Variant report

Variant	nsv521398
Chromosome Location	chr12:32148915-32156716
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	chr12:32153228-32153727	K562	blood:	n/a	n/a
2	ATF1	chr12:32153310-32153625	K562	blood:	n/a	n/a
3	ATF3	chr12:32153295-32153579	K562	blood:	n/a	n/a
4	BACH1	chr12:32153330-32153648	K562	blood:	n/a	n/a
5	BCLAF1	chr12:32153236-32153777	K562	blood:	n/a	n/a
6	BHLHE40	chr12:32153296-32153661	K562	blood:	n/a	n/a
7	CBX3	chr12:32153210-32154316	K562	blood:	n/a	n/a
8	CBX3	chr12:32153264-32154068	K562	blood:	n/a	n/a
9	CCNT2	chr12:32153262-32153638	K562	blood:	n/a	chr12:32153450-32153470
10	CEBPB	chr12:32153284-32153637	K562	blood:	n/a	n/a
11	CEBPD	chr12:32153138-32153763	K562	blood:	n/a	n/a
12	CEBPD	chr12:32153288-32153778	K562	blood:	n/a	n/a
13	CHD2	chr12:32155978-32156067	K562	blood:	n/a	n/a
14	CREB1	chr12:32153326-32153795	K562	blood:	n/a	n/a
15	CTCF	chr12:32153351-32153561	K562	blood:	n/a	n/a
16	CUX1	chr12:32153354-32153593	K562	blood:	n/a	n/a
17	EP300	chr12:32156209-32156216	HepG2	liver:	n/a	n/a
18	EP300	chr12:32153451-32153523	GM12878	blood:	n/a	n/a
19	EP300	chr12:32153259-32153834	K562	blood:	n/a	n/a
20	EP300	chr12:32153348-32153641	K562	blood:	n/a	n/a
21	FOS	chr12:32152742-32152894	MCF10A-Er-Src	breast:	n/a	n/a
22	FOSL1	chr12:32153271-32153579	K562	blood:	n/a	chr12:32153474-32153484
23	FOSL1	chr12:32153340-32153690	K562	blood:	n/a	chr12:32153474-32153484
24	GABPA	chr12:32153305-32153614	K562	blood:	n/a	n/a
25	GATA1	chr12:32153171-32154071	PBDE	blood:	n/a	chr12:32153452-32153459 chr12:32153445-32153466 chr12:32153452-32153461 chr12:32153449-32153459 chr12:32153453-32153470 chr12:32153452-32153459 chr12:32153450-32153462 chr12:32153452-32153459 chr12:32153452-32153461 chr12:32153451-32153461
26	GATA1	chr12:32153253-32154301	K562	blood:	n/a	chr12:32153452-32153459 chr12:32153445-32153466 chr12:32153452-32153461 chr12:32153449-32153459 chr12:32153453-32153470 chr12:32153452-32153459 chr12:32153450-32153462 chr12:32153452-32153459 chr12:32153452-32153461 chr12:32153451-32153461
27	GATA1	chr12:32153367-32153645	PBDEFetal	blood:	n/a	chr12:32153452-32153459 chr12:32153445-32153466 chr12:32153452-32153461 chr12:32153449-32153459 chr12:32153453-32153470 chr12:32153452-32153459 chr12:32153450-32153462 chr12:32153452-32153459 chr12:32153452-32153461 chr12:32153451-32153461
28	GATA2	chr12:32153202-32153735	K562	blood:	n/a	chr12:32153452-32153459 chr12:32153445-32153466 chr12:32153452-32153461 chr12:32153449-32153459 chr12:32153453-32153470 chr12:32153452-32153459 chr12:32153450-32153462 chr12:32153452-32153459 chr12:32153452-32153461 chr12:32153451-32153461
29	GATA2	chr12:32153288-32153645	K562	blood:	n/a	chr12:32153452-32153459 chr12:32153445-32153466 chr12:32153452-32153461 chr12:32153449-32153459 chr12:32153453-32153470 chr12:32153452-32153459 chr12:32153450-32153462 chr12:32153452-32153459 chr12:32153452-32153461 chr12:32153451-32153461
30	GATA2	chr12:32153274-32153711	K562	blood:	n/a	chr12:32153452-32153459 chr12:32153445-32153466 chr12:32153452-32153461 chr12:32153449-32153459 chr12:32153453-32153470 chr12:32153452-32153459 chr12:32153450-32153462 chr12:32153452-32153459 chr12:32153452-32153461 chr12:32153451-32153461
31	HDAC2	chr12:32153294-32153569	K562	blood:	n/a	chr12:32153451-32153460
32	HMGN3	chr12:32153348-32153789	K562	blood:	n/a	chr12:32153473-32153482 chr12:32153453-32153460
33	IRF1	chr12:32153312-32153657	K562	blood:	n/a	n/a
34	IRF1	chr12:32153303-32153693	K562	blood:	n/a	n/a
35	IRF1	chr12:32153310-32153663	K562	blood:	n/a	n/a
36	JUN	chr12:32153295-32153721	K562	blood:	n/a	chr12:32153474-32153484
37	JUN	chr12:32153296-32153671	K562	blood:	n/a	chr12:32153474-32153484
38	JUN	chr12:32153256-32154156	K562	blood:	n/a	chr12:32153474-32153484
39	JUN	chr12:32153287-32153829	K562	blood:	n/a	chr12:32153474-32153484
40	JUN	chr12:32153297-32153640	K562	blood:	n/a	chr12:32153474-32153484
41	JUND	chr12:32156091-32156105	K562	blood:	n/a	n/a
42	JUND	chr12:32152682-32152909	K562	blood:	n/a	n/a
43	JUND	chr12:32153269-32153718	K562	blood:	n/a	chr12:32153474-32153484
44	KAP1	chr12:32153540-32154128	K562	blood:	n/a	n/a
45	MAFF	chr12:32153368-32153586	HepG2	liver:	n/a	chr12:32153473-32153491 chr12:32153472-32153486
46	MAFF	chr12:32153291-32153691	K562	blood:	n/a	chr12:32153473-32153491 chr12:32153472-32153486
47	MAFK	chr12:32153380-32153535	HepG2	liver:	n/a	chr12:32153471-32153487 chr12:32153475-32153485 chr12:32153469-32153489 chr12:32153472-32153486 chr12:32153474-32153489 chr12:32153476-32153485
