Variant report

Variant	nsv973097
Chromosome Location	chr12:83544133-83545969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:83543919-83544914	K562	blood:	n/a	n/a
2	BCLAF1	chr12:83544132-83544573	K562	blood:	n/a	n/a
3	BCLAF1	chr12:83544125-83544611	K562	blood:	n/a	n/a
4	CCNT2	chr12:83544274-83544770	K562	blood:	n/a	n/a
5	CEBPB	chr12:83544426-83544965	K562	blood:	n/a	n/a
6	CEBPB	chr12:83544479-83544860	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr12:83544488-83544736	K562	blood:	n/a	n/a
8	CEBPB	chr12:83544446-83544865	K562	blood:	n/a	n/a
9	CEBPD	chr12:83544205-83545050	K562	blood:	n/a	n/a
10	CEBPD	chr12:83544238-83545032	K562	blood:	n/a	n/a
11	CTCF	chr12:83544941-83544961	Medullo	brain:	n/a	n/a
12	CTCF	chr12:83544849-83545175	K562	blood:	n/a	n/a
13	CTCF	chr12:83545712-83545799	GM13976	blood:	n/a	n/a
14	CUX1	chr12:83544641-83544877	K562	blood:	n/a	n/a
15	EBF1	chr12:83544554-83544570	GM12878	blood:	n/a	n/a
16	EGR1	chr12:83544299-83544546	K562	blood:	n/a	chr12:83544418-83544440
17	EGR1	chr12:83544263-83544549	K562	blood:	n/a	chr12:83544418-83544440
18	EP300	chr12:83544344-83544626	GM12878	blood:	n/a	n/a
19	EP300	chr12:83544313-83545012	K562	blood:	n/a	n/a
20	EP300	chr12:83544585-83545000	SK-N-SH_RA	brain:	n/a	n/a
21	GATA2	chr12:83544381-83545249	SH-SY5Y	brain:	n/a	n/a
22	GATA2	chr12:83544419-83545000	K562	blood:	n/a	n/a
23	GATA2	chr12:83544550-83544811	K562	blood:	n/a	n/a
24	GATA3	chr12:83544408-83545055	SK-N-SH	brain:	n/a	n/a
25	GATA3	chr12:83544511-83545039	SK-N-SH	brain:	n/a	n/a
26	GATA3	chr12:83544521-83544956	SH-SY5Y	brain:	n/a	n/a
27	GTF2B	chr12:83544411-83544612	K562	blood:	n/a	n/a
28	GTF2F1	chr12:83544399-83544599	K562	blood:	n/a	n/a
29	HEY1	chr12:83544198-83544557	K562	blood:	n/a	n/a
30	HEY1	chr12:83544017-83544554	K562	blood:	n/a	n/a
31	JUND	chr12:83544331-83545000	K562	blood:	n/a	n/a
32	MAFK	chr12:83544718-83544973	HepG2	liver:	n/a	n/a
33	NR2F2	chr12:83544593-83545011	K562	blood:	n/a	n/a
34	PML	chr12:83544017-83545040	K562	blood:	n/a	n/a
35	PML	chr12:83544033-83544649	K562	blood:	n/a	n/a
36	POLR2A	chr12:83544154-83544528	K562	blood:	n/a	n/a
37	POLR2A	chr12:83544071-83544623	K562	blood:	n/a	n/a
38	POLR2A	chr12:83544122-83544602	K562	blood:	n/a	n/a
39	POLR2A	chr12:83544127-83544566	K562	blood:	n/a	n/a
40	POLR2A	chr12:83544053-83544627	K562	blood:	n/a	n/a
41	POLR2A	chr12:83544152-83544613	K562	blood:	n/a	n/a
42	POLR2A	chr12:83544636-83544938	K562	blood:	n/a	n/a
43	RCOR1	chr12:83544248-83545013	K562	blood:	n/a	n/a
44	STAT5A	chr12:83544309-83544951	K562	blood:	n/a	chr12:83544930-83544942 chr12:83544647-83544662
45	TAF7	chr12:83544211-83544657	K562	blood:	n/a	n/a
46	TAF7	chr12:83544312-83544499	K562	blood:	n/a	n/a
47	TAL1	chr12:83543885-83545096	K562	blood:	n/a	n/a
48	TBL1XR1	chr12:83544263-83545075	K562	blood:	n/a	n/a
49	TBP	chr12:83544285-83544699	K562	blood:	n/a	n/a
50	TEAD4	chr12:83544153-83545129	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:83542880..83544504-chr12:83556939..83559437,2	K562	blood:
2	chr12:83542565..83545008-chr12:83566532..83568731,2	K562	blood:
3	chr12:83544204..83547300-chr12:83565294..83568288,4	K562	blood:
4	chr12:83531135..83533652-chr12:83540992..83544898,3	K562	blood:

