Variant report

Variant	nsv521839
Chromosome Location	chr12:72827033-72839822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:72828647-72828702	LNCaP	prostate:	n/a	n/a
2	E2F4	chr12:72839054-72839060	MCF10A-Er-Src	breast:	n/a	n/a
3	FOXP2	chr12:72837681-72837942	SK-N-MC	brain:	n/a	n/a
4	GTF2F1	chr12:72838118-72838267	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUND	chr12:72834539-72834797	HepG2	liver:	n/a	chr12:72834732-72834740 chr12:72834650-72834659 chr12:72834732-72834739
6	MAFF	chr12:72828709-72829157	HepG2	liver:	n/a	chr12:72828981-72828999 chr12:72828954-72828972
7	MAFF	chr12:72828809-72829144	K562	blood:	n/a	chr12:72828981-72828999 chr12:72828954-72828972
8	MAFK	chr12:72828780-72829153	HepG2	liver:	n/a	chr12:72828956-72828971
9	MAFK	chr12:72828782-72829154	IMR90	lung:	n/a	chr12:72828956-72828971
10	MAFK	chr12:72828861-72829127	K562	blood:	n/a	chr12:72828956-72828971
11	MAFK	chr12:72828833-72829117	Hela-S3	cervix:	n/a	chr12:72828956-72828971
12	MAFK	chr12:72828821-72829039	H1-hESC	embryonic stem cell:	n/a	chr12:72828956-72828971
13	MAFK	chr12:72828779-72829144	HepG2	liver:	n/a	chr12:72828956-72828971
14	POLR2A	chr12:72830326-72830388	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr12:72837489-72838291	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr12:72835163-72835186	GM12878	blood:	n/a	n/a
17	RAD21	chr12:72838593-72838594	H1-hESC	embryonic stem cell:	n/a	n/a
18	STAT3	chr12:72830747-72830973	MCF10A-Er-Src	breast:	n/a	chr12:72830821-72830829
19	STAT3	chr12:72832953-72833153	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr12:72839030-72839039	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:72836959-72837009	HCPEpiC	choroid plexus:	n/a
2	chr12:72836959-72837009	ovcar-3	ovarian:	n/a
3	chr12:72836959-72837009	HRCEpiC	kidney:	n/a
4	chr12:72836959-72837009	SAEC	small airway:	n/a
5	chr12:72836959-72837009	H1-hESC	embryonic stem cell:	embryo
6	chr12:72836959-72837009	Hepatocyte	liver:	n/a
7	chr12:72836959-72837009	NHDF-neo	bronchial:	n/a
8	chr12:72836959-72837009	HNPCEpiC	eye:	n/a
9	chr12:72836959-72837009	PrEC	prostate:	n/a
10	chr12:72836959-72837009	NB4	blood:	n/a
11	chr12:72836959-72837009	NH-A	brain:	n/a
12	chr12:72836959-72837009	ProgFib	skin:	n/a
13	chr12:72836959-72837009	GM19239	blood:	n/a
14	chr12:72836959-72837009	HRPEpiC	eye:	n/a
15	chr12:72836959-72837009	GM12891	blood:	n/a
16	chr12:72836959-72837009	ECC-1	luminal epithelium:	n/a
17	chr12:72836959-72837009	Hela-S3	cervix:	n/a
18	chr12:72836959-72837009	HIPEpiC	eye:	n/a
19	chr12:72836959-72837009	AG09309	skin:	n/a
20	chr12:72836959-72837009	NHBE	bronchial:	n/a
21	chr12:72836959-72837009	GM12892	blood:	n/a
22	chr12:72836959-72837009	HPAEpiC	pulmonary alveolar:	n/a
23	chr12:72836959-72837009	HEEpiC	esophagus:	n/a
24	chr12:72836959-72837009	SK-N-SH_RA	brain:	n/a
25	chr12:72836959-72837009	SK-N-SH	brain:	n/a
26	chr12:72836959-72837009	HRE	kidney:	n/a
27	chr12:72836959-72837009	SK-N-MC	brain:	n/a
28	chr12:72836959-72837009	PFSK-1	brain:	n/a
29	chr12:72836959-72837009	BJ	skin:	n/a
30	chr12:72836959-72837009	AoSMC	blood vessel:	n/a
31	chr12:72836959-72837009	PANC-1	pancreas:	n/a
32	chr12:72836959-72837009	CMK	blood:	n/a
33	chr12:72836959-72837009	AG04449	skin:	fetal
34	chr12:72836959-72837009	K562	blood:	n/a
35	chr12:72836959-72837009	IMR90	lung:	fetal
36	chr12:72836959-72837009	A549	lung:	n/a
37	chr12:72836959-72837009	HAEpiC	amniotic membrane:	n/a
38	chr12:72836959-72837009	HL-60	blood:	n/a
39	chr12:72836959-72837009	HCT-116	colon:	n/a
40	chr12:72836959-72837009	GM06990	blood:	n/a
41	chr12:72836959-72837009	U87	brain:	n/a
42	chr12:72836959-72837009	HepG2	liver:	n/a
43	chr12:72836959-72837009	AG04450	lung:	fetal
44	chr12:72836959-72837009	HEK293	kidney:	embryo
45	chr12:72836959-72837009	HMEC	breast:	n/a
46	chr12:72836959-72837009	HCM	heart:	n/a
47	chr12:72836959-72837009	T-47D	breast:	n/a
48	chr12:72836959-72837009	HCF	heart:	n/a
49	chr12:72836959-72837009	GM12878	blood:	n/a
50	chr12:72836959-72837009	LNCaP	prostate:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:72831510..72833718-chr12:72835329..72838097,2	K562	blood:
2	chr12:72831510..72833718-chr12:72835329..72838097,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257287	TF binding region
ENSG00000257287	CpG island

