Variant report

Variant	nsv976595
Chromosome Location	chr12:33010536-33021896
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	chr12:33018464-33018796	HepG2	liver:	n/a	n/a
2	ATF1	chr12:33014709-33014760	K562	blood:	n/a	n/a
3	BRCA1	chr12:33019723-33019749	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:33018459-33018655	HepG2	liver:	n/a	chr12:33018570-33018581
5	CEBPB	chr12:33018395-33018732	HepG2	liver:	n/a	chr12:33018570-33018581
6	CEBPB	chr12:33020975-33021001	K562	blood:	n/a	n/a
7	CEBPB	chr12:33014741-33014848	K562	blood:	n/a	n/a
8	CEBPB	chr12:33018467-33018647	HepG2	liver:	n/a	chr12:33018570-33018581
9	CTCF	chr12:33019364-33019392	GM20000	blood:	n/a	n/a
10	EP300	chr12:33018456-33018728	HepG2	liver:	n/a	n/a
11	EP300	chr12:33018515-33018580	HepG2	liver:	n/a	n/a
12	EP300	chr12:33014631-33014916	K562	blood:	n/a	n/a
13	FOXA1	chr12:33018376-33018765	HepG2	liver:	n/a	n/a
14	FOXA1	chr12:33018356-33018664	HepG2	liver:	n/a	n/a
15	FOXA1	chr12:33016107-33016344	HepG2	liver:	n/a	n/a
16	FOXA1	chr12:33018384-33018810	HepG2	liver:	n/a	n/a
17	FOXA1	chr12:33018463-33018769	HepG2	liver:	n/a	n/a
18	FOXA2	chr12:33018503-33018792	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:33018358-33018455	HepG2	liver:	n/a	n/a
20	POLR2A	chr12:33020044-33020206	HepG2	liver:	n/a	n/a
21	POLR2A	chr12:33014333-33014533	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr12:33017602-33017802	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr12:33016181-33016381	MCF10A-Er-Src	breast:	n/a	n/a
24	RCOR1	chr12:33018576-33018595	HepG2	liver:	n/a	n/a
25	RCOR1	chr12:33014595-33014861	K562	blood:	n/a	n/a
26	REST	chr12:33018472-33018703	HepG2	liver:	n/a	n/a
27	RXRA	chr12:33016072-33016350	HepG2	liver:	n/a	n/a
28	TEAD4	chr12:33018285-33018846	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNM1L-5	chr12:33016052-33016367	NONHSAT027633

Variant related genes	Relation type
ENSG00000244743	TF binding region

Extended variants
information (count: 425 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:425 , 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	rs368093121	chr12:33010639-33010640	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528652482	chr12:33010706-33010707	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551472772	chr12:33010719-33010720	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547526305	chr12:33010732-33010733	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571712810	chr12:33010738-33010739	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527868525	chr12:33010766-33010767	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548058780	chr12:33010770-33010771	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567952957	chr12:33010836-33010837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76774152	chr12:33010856-33010857	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12099507	chr12:33010899-33010900	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554293978	chr12:33010908-33010909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535846689	chr12:33010957-33010958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569614837	chr12:33010988-33010989	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113272738	chr12:33011014-33011015	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147960743	chr12:33011020-33011021	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200053982	chr12:33011022-33011023	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370633467	chr12:33011024-33011025	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374336953	chr12:33011026-33011027	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367913885	chr12:33011028-33011029	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1020666	chr12:33011045-33011046	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34727670	chr12:33011049-33011050	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1020667	chr12:33011051-33011052	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34480218	chr12:33011052-33011053	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1020668	chr12:33011059-33011060	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1020669	chr12:33011061-33011062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61139163	chr12:33011069-33011070	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3044534	chr12:33011073-33011074	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561021901	chr12:33011084-33011085	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370398045	chr12:33011087-33011088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189181479	chr12:33011107-33011108	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554942980	chr12:33011167-33011168	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192093147	chr12:33011202-33011203	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572477349	chr12:33011216-33011217	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540033672	chr12:33011254-33011255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184315176	chr12:33011342-33011343	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573558897	chr12:33011345-33011346	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2389114	chr12:33011399-33011400	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144080652	chr12:33011408-33011409	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79688317	chr12:33011409-33011410	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370452560	chr12:33011420-33011421	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146524189	chr12:33011424-33011425	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188659215	chr12:33011427-33011428	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527436921	chr12:33011452-33011453	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141068688	chr12:33011455-33011456	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79777031	chr12:33011583-33011584	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74556521	chr12:33011585-33011586	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547971989	chr12:33011656-33011657	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560244209	chr12:33011677-33011678	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565461778	chr12:33011680-33011681	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567865464	chr12:33011687-33011688	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Hodgkin''s lymphoma	17606441	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
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21272361	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32941800-33033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:32943800-33026800	Weak transcription	Fetal Kidney	kidney
3	chr12:32972000-33029000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:32974200-33030400	Weak transcription	Right Ventricle	heart
5	chr12:32975800-33020000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:32993000-33030400	Weak transcription	Colonic Mucosa	Colon
7	chr12:32993400-33013600	Weak transcription	Pancreas	Pancrea
8	chr12:32993800-33018000	Weak transcription	Fetal Stomach	stomach
9	chr12:32997800-33044400	Weak transcription	Hela-S3	cervix
10	chr12:32997800-33046000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:33000200-33012400	Weak transcription	Right Atrium	heart
12	chr12:33000400-33020000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:33003200-33019400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:33003200-33022800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:33003800-33012600	Weak transcription	HMEC	breast
16	chr12:33003800-33030400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:33004000-33011400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:33004000-33012400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:33004000-33012400	Weak transcription	NHEK	skin
20	chr12:33004000-33015000	Weak transcription	Fetal Intestine Small	intestine
21	chr12:33004000-33017400	Weak transcription	Placenta	Placenta
22	chr12:33004000-33020000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:33004000-33020000	Weak transcription	HepG2	liver
24	chr12:33004000-33020200	Weak transcription	Fetal Intestine Large	intestine
25	chr12:33004000-33030400	Weak transcription	Gastric	stomach
26	chr12:33004200-33011200	Weak transcription	Liver	Liver
27	chr12:33004200-33011600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:33004200-33015600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:33004200-33028800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:33004400-33019600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:33006800-33012400	Weak transcription	Left Ventricle	heart
32	chr12:33007800-33016200	Weak transcription	Stomach Mucosa	stomach
33	chr12:33008000-33011600	Enhancers	Fetal Heart	heart
34	chr12:33008200-33019600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:33008200-33019800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:33008600-33012400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:33010200-33011800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:33010200-33011800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:33010400-33012400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:33010400-33013200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:33010400-33019200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:33011200-33012600	Enhancers	Liver	Liver
43	chr12:33011400-33012000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr12:33011600-33011800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr12:33011600-33012600	Weak transcription	Fetal Heart	heart
46	chr12:33011800-33012000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr12:33011800-33012000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr12:33011800-33012400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:33011800-33012600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:33011800-33021800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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