252735,2	K562	blood:
21	chr15:62249551..62252071-chr15:62252647..62254754,2	MCF-7	breast:
22	chr11:22957855..22958444-chr15:62239142..62239729,2	MCF-7	breast:
23	chr15:62266682..62269656-chr15:62302600..62304271,2	K562	blood:
24	chr15:62222450..62224583-chr15:62247796..62249719,2	MCF-7	breast:
25	chr15:62236123..62237658-chr15:62241444..62244261,2	K562	blood:
26	chr15:62213296..62215607-chr15:62227904..62230544,2	K562	blood:
27	chr15:62248426..62250802-chr15:62259693..62261364,2	K562	blood:
28	chr15:62252284..62254348-chr15:62257141..62258725,2	K562	blood:
29	chr15:62213296..62215607-chr15:62227904..62230544,2	K562	blood:
30	chr15:62223179..62225292-chr15:62226281..62228642,2	K562	blood:
31	chr15:62231542..62233712-chr15:62238622..62240411,2	K562	blood:
32	chr15:62275008..62277065-chr15:62352447..62354062,2	MCF-7	breast:
33	chr15:62241235..62242799-chr15:62250211..62252735,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C2CD4A-10	chr15:62206624-62206875	NONHSAT044263

No data

Variant related genes	Relation type
VPS13C	TF binding region
RN7SL613P	TF binding region
ENSG00000129003	chromatin interactions
ENSG00000259251	chromatin interactions
ENSG00000264376	chromatin interactions
ENSG00000198535	chromatin interactions

Extended variants
information (count: 3331 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:3331 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75685403	chr15:62205109-62205110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192745740	chr15:62205111-62205112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200690655	chr15:62205133-62205134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562780685	chr15:62205136-62205137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12911303	chr15:62205143-62205144	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370824247	chr15:62205174-62205175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543066047	chr15:62205175-62205176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184139743	chr15:62205180-62205181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528561265	chr15:62205237-62205238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547097230	chr15:62205249-62205250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573380536	chr15:62205282-62205283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571742655	chr15:62205302-62205303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532606103	chr15:62205309-62205310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187017788	chr15:62205356-62205357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560419848	chr15:62205369-62205370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535813692	chr15:62205383-62205384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572399459	chr15:62205420-62205421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566493390	chr15:62205454-62205455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200255789	chr15:62205470-62205471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199797519	chr15:62205475-62205476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376992944	chr15:62205501-62205502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542996658	chr15:62205536-62205537	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs577071462	chr15:62205560-62205561	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs369599069	chr15:62205585-62205586	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs538041140	chr15:62205588-62205589	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs148814312	chr15:62205612-62205613	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs556469035	chr15:62205621-62205622	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs374465169	chr15:62205625-62205626	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs373952709	chr15:62205635-62205636	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs368737865	chr15:62205636-62205637	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs376213607	chr15:62205656-62205657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370596836	chr15:62205661-62205662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561102089	chr15:62205690-62205691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572397644	chr15:62205708-62205709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78072007	chr15:62205758-62205759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368435497	chr15:62205779-62205780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142811535	chr15:62205814-62205815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77838058	chr15:62205826-62205827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77153828	chr15:62205886-62205887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77730888	chr15:62205898-62205899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191656702	chr15:62205942-62205943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545278330	chr15:62205944-62205945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370726861	chr15:62205960-62205961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562777763	chr15:62206018-62206019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs151045580	chr15:62206028-62206029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548912144	chr15:62206068-62206069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566335325	chr15:62206093-62206094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184469252	chr15:62206114-62206115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551940017	chr15:62206136-62206137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188871920	chr15:62206196-62206197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:1894 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62142000-62209400	Weak transcription	Colonic Mucosa	Colon
2	chr15:62142400-62253000	Weak transcription	Spleen	Spleen
3	chr15:62142600-62209200	Weak transcription	K562	blood
4	chr15:62143800-62235600	Weak transcription	Fetal Brain Male	brain
5	chr15:62146800-62230000	Weak transcription	Pancreas	Pancrea
6	chr15:62150000-62276200	Weak transcription	Psoas Muscle	Psoas
7	chr15:62184600-62236800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:62185000-62221000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:62185600-62207000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:62185600-62207200	Weak transcription	Hela-S3	cervix
11	chr15:62185600-62208000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:62185600-62208000	Weak transcription	Aorta	Aorta
13	chr15:62185600-62209200	Weak transcription	NHLF	lung
14	chr15:62185600-62262200	Weak transcription	Gastric	stomach
15	chr15:62185600-62333600	Weak transcription	Right Ventricle	heart
16	chr15:62185800-62300000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:62186000-62208000	Weak transcription	Fetal Heart	heart
18	chr15:62187200-62246000	Weak transcription	A549	lung
19	chr15:62188600-62309400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:62193200-62207200	Weak transcription	HMEC	breast
21	chr15:62193800-62208200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:62194600-62207400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:62194600-62210200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr15:62194600-62235400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:62194600-62266800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr15:62194800-62207200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr15:62194800-62225600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr15:62195000-62215000	Strong transcription	Adipose Nuclei	Adipose
29	chr15:62195000-62219800	Strong transcription	Primary B cells from cord blood	blood
30	chr15:62195200-62217800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr15:62195400-62206000	Weak transcription	Ovary	ovary
32	chr15:62195400-62206400	Weak transcription	Fetal Stomach	stomach
33	chr15:62195400-62215200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr15:62195400-62234200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr15:62195400-62235800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:62195600-62206400	Weak transcription	Fetal Intestine Small	intestine
37	chr15:62195600-62285400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr15:62196000-62214800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:62196200-62214600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr15:62196400-62207200	Weak transcription	NHEK	skin
41	chr15:62196400-62210000	Strong transcription	Primary T cells from cord blood	blood
42	chr15:62196400-62225200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr15:62196600-62207200	Weak transcription	Colon Smooth Muscle	Colon
44	chr15:62196800-62215000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr15:62197000-62207800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr15:62197000-62208200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:62197000-62225400	Weak transcription	Esophagus	oesophagus
48	chr15:62197000-62236200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:62197200-62207200	Weak transcription	Brain Germinal Matrix	brain
50	chr15:62197200-62209200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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