Variant report

Variant	nsv1035319
Chromosome Location	chr12:26020667-26097148
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:232)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:3)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:232 , 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	ATF1	chr12:26036405-26036723	K562	blood:	n/a	n/a
2	ATF1	chr12:26041970-26042037	K562	blood:	n/a	n/a
3	ATF1	chr12:26075574-26075575	K562	blood:	n/a	n/a
4	BRCA1	chr12:26077653-26077950	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr12:26092599-26092927	IMR90	lung:	n/a	chr12:26092758-26092771 chr12:26092758-26092769
6	CEBPB	chr12:26039269-26039445	A549	lung:	n/a	chr12:26039326-26039337
7	CEBPB	chr12:26092573-26092928	Hela-S3	cervix:	n/a	chr12:26092758-26092771 chr12:26092758-26092769
8	CEBPB	chr12:26089679-26089732	HepG2	liver:	n/a	chr12:26089690-26089701
9	CEBPB	chr12:26039146-26039346	Hela-S3	cervix:	n/a	chr12:26039326-26039337
10	CEBPB	chr12:26077464-26078089	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr12:26092592-26092893	K562	blood:	n/a	chr12:26092758-26092771 chr12:26092758-26092769
12	CEBPB	chr12:26056580-26056907	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr12:26092598-26092933	HepG2	liver:	n/a	chr12:26092758-26092771 chr12:26092758-26092769
14	CEBPB	chr12:26039256-26039419	HepG2	liver:	n/a	chr12:26039326-26039337
15	CEBPB	chr12:26028588-26028894	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr12:26046677-26046680	HepG2	liver:	n/a	n/a
17	CEBPB	chr12:26092602-26092887	H1-hESC	embryonic stem cell:	n/a	chr12:26092758-26092771 chr12:26092758-26092769
18	CEBPB	chr12:26092616-26092930	A549	lung:	n/a	chr12:26092758-26092771 chr12:26092758-26092769
19	CEBPB	chr12:26040319-26040517	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr12:26053002-26053155	HepG2	liver:	n/a	chr12:26053077-26053088
21	CEBPB	chr12:26039775-26039866	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr12:26077451-26078024	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr12:26095504-26095582	HepG2	liver:	n/a	n/a
24	CTCF	chr12:26050161-26050263	GM19240	blood:	n/a	n/a
25	CTCF	chr12:26088820-26088970	HAc	cerebellar:	n/a	n/a
26	CTCF	chr12:26088780-26088930	HEK293	kidney:	n/a	n/a
27	CTCF	chr12:26023711-26023731	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr12:26077420-26077570	BJ	skin:	n/a	n/a
29	CTCF	chr12:26050132-26050293	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr12:26088823-26088897	ProgFib	skin:	n/a	n/a
31	CTCF	chr12:26077500-26077650	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr12:26088880-26089030	BJ	skin:	n/a	n/a
33	CTCF	chr12:26088820-26088970	Caco-2	colon:	n/a	n/a
34	CTCF	chr12:26088640-26088790	BJ	skin:	n/a	n/a
35	CTCF	chr12:26060000-26060150	AG09309	skin:	n/a	n/a
36	CTCF	chr12:26088720-26088870	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr12:26088809-26088870	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr12:26088640-26088790	Caco-2	colon:	n/a	n/a
39	CTCF	chr12:26077460-26077610	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr12:26031836-26031928	GM20000	blood:	n/a	n/a
41	CTCF	chr12:26088860-26089010	RPTEC	kidney:	n/a	n/a
42	CTCF	chr12:26050160-26050223	GM13977	blood:	n/a	n/a
43	CTCF	chr12:26088760-26088910	HRPEpiC	eye:	n/a	n/a
44	CTCF	chr12:26077480-26077630	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr12:26088840-26088990	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr12:26021240-26021390	AG10803	skin:	n/a	n/a
47	CTCF	chr12:26088740-26088890	AG04449	skin:	n/a	n/a
48	CTCF	chr12:26050000-26050150	HVMF	connective:	n/a	n/a
49	CTCF	chr12:26020780-26020930	GM12869	blood:	n/a	n/a
50	CTCF	chr12:26077480-26077630	HEK293	kidney:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:26047646..26049706-chr12:26058324..26060174,2	K562	blood:
2	chr12:26062220..26065200-chr12:26065485..26067609,2	K562	blood:
3	chr12:26088641..26091375-chr12:26093087..26096585,3	MCF-7	breast:
4	chr12:26052571..26054359-chr12:26055750..26057714,2	K562	blood:
5	chr12:26083077..26084676-chr12:26111179..26112864,2	MCF-7	breast:
6	chr12:26088715..26091033-chr12:26109828..26112264,2	MCF-7	breast:
7	chr12:26088641..26091375-chr12:26093087..26096585,3	MCF-7	breast:
8	chr12:26047646..26049706-chr12:26058324..26060174,2	K562	blood:
9	chr12:26052571..26054359-chr12:26055750..26057714,2	K562	blood:
10	chr12:26062220..26065200-chr12:26065485..26067609,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BHLHE41-3	chr12:26035888-26036242	ENSG00000256256
2	lnc-BHLHE41-3	chr12:26038658-26038788	ENSG00000256256
3	lnc-BHLHE41-2	chr12:26092262-26092439	ENSG00000246695