48	MAFK	chr12:32153358-32153575	HepG2	liver:	n/a	chr12:32153471-32153487 chr12:32153475-32153485 chr12:32153469-32153489 chr12:32153472-32153486 chr12:32153474-32153489 chr12:32153476-32153485
49	MAFK	chr12:32153307-32153668	K562	blood:	n/a	chr12:32153471-32153487 chr12:32153475-32153485 chr12:32153469-32153489 chr12:32153472-32153486 chr12:32153474-32153489 chr12:32153476-32153485
50	MAX	chr12:32153312-32153553	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32146985..32148655-chr12:32151850..32154209,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf35-6	chr12:32155165-32157256	NONHSAT027601
2	lnc-C12orf35-4	chr12:32154358-32155125	NONHSAT027600
3	lnc-C12orf35-3	chr12:32152004-32152447	expReg_chr12_2826_+

Variant related genes	Relation type
ENSG00000257094	TF binding region

Extended variants
information (count: 356 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10844087	chr12:32148915-32148916	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571126226	chr12:32148974-32148975	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs202050281	chr12:32148980-32148981	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558823775	chr12:32148989-32148990	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533784076	chr12:32148990-32148991	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547330744	chr12:32149014-32149015	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189890956	chr12:32149034-32149035	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12809418	chr12:32149069-32149070	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10771898	chr12:32149083-32149084	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576340604	chr12:32149091-32149092	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553156474	chr12:32149100-32149101	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574905759	chr12:32149174-32149175	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372455529	chr12:32149227-32149228	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200011810	chr12:32149270-32149271	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541818611	chr12:32149285-32149286	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138966102	chr12:32149328-32149329	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141930598	chr12:32149436-32149437	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs572305393	chr12:32149445-32149446	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs541425350	chr12:32149473-32149474	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs556976802	chr12:32149478-32149479	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs561167242	chr12:32149540-32149541	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs377570253	chr12:32149576-32149577	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs574770511	chr12:32149598-32149599	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs111325285	chr12:32149630-32149631	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs7306061	chr12:32149659-32149660	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550958183	chr12:32149672-32149673	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs532587892	chr12:32149732-32149733	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs551141013	chr12:32149738-32149739	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs11051723	chr12:32149740-32149741	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs146315581	chr12:32149744-32149745	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs76329283	chr12:32149745-32149746	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs181253647	chr12:32149781-32149782	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs142824471	chr12:32149784-32149785	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs12426191	chr12:32149824-32149825	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs373131783	chr12:32149852-32149853	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148655795	chr12:32149861-32149862	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs183967316	chr12:32149873-32149874	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs188205608	chr12:32149880-32149881	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs534834558	chr12:32149901-32149902	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs142186080	chr12:32149953-32149954	