Variant report

Variant	esv3498674
Chromosome Location	chr12:121535832-121542370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr12:121537496-121537848	GM12878	blood:	n/a	n/a
2	BCL11A	chr12:121537435-121537840	GM12878	blood:	n/a	n/a
3	BCL11A	chr12:121537441-121537694	GM12878	blood:	n/a	n/a
4	CBX3	chr12:121537575-121537910	K562	blood:	n/a	n/a
5	EP300	chr12:121537556-121537741	GM12878	blood:	n/a	n/a
6	KAP1	chr12:121537781-121538145	K562	blood:	n/a	n/a
7	MAX	chr12:121540266-121540454	H1-hESC	embryonic stem cell:	n/a	n/a
8	PAX5	chr12:121537557-121537829	GM12878	blood:	n/a	n/a
9	PAX5	chr12:121537552-121537726	GM12878	blood:	n/a	n/a
10	PAX5	chr12:121537491-121537804	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:121536254-121536614	K562	blood:	n/a	n/a
12	POLR2A	chr12:121540068-121540094	K562	blood:	n/a	n/a
13	POLR2A	chr12:121537462-121537697	K562	blood:	n/a	n/a
14	POLR2A	chr12:121539652-121539685	K562	blood:	n/a	n/a
15	POU2F2	chr12:121537351-121537862	GM12878	blood:	n/a	n/a
16	POU2F2	chr12:121537378-121537866	GM12891	blood:	n/a	n/a
17	POU2F2	chr12:121537376-121537821	GM12891	blood:	n/a	n/a
18	RELA	chr12:121537492-121537837	GM12891	blood:	n/a	n/a
19	RUNX3	chr12:121537523-121537826	GM12878	blood:	n/a	n/a
20	RUNX3	chr12:121537514-121537829	GM12878	blood:	n/a	n/a
21	SETDB1	chr12:121537577-121538027	U2OS	brain:	n/a	n/a
22	STAT3	chr12:121537703-121537785	GM12878	blood:	n/a	n/a
23	ZNF143	chr12:121537698-121537815	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121535941-121535991	ECC-1	luminal epithelium:	n/a
2	chr12:121535941-121535991	LNCaP	prostate:	n/a
3	chr12:121535941-121535991	SK-N-MC	brain:	n/a
4	chr12:121535941-121535991	AG10803	skin:	n/a
5	chr12:121535941-121535991	U87	brain:	n/a
6	chr12:121535941-121535991	Caco-2	colon:	n/a
7	chr12:121535941-121535991	BE2_C	brain:	n/a
8	chr12:121535941-121535991	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:121535941-121535991	GM12892	blood:	n/a
10	chr12:121535941-121535991	PrEC	prostate:	n/a
11	chr12:121535941-121535991	MCF10A-Er-Src	breast:	n/a
12	chr12:121535941-121535991	HRPEpiC	eye:	n/a
13	chr12:121535941-121535991	HCF	heart:	n/a
14	chr12:121535941-121535991	CMK	blood:	n/a
15	chr12:121535941-121535991	HIPEpiC	eye:	n/a
16	chr12:121535941-121535991	GM12891	blood:	n/a
17	chr12:121535941-121535991	NHDF-neo	bronchial:	n/a
18	chr12:121535941-121535991	GM06990	blood:	n/a
19	chr12:121535941-121535991	HCM	heart:	n/a
20	chr12:121535941-121535991	HUVEC	blood vessel:	n/a
21	chr12:121535941-121535991	NHBE	bronchial:	n/a
22	chr12:121535941-121535991	Hela-S3	cervix:	n/a
23	chr12:121535941-121535991	HMEC	breast:	n/a
24	chr12:121535941-121535991	A549	lung:	n/a
25	chr12:121535941-121535991	AG04449	skin:	fetal
26	chr12:121535941-121535991	HepG2	liver:	n/a
27	chr12:121535941-121535991	ProgFib	skin:	n/a
28	chr12:121535941-121535991	SK-N-SH	brain:	n/a
29	chr12:121535941-121535991	BJ	skin:	n/a
30	chr12:121535941-121535991	ovcar-3	ovarian:	n/a
31	chr12:121535941-121535991	HL-60	blood:	n/a
32	chr12:121535941-121535991	GM12878	blood:	n/a
33	chr12:121535941-121535991	HCT-116	colon:	n/a
34	chr12:121535941-121535991	PANC-1	pancreas:	n/a
35	chr12:121535941-121535991	T-47D	breast:	n/a
36	chr12:121535941-121535991	HRE	kidney:	n/a
37	chr12:121535941-121535991	HAEpiC	amniotic membrane:	n/a
38	chr12:121535941-121535991	AG09309	skin:	n/a
39	chr12:121535941-121535991	SKMC	muscle:	n/a
40	chr12:121535941-121535991	K562	blood:	n/a
41	chr12:121535941-121535991	AG09319	gingival:	n/a
42	chr12:121535941-121535991	Jurkat	blood:	n/a
43	chr12:121535941-121535991	NH-A	brain:	n/a
44	chr12:121535941-121535991	GM19239	blood:	n/a
45	chr12:121535941-121535991	AG04450	lung:	fetal
46	chr12:121535941-121535991	HEK293	kidney:	embryo
47	chr12:121535941-121535991	HNPCEpiC	eye:	n/a
48	chr12:121535941-121535991	SK-N-SH_RA	brain:	n/a
49	chr12:121535941-121535991	H1-hESC	embryonic stem cell:	embryo
50	chr12:121535941-121535991	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121540942..121542575-chr12:121550109..121552835,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223538	TF binding region
ENSG00000201945	TF binding region
ENSG00000223538	CpG island
ENSG00000201945	CpG island

Extended variants
