Variant report

Variant	nsv976593
Chromosome Location	chr12:32100453-32102294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:32101641-32102176	HepG2	liver:	n/a	n/a
2	BHLHE40	chr12:32101793-32102090	HepG2	liver:	n/a	n/a
3	BHLHE40	chr12:32101809-32102085	HepG2	liver:	n/a	n/a
4	BHLHE40	chr12:32101902-32101921	K562	blood:	n/a	n/a
5	CBX3	chr12:32101739-32102113	K562	blood:	n/a	n/a
6	CBX3	chr12:32100586-32101218	K562	blood:	n/a	n/a
7	EP300	chr12:32101670-32102084	HepG2	liver:	n/a	n/a
8	EP300	chr12:32101725-32102029	HepG2	liver:	n/a	n/a
9	EP300	chr12:32101677-32102189	HepG2	liver:	n/a	n/a
10	FOSL2	chr12:32101488-32102132	HepG2	liver:	n/a	n/a
11	FOSL2	chr12:32101775-32102162	HepG2	liver:	n/a	n/a
12	FOXA1	chr12:32101609-32102195	HepG2	liver:	n/a	n/a
13	FOXA1	chr12:32101683-32102091	HepG2	liver:	n/a	n/a
14	FOXA1	chr12:32101683-32102108	HepG2	liver:	n/a	n/a
15	FOXA1	chr12:32101673-32102055	HepG2	liver:	n/a	n/a
16	FOXA2	chr12:32101767-32102045	HepG2	liver:	n/a	n/a
17	GATA2	chr12:32100977-32101219	SH-SY5Y	brain:	n/a	n/a
18	GATA3	chr12:32100965-32101214	MCF-7	breast:	n/a	chr12:32101049-32101057
19	HDAC2	chr12:32101807-32102050	HepG2	liver:	n/a	n/a
20	HNF4A	chr12:32101731-32102159	HepG2	liver:	n/a	chr12:32101881-32101896 chr12:32101931-32101946
21	HNF4A	chr12:32101675-32102135	HepG2	liver:	n/a	chr12:32101881-32101896 chr12:32101931-32101946
22	HNF4A	chr12:32101759-32102186	HepG2	liver:	n/a	chr12:32101881-32101896 chr12:32101931-32101946
23	HNF4G	chr12:32101691-32102090	HepG2	liver:	n/a	chr12:32101882-32101897
24	HNF4G	chr12:32101652-32102194	HepG2	liver:	n/a	chr12:32101882-32101897
25	JUN	chr12:32101697-32101766	HepG2	liver:	n/a	chr12:32101711-32101724
26	JUND	chr12:32101511-32102119	HepG2	liver:	n/a	n/a
27	JUND	chr12:32101678-32101889	HepG2	liver:	n/a	n/a
28	KAP1	chr12:32100880-32101500	K562	blood:	n/a	n/a
29	MAFF	chr12:32101800-32102047	HepG2	liver:	n/a	n/a
30	MAFK	chr12:32101571-32101649	HepG2	liver:	n/a	n/a
31	MAX	chr12:32101814-32102089	K562	blood:	n/a	n/a
32	MAX	chr12:32101902-32101922	HepG2	liver:	n/a	n/a
33	MBD4	chr12:32101697-32101990	HepG2	liver:	n/a	n/a
34	MYBL2	chr12:32101587-32102230	HepG2	liver:	n/a	n/a
35	MYBL2	chr12:32101688-32102148	HepG2	liver:	n/a	n/a
36	NFIC	chr12:32101702-32102082	HepG2	liver:	n/a	n/a
37	NFIC	chr12:32101657-32102096	HepG2	liver:	n/a	n/a
38	NR2F2	chr12:32101742-32102085	HepG2	liver:	n/a	n/a
39	NR2F2	chr12:32101726-32102094	HepG2	liver:	n/a	n/a
40	RAD21	chr12:32101916-32102011	HepG2	liver:	n/a	n/a
41	RCOR1	chr12:32101817-32102042	HepG2	liver:	n/a	n/a
42	REST	chr12:32101760-32102087	HepG2	liver:	n/a	n/a
43	RXRA	chr12:32101550-32102195	HepG2	liver:	n/a	n/a
44	RXRA	chr12:32101720-32102153	HepG2	liver:	n/a	n/a
45	SMC3	chr12:32101905-32101908	HepG2	liver:	n/a	n/a
46	SP1	chr12:32101626-32102218	HepG2	liver:	n/a	n/a
47	TCF12	chr12:32101703-32102116	HepG2	liver:	n/a	n/a
48	TCF7L2	chr12:32101809-32102330	HepG2	liver:	n/a	n/a
49	TEAD4	chr12:32101637-32102131	HepG2	liver:	n/a	n/a
50	USF1	chr12:32101793-32102073	HepG2	liver:	n/a	chr12:32101956-32101967