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4302	chr12:26026985-26027002	MIMAT0016855

No data

Variant related genes	Relation type
ENSG00000256256	TF binding region
ENSG00000246695	chromatin interactions
ENSG00000123094	chromatin interactions
PAFAH1B1	miRNA target sites
SEC16A	miRNA target sites
ZMAT3	miRNA target sites

Extended variants
information (count: 3073 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:3073 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552614046	chr12:26020761-26020762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs55887507	chr12:26020785-26020786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540644648	chr12:26020799-26020800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541487485	chr12:26020820-26020821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563291885	chr12:26020829-26020830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530752260	chr12:26020857-26020858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145318932	chr12:26020868-26020869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150958689	chr12:26020886-26020887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73086129	chr12:26020913-26020914	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs116759765	chr12:26020918-26020919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71450759	chr12:26020921-26020922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568499476	chr12:26020933-26020934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183793329	chr12:26020947-26020948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113190556	chr12:26020963-26020964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs55634362	chr12:26020970-26020971	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs55894642	chr12:26021041-26021042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539744980	chr12:26021146-26021147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140797775	chr12:26021212-26021213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377682988	chr12:26021218-26021219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531938058	chr12:26021250-26021251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55790217	chr12:26021267-26021268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397932553	chr12:26021274-26021275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150086699	chr12:26021294-26021295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186651597	chr12:26021322-26021323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555907034	chr12:26021368-26021369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574494145	chr12:26021369-26021370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562148383	chr12:26021395-26021396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541898553	chr12:26021407-26021408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192489683	chr12:26021428-26021429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527757867	chr12:26021576-26021577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537285093	chr12:26021641-26021642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556693908	chr12:26021661-26021662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376790556	chr12:26021673-26021674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7966150	chr12:26021678-26021679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546141427	chr12:26021721-26021722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564339464	chr12:26021739-26021740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11048310	chr12:26021745-26021746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs114753511	chr12:26021852-26021853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183333311	chr12:26021853-26021854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1183829	chr12:26021856-26021857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529409824	chr12:26021888-26021889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551003846	chr12:26021893-26021894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570785469	chr12:26021898-26021899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569177408	chr12:26021914-26021915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533119656	chr12:26021928-26021929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149151074	chr12:26021935-26021936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138397834	chr12:26021967-26021968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142875761	chr12:26022017-26022018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534218519	chr12:26022030-26022031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555723232	chr12:26022050-26022051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17133270	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26019800-26020800	Weak transcription	Placenta	Placenta
2	chr12:26020200-26024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:26020800-26021000	Enhancers	Placenta	Placenta
4	chr12:26021000-26024000	Weak transcription	Placenta	Placenta
5	chr12:26021800-26022200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:26024800-26025000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:26024800-26025000	Enhancers	Pancreas	Pancrea
8	chr12:26025000-26027200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:26025600-26026200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:26026200-26028000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:26026400-26028000	Weak transcription	Placenta	Placenta
12	chr12:26027200-26027400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:26027400-26027800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:26027600-26030200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:26027800-26028400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:26028000-26028600	Enhancers	Placenta	Placenta
17	chr12:26028000-26029400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:26028000-26030000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:26028200-26028600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr12:26028200-26028600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:26028200-26029000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr12:26028400-26029000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:26028400-26029000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:26028400-26029400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:26028600-26034800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:26029000-26030200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:26029400-26029600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:26029400-26030200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:26030200-26030400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:26030200-26030400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:26030400-26030600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:26030400-26031600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:26034800-26035400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:26035000-26036600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:26035400-26037200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:26036000-26036400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr12:26036000-26036800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:26036600-26037800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:26037000-26037600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:26037200-26037400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr12:26037200-26037400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr12:26037200-26042400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:26037400-26038400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:26037400-26039400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr12:26037400-26039600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr12:26037600-26038400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr12:26037600-26039000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:26037800-26039000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
49	chr12:26037800-26039400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr12:26037800-26040800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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