information (count: 224 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1180003	chr12:121535853-121535854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75310723	chr12:121535857-121535858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554018629	chr12:121535871-121535872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191176440	chr12:121535902-121535903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201055954	chr12:121535915-121535916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553898218	chr12:121535927-121535928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547666637	chr12:121535929-121535930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533504561	chr12:121535942-121535943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1180002	chr12:121535945-121535946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs182968979	chr12:121536039-121536040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556332126	chr12:121536070-121536071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544277952	chr12:121536119-121536120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2708091	chr12:121536135-121536136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs574546779	chr12:121536177-121536178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187555542	chr12:121536200-121536201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192602754	chr12:121536201-121536202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545905715	chr12:121536217-121536218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527585379	chr12:121536276-121536277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556056904	chr12:121536278-121536279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200070654	chr12:121536294-121536295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201199854	chr12:121536302-121536303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199698000	chr12:121536303-121536304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35022940	chr12:121536304-121536305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs5801419	chr12:121536306-121536307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200482743	chr12:121536307-121536308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546164031	chr12:121536337-121536338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141665630	chr12:121536357-121536358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3861795	chr12:121536477-121536478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs115719437	chr12:121536484-121536485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564074350	chr12:121536555-121536556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183371409	chr12:121536602-121536603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529456102	chr12:121536628-121536629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547594393	chr12:121536690-121536691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201856916	chr12:121536776-121536777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187714545	chr12:121536777-121536778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543582832	chr12:121536783-121536784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539742607	chr12:121536786-121536787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572218928	chr12:121536791-121536792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370304820	chr12:121536792-121536793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558062638	chr12:121536800-121536801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372634506	chr12:121536802-121536803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563452372	chr12:121536873-121536874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74966488	chr12:121536975-121536976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34928905	chr12:121537122-121537123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146220177	chr12:121537206-121537207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34914889	chr12:121537212-121537213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139163089	chr12:121537217-121537218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143993572	chr12:121537218-121537219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201707946	chr12:121537260-121537261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554003819	chr12:121537324-121537325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intracranial arachnoid cysts	20187927	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121534000-121545200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:121534200-121537400	Weak transcription	Ovary	ovary
3	chr12:121534600-121539200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr12:121539800-121540600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:121540000-121540400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:121541800-121542200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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