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs112387940	chr12:32149963-32149964	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs139225508	chr12:32149966-32149967	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs557232306	chr12:32150005-32150006	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs576982120	chr12:32150061-32150062	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs10844088	chr12:32150101-32150102	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs111536901	chr12:32150122-32150123	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs527360797	chr12:32150156-32150157	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs182033923	chr12:32150190-32150191	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs114160004	chr12:32150214-32150215	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs187469078	chr12:32150218-32150219	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32114000-32150800	Weak transcription	NHLF	lung
2	chr12:32128800-32150600	Weak transcription	Hela-S3	cervix
3	chr12:32130400-32150200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:32134800-32149400	Weak transcription	Esophagus	oesophagus
5	chr12:32134800-32149800	Weak transcription	Pancreas	Pancrea
6	chr12:32134800-32151000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:32134800-32155400	Weak transcription	NHDF-Ad	bronchial
8	chr12:32135000-32149200	Weak transcription	Brain Substantia Nigra	brain
9	chr12:32135000-32149800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:32135000-32149800	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:32135000-32150000	Weak transcription	Right Ventricle	heart
12	chr12:32135000-32150200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:32135000-32150800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:32135000-32156000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:32135000-32156400	Weak transcription	Gastric	stomach
16	chr12:32136000-32150000	Weak transcription	Aorta	Aorta
17	chr12:32136000-32150600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:32136000-32155000	Weak transcription	HSMMtube	muscle
19	chr12:32136200-32150600	Weak transcription	Psoas Muscle	Psoas
20	chr12:32136200-32155400	Weak transcription	Osteobl	bone
21	chr12:32136400-32151000	Weak transcription	NH-A	brain
22	chr12:32136600-32149600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:32136600-32150800	Weak transcription	HSMM	muscle
24	chr12:32137200-32158600	Weak transcription	HUVEC	blood vessel
25	chr12:32137600-32151400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr12:32138400-32149200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:32139200-32153800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:32139200-32154400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:32139800-32153800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:32139800-32154200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:32140200-32156200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:32140800-32156600	Strong transcription	Thymus	Thymus
33	chr12:32141400-32154200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:32141400-32154800	Strong transcription	Fetal Intestine Large	intestine
35	chr12:32141400-32154800	Strong transcription	Fetal Intestine Small	intestine
36	chr12:32141400-32156200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:32141800-32150400	Weak transcription	Fetal Lung	lung
38	chr12:32141800-32154200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:32141800-32155000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:32142200-32155800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:32142600-32155000	Strong transcription	Liver	Liver
42	chr12:32143000-32154800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr12:32143000-32154800	Strong transcription	Adipose Nuclei	Adipose
44	chr12:32143200-32154400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:32143200-32154400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr12:32143200-32156200	Strong transcription	Primary T cells from cord blood	blood
47	chr12:32143400-32149000	Weak transcription	Fetal Brain Female	brain
48	chr12:32143400-32152800	Strong transcription	Brain Germinal Matrix	brain
49	chr12:32143800-32149200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:32143800-32152600	Weak transcription	HMEC	breast

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