No data

Variant related genes	Relation type
RPL6P25	TF binding region
ENSG00000258338	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544682616	chr12:83544161-83544162	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs543822793	chr12:83544215-83544216	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542762256	chr12:83544263-83544264	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs561027731	chr12:83544269-83544270	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs144997459	chr12:83544292-83544293	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563408187	chr12:83544299-83544300	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs543379048	chr12:83544310-83544311	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs61929931	chr12:83544327-83544328	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533030393	chr12:83544342-83544343	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs542389755	chr12:83544372-83544373	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs551560312	chr12:83544381-83544382	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs375659279	chr12:83544472-83544473	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs368965208	chr12:83544496-83544497	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs527478477	chr12:83544534-83544535	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs17010672	chr12:83544558-83544559	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs149095610	chr12:83544564-83544565	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs184932131	chr12:83544565-83544566	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs556165640	chr12:83544580-83544581	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs1914518	chr12:83544620-83544621	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549147937	chr12:83544651-83544652	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs116225779	chr12:83544654-83544655	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs189967234	chr12:83544677-83544678	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs11115620	chr12:83544686-83544687	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs542798769	chr12:83544704-83544705	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs554660119	chr12:83544713-83544714	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs560948816	chr12:83544747-83544748	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs530394938	chr12:83544759-83544760	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs77507222	chr12:83544832-83544833	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs543415814	chr12:83544857-83544858	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs377636755	chr12:83544885-83544886	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs577158570	chr12:83544891-83544892	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs371052791	chr12:83544895-83544896	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs1517812	chr12:83544897-83544898	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs560373197	chr12:83544917-83544918	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs527513971	chr12:83544926-83544927	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs181232736	chr12:83544986-83544987	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs187138260	chr12:83544995-83544996	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs113611756	chr12:83545016-83545017	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs571454111	chr12:83545033-83545034	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs571203057	chr12:83545096-83545097	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs191574701	chr12:83545097-83545098	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs141870521	chr12:83545114-83545115	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs145630686	chr12:83545115-83545116	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs566330286	chr12:83545134-83545135	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12307071	chr12:83545139-83545140	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs138245079	chr12:83545140-83545141	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs79360094	chr12:83545173-83545174	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs142849992	chr12:83545188-83545189	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs150651878	chr12:83545203-83545204	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577196345	chr12:83545216-83545217	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83540000-83544800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:83543400-83545000	Enhancers	K562	blood
3	chr12:83543600-83548400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:83543800-83548200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:83544400-83544800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:83544400-83545200	Enhancers	Hela-S3	cervix
7	chr12:83544600-83545200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:83544800-83545000	Enhancers	Right Atrium	heart
9	chr12:83544800-83547400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:83545000-83550400	Weak transcription	K562	blood
11	chr12:83545200-83547200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:83545200-83550400	Weak transcription	Hela-S3	cervix
13	chr12:83545800-83546400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:83545800-83546600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:83545800-83547000	Enhancers	HUES48 Cell Line	embryonic stem cell

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