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf35-5	chr12:32101268-32101761	NONHSAT027591

Variant related genes	Relation type
ENSG00000242314	TF binding region
ENSG00000256987	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536896976	chr12:32100453-32100454	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184172410	chr12:32100460-32100461	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11051695	chr12:32100474-32100475	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs544202873	chr12:32100493-32100494	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564090618	chr12:32100511-32100512	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199779236	chr12:32100521-32100522	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188873025	chr12:32100533-32100534	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560249219	chr12:32100534-32100535	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115049409	chr12:32100546-32100547	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117810835	chr12:32100557-32100558	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs57651525	chr12:32100585-32100586	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs193211048	chr12:32100609-32100610	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs551334256	chr12:32100644-32100645	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs566367617	chr12:32100647-32100648	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs145368962	chr12:32100678-32100679	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs534174935	chr12:32100696-32100697	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs370447390	chr12:32100713-32100714	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs184535964	chr12:32100750-32100751	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs567989074	chr12:32100751-32100752	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs536428197	chr12:32100766-32100767	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs556742255	chr12:32100800-32100801	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs77258473	chr12:32100850-32100851	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs575379983	chr12:32100900-32100901	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs148793792	chr12:32100924-32100925	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs142440601	chr12:32100925-32100926	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs549688378	chr12:32100993-32100994	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs147957023	chr12:32101106-32101107	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs540272872	chr12:32101162-32101163	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs560179794	chr12:32101176-32101177	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs141499984	chr12:32101210-32101211	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs542437573	chr12:32101225-32101226	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs376075756	chr12:32101235-32101236	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs562365507	chr12:32101267-32101268	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs531658909	chr12:32101275-32101276	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs111492290	chr12:32101303-32101304	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs147046405	chr12:32101304-32101305	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs147692359	chr12:32101315-32101316	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs565133898	chr12:32101322-32101323	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs187503279	chr12:32101323-32101324	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs532642687	chr12:32101366-32101367	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs1666245	chr12:32101446-32101447	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs570276245	chr12:32101497-32101498	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs141005283	chr12:32101546-32101547	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs557885716	chr12:32101557-32101558	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs374448778	chr12:32101593-32101594	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs1666244	chr12:32101671-32101672	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs566179493	chr12:32101716-32101717	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs553759741	chr12:32101721-32101722	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs573825941	chr12:32101772-32101773	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35502772	chr12:32101821-32101822	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Ewing''s sarcoma	17952124	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
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32080600-32111400	Weak transcription	Aorta	Aorta
2	chr12:32093000-32111200	Weak transcription	Psoas Muscle	Psoas
3	chr12:32099400-32111200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:32100200-32105400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:32100400-32101800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:32100400-32101800	Enhancers	Placenta	Placenta
7	chr12:32100400-32101800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr12:32100400-32102000	ZNF genes & repeats	Liver	Liver
9	chr12:32101000-32101400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr12:32101000-32101400	ZNF genes & repeats	Left Ventricle	heart
11	chr12:32101000-32101600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:32101000-32102800	Enhancers	HepG2	liver
13	chr12:32101200-32101400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
14	chr12:32101200-32101400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr12:32101200-32102000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:32101400-32108000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:32101400-32110600	Weak transcription	Left Ventricle	heart
18	chr12:32101400-32111000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:32101600-32107200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:32101800-32102000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr12:32102000-32102400	Weak transcription	Liver	Liver
22	chr12:32102000-32102800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:32102200-32103000	Enhancers	Fetal Intestine Large	intestine
24	chr12:32102200-32103600	ZNF genes & repeats	Fetal Intestine Small	intestine

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