Extended variants
information (count: 412 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12228341	chr12:72827033-72827034	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372138297	chr12:72827040-72827041	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs546915088	chr12:72827082-72827083	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs565221477	chr12:72827123-72827124	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs192940391	chr12:72827128-72827129	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs550948609	chr12:72827154-72827155	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs376433338	chr12:72827172-72827173	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs536758188	chr12:72827189-72827190	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs73344423	chr12:72827245-72827246	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536947765	chr12:72827246-72827247	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs557151107	chr12:72827275-72827276	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577147452	chr12:72827278-72827279	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs539129679	chr12:72827286-72827287	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs57594657	chr12:72827313-72827314	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs10879428	chr12:72827314-72827315	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558927517	chr12:72827484-72827485	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs145246372	chr12:72827485-72827486	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs57437068	chr12:72827487-72827488	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs577201412	chr12:72827500-72827501	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs528101837	chr12:72827526-72827527	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs35623228	chr12:72827527-72827528	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs397947612	chr12:72827540-72827541	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs368192854	chr12:72827552-72827553	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs570856859	chr12:72827581-72827582	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs556130408	chr12:72827725-72827726	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574312518	chr12:72827726-72827727	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs541927000	chr12:72827728-72827729	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs553427641	chr12:72827734-72827735	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs573132955	chr12:72827759-72827760	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs540415047	chr12:72827767-72827768	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs565282251	chr12:72827839-72827840	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs142193935	chr12:72827840-72827841	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs541390641	chr12:72827903-72827904	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs544537557	chr12:72827907-72827908	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs562915870	chr12:72827911-72827912	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs1845370	chr12:72827919-72827920	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139024425	chr12:72827958-72827959	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs543749390	chr12:72827970-72827971	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs566956611	chr12:72827977-72827978	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs527524011	chr12:72827979-72827980	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs552398890	chr12:72827993-72827994	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs570615927	chr12:72828019-72828020	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs182909115	chr12:72828021-72828022	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs188760535	chr12:72828068-72828069	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs568071990	chr12:72828162-72828163	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs34254660	chr12:72828168-72828169	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs537174941	chr12:72828169-72828170	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs192141480	chr12:72828239-72828240	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs145073700	chr12:72828255-72828256	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs571802716	chr12:72828269-72828270	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	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	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	20164920	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72819200-72830800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:72825800-72827200	Active TSS	Colonic Mucosa	Colon
3	chr12:72826000-72827400	Active TSS	Duodenum Mucosa	Duodenum
4	chr12:72826000-72827400	Active TSS	Fetal Intestine Small	intestine
5	chr12:72826000-72827800	Active TSS	Fetal Intestine Large	intestine
6	chr12:72826000-72828600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr12:72826400-72827600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr12:72827000-72827200	Active TSS	Pancreas	Pancrea
9	chr12:72827200-72827400	Flanking Active TSS	Pancreas	Pancrea
10	chr12:72827200-72827800	Enhancers	Adipose Nuclei	Adipose
11	chr12:72827200-72827800	Enhancers	Colonic Mucosa	Colon
12	chr12:72827400-72827600	Active TSS	Pancreas	Pancrea
13	chr12:72827400-72827800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:72827400-72827800	Enhancers	Duodenum Mucosa	Duodenum
15	chr12:72827400-72827800	Enhancers	Fetal Intestine Small	intestine
16	chr12:72827600-72827800	Flanking Active TSS	Pancreas	Pancrea
17	chr12:72827600-72827800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr12:72827600-72829400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:72827800-72828000	Active TSS	Pancreas	Pancrea
20	chr12:72827800-72828600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:72827800-72828600	Weak transcription	Fetal Intestine Small	intestine
22	chr12:72827800-72829000	Enhancers	Fetal Intestine Large	intestine
23	chr12:72828600-72828800	Enhancers	Duodenum Mucosa	Duodenum
24	chr12:72828600-72829000	Enhancers	Fetal Intestine Small	intestine
25	chr12:72829000-72830000	Weak transcription	Fetal Intestine Large	intestine
26	chr12:72830200-72830400	Enhancers	Fetal Intestine Large	intestine
27	chr12:72830800-72831200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:72830800-72831200	Enhancers	HMEC	breast
29	chr12:72831200-72847400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:72832600-72833000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
31	chr12:72833000-72833400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:72833400-72834000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr12:72833400-72834600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr12:72833600-72834000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:72833800-72834000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:72833800-72834000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr12:72834000-72834400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:72834000-72836200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:72834200-72834400	Weak transcription	Pancreas	Pancrea
40	chr12:72834200-72836200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:72834400-72834600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr12:72834400-72834600	Enhancers	Pancreas	Pancrea
43	chr12:72834400-72835000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr12:72834600-72835200	Weak transcription	Pancreas	Pancrea
45	chr12:72834600-72836000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:72834600-72836400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr12:72835000-72836800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:72835200-72835400	Enhancers	Pancreas	Pancrea
49	chr12:72835200-72836600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:72835400-72836400	Weak transcription	Pancreas	Pancrea

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