Variant report

Variant	esv3374724
Chromosome Location	chr12:47531385-47535683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:47532851-47533065	A549	lung:	n/a	n/a
2	CTCF	chr12:47535480-47535630	GM12871	blood:	n/a	n/a
3	CTCF	chr12:47533039-47533132	LNCaP	prostate:	n/a	n/a
4	CTCF	chr12:47535552-47535585	NHEK	skin:	n/a	n/a
5	CTCF	chr12:47535540-47535690	HepG2	liver:	n/a	n/a
6	CTCF	chr12:47535513-47535623	MCF-7	breast:	n/a	n/a
7	CTCF	chr12:47533411-47533459	MCF-7	breast:	n/a	n/a
8	CTCF	chr12:47535545-47535600	MCF-7	breast:	n/a	n/a
9	CTCF	chr12:47535559-47535625	MCF-7	breast:	n/a	n/a
10	CTCF	chr12:47535420-47535570	GM12865	blood:	n/a	n/a
11	CTCF	chr12:47535360-47535510	MCF-7	breast:	n/a	n/a
12	CTCF	chr12:47535640-47535790	GM12871	blood:	n/a	n/a
13	FOXA1	chr12:47532500-47532694	T-47D	breast:	n/a	n/a
14	FOXA1	chr12:47532456-47532808	T-47D	breast:	n/a	n/a
15	KAP1	chr12:47534008-47534208	K562	blood:	n/a	n/a
16	MAX	chr12:47532874-47533711	NB4	blood:	n/a	chr12:47533202-47533212
17	MAX	chr12:47535448-47535536	Hela-S3	cervix:	n/a	n/a
18	MAX	chr12:47535367-47535567	H1-hESC	embryonic stem cell:	n/a	n/a
19	MXI1	chr12:47535194-47535230	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr12:47533389-47533390	MCF-7	breast:	n/a	n/a
21	MYC	chr12:47532847-47533435	NB4	blood:	n/a	chr12:47533202-47533212
22	POLR2A	chr12:47531447-47531520	ProgFib	skin:	n/a	n/a
23	POLR2A	chr12:47535336-47535342	A549	lung:	n/a	n/a
24	POLR2A	chr12:47535303-47535323	A549	lung:	n/a	n/a
25	POLR2A	chr12:47533258-47533330	Gliobla	brain:	n/a	n/a
26	POLR2A	chr12:47533388-47533468	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr12:47533355-47533392	Gliobla	brain:	n/a	n/a
28	SPI1	chr12:47532749-47533493	HL-60	blood:	n/a	n/a
29	TEAD4	chr12:47535274-47535646	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47533951..47536352-chr12:47547162..47551314,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMIGO2-3	chr12:47531999-47532153	NONHSAT027895

No data

Variant related genes	Relation type
ENSG00000258352	TF binding region

Extended variants
information (count: 143 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201468273	chr12:47531391-47531392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35395577	chr12:47531404-47531405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562741908	chr12:47531457-47531458	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs531889657	chr12:47531467-47531468	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs542069208	chr12:47531482-47531483	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs561006382	chr12:47531490-47531491	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs11610249	chr12:47531504-47531505	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs71077122	chr12:47531514-47531515	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs549306428	chr12:47531526-47531527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199856901	chr12:47531527-47531528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202059419	chr12:47531536-47531537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61634155	chr12:47531546-47531547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77769833	chr12:47531566-47531567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562880396	chr12:47531603-47531604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368966044	chr12:47531624-47531625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188173095	chr12:47531632-47531633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529774988	chr12:47531664-47531665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546599199	chr12:47531665-47531666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151277836	chr12:47531706-47531707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532438648	chr12:47531717-47531718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552550970	chr12:47531724-47531725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569060567	chr12:47531770-47531771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538003231	chr12:47531812-47531813	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578046624	chr12:47531824-47531825	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181059542	chr12:47531871-47531872	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545738217	chr12:47531879-47531880	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140436967	chr12:47531905-47531906	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184944445	chr12:47531921-47531922	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560796671	chr12:47531970-47531971	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190236698	chr12:47532076-47532077	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs11183756	chr12:47532101-47532102	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545799006	chr12:47532102-47532103	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs181850100	chr12:47532115-47532116	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs375683897	chr12:47532152-47532153	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs576681808	chr12:47532186-47532187	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150410633	chr12:47532205-47532206	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113475572	chr12:47532243-47532244	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187336479	chr12:47532337-47532338	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191832840	chr12:47532352-47532353	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74840196	chr12:47532411-47532412	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181979511	chr12:47532433-47532434	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138327058	chr12:47532441-47532442	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17097638	chr12:47532448-47532449	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs143106058	chr12:47532470-47532471	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs185118396	chr12:47532515-47532516	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs145169101	chr12:47532519-47532520	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs373290497	chr12:47532571-47532572	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs138919869	chr12:47532577-47532578	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs534017210	chr12:47532622-47532623	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs547529435	chr12:47532672-47532673	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47497400-47535200	Weak transcription	Aorta	Aorta
2	chr12:47505800-47538600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:47506000-47535000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:47506200-47538400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:47507400-47532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:47508400-47545200	Weak transcription	HSMMtube	muscle
7	chr12:47509400-47531800	Weak transcription	Primary T cells from cord blood	blood
8	chr12:47516200-47533000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:47517000-47532400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:47517200-47534600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:47517400-47538400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:47518800-47533000	Weak transcription	NHEK	skin
13	chr12:47519400-47533000	Weak transcription	HSMM	muscle
14	chr12:47519600-47532400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:47525200-47535200	Weak transcription	Esophagus	oesophagus
16	chr12:47525800-47533200	Weak transcription	Spleen	Spleen
17	chr12:47526400-47533000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:47526600-47531800	Weak transcription	Fetal Intestine Small	intestine
19	chr12:47527000-47547800	Weak transcription	Ovary	ovary
20	chr12:47527200-47533400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:47528200-47533000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:47529400-47533400	Weak transcription	Pancreas	Pancrea
23	chr12:47529600-47535000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:47529600-47542600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:47529800-47533000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:47529800-47535000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:47530400-47531800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:47530400-47532000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr12:47531000-47532400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr12:47531800-47533000	Strong transcription	Primary T cells from cord blood	blood
31	chr12:47531800-47533400	Enhancers	Fetal Intestine Small	intestine
32	chr12:47531800-47536000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:47531800-47538000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:47532000-47532200	Enhancers	Gastric	stomach
35	chr12:47532000-47533200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr12:47532000-47533200	Enhancers	Fetal Intestine Large	intestine
37	chr12:47532200-47533400	Weak transcription	Gastric	stomach
38	chr12:47532400-47532600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:47532400-47533400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:47532400-47533800	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr12:47532400-47534000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr12:47532400-47534200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr12:47532600-47533000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:47532800-47533200	Weak transcription	Osteobl	bone
45	chr12:47532800-47533800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:47533000-47533600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:47533000-47533600	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr12:47533000-47533600	ZNF genes & repeats	HMEC	breast
49	chr12:47533000-47533600	ZNF genes & repeats	NHEK	skin
50	chr12:47533000-47533800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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