Variant report

Variant	esv21424
Chromosome Location	chr12:122634975-122649886
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	chr12:122640323-122640523	K562	blood:	n/a	n/a
2	ATF1	chr12:122640374-122640676	K562	blood:	n/a	n/a
3	BHLHE40	chr12:122644534-122644646	K562	blood:	n/a	n/a
4	BHLHE40	chr12:122640426-122640575	K562	blood:	n/a	n/a
5	CCNT2	chr12:122634929-122635096	K562	blood:	n/a	n/a
6	CCNT2	chr12:122640322-122640608	K562	blood:	n/a	n/a
7	CEBPB	chr12:122637760-122637964	H1-hESC	embryonic stem cell:	n/a	chr12:122637852-122637863
8	CEBPB	chr12:122637790-122637953	HepG2	liver:	n/a	chr12:122637852-122637863
9	CEBPB	chr12:122640516-122640524	K562	blood:	n/a	n/a
10	CEBPB	chr12:122637806-122637948	K562	blood:	n/a	chr12:122637852-122637863
11	CEBPB	chr12:122637846-122637867	IMR90	lung:	n/a	chr12:122637852-122637863
12	CEBPB	chr12:122640297-122640627	K562	blood:	n/a	n/a
13	CEBPD	chr12:122640179-122640798	K562	blood:	n/a	n/a
14	CEBPD	chr12:122640208-122640790	K562	blood:	n/a	n/a
15	CTCF	chr12:122644580-122644730	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr12:122636620-122636770	HRPEpiC	eye:	n/a	chr12:122636715-122636728
17	CTCF	chr12:122644629-122644669	GM19239	blood:	n/a	n/a
18	CTCF	chr12:122644540-122644690	GM12871	blood:	n/a	n/a
19	CTCF	chr12:122644560-122644710	SAEC	small airway:	n/a	n/a
20	CTCF	chr12:122636660-122636810	HCT-116	colon:	n/a	chr12:122636715-122636728
21	CTCF	chr12:122636600-122636750	HCM	heart:	n/a	chr12:122636715-122636728
22	CTCF	chr12:122636606-122636778	A549	lung:	n/a	chr12:122636715-122636728
23	CTCF	chr12:122636670-122636759	GM12878	blood:	n/a	chr12:122636715-122636728
24	CTCF	chr12:122636600-122636750	GM12874	blood:	n/a	chr12:122636715-122636728
25	CTCF	chr12:122644648-122644721	Medullo	brain:	n/a	n/a
26	CTCF	chr12:122636620-122636770	GM12864	blood:	n/a	chr12:122636715-122636728
27	CTCF	chr12:122636545-122636900	K562	blood:	n/a	chr12:122636715-122636728
28	CTCF	chr12:122636600-122636750	HVMF	connective:	n/a	chr12:122636715-122636728
29	CTCF	chr12:122636780-122636930	HFF	foreskin:	n/a	n/a
30	CTCF	chr12:122636600-122636750	HBMEC	blood vessel:	n/a	chr12:122636715-122636728
31	CTCF	chr12:122644640-122644790	GM12868	blood:	n/a	n/a
32	CTCF	chr12:122636621-122636815	SK-N-SH_RA	brain:	n/a	chr12:122636715-122636728
33	CTCF	chr12:122644580-122644730	HepG2	liver:	n/a	n/a
34	CTCF	chr12:122636660-122636810	GM12872	blood:	n/a	chr12:122636715-122636728
35	CTCF	chr12:122644600-122644750	Caco-2	colon:	n/a	n/a
36	CTCF	chr12:122643842-122643865	GM13976	blood:	n/a	n/a
37	CTCF	chr12:122644580-122644730	MCF-7	breast:	n/a	n/a
38	CTCF	chr12:122644620-122644700	GM10248	blood:	n/a	n/a
39	CTCF	chr12:122644581-122644692	GM19238	blood:	n/a	n/a
40	CTCF	chr12:122644559-122644770	MCF-7	breast:	n/a	n/a
41	CTCF	chr12:122644500-122644650	GM12872	blood:	n/a	n/a
42	CTCF	chr12:122644573-122644782	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr12:122636625-122636800	MCF-7	breast:	n/a	chr12:122636715-122636728
44	CTCF	chr12:122644640-122644790	GM12865	blood:	n/a	n/a
45	CTCF	chr12:122644604-122644713	GM10266	blood:	n/a	n/a
46	CTCF	chr12:122636620-122636770	RPTEC	kidney:	n/a	chr12:122636715-122636728
47	CTCF	chr12:122644540-122644690	GM12872	blood:	n/a	n/a
48	CTCF	chr12:122644580-122644730	GM12869	blood:	n/a	n/a
49	CTCF	chr12:122644422-122644827	MCF-7	breast:	n/a	n/a
50	CTCF	chr12:122636640-122636790	HFF-Myc	foreskin:	n/a	chr12:122636715-122636728

No.	Distal block	Cell Line	Cell type
1	chr12:122639341..122641993-chr12:122642120..122644689,2	MCF-7	breast:
2	chr12:122628543..122630862-chr12:122633835..122635395,2	K562	blood:
3	chr12:122636990..122638989-chr12:122648098..122649775,2	K562	blood:
4	chr12:122467382..122468928-chr12:122633431..122635226,2	K562	blood:
5	chr12:122639341..122641993-chr12:122642120..122644689,2	MCF-7	breast:
6	chr12:122615491..122616193-chr12:122635825..122636934,4	MCF-7	breast:
7	chr12:122631254..122633106-chr12:122634821..122636708,2	MCF-7	breast:
8	chr12:122492378..122493010-chr12:122636236..122636816,2	K562	blood:
9	chr12:122648387..122651119-chr12:122655158..122657208,2	K562	blood:
10	chr12:122648387..122651161-chr12:122655035..122656658,2	K562	blood:
11	chr12:122631493..122633468-chr12:122636504..122639040,2	K562	blood:
12	chr12:122636990..122638989-chr12:122648098..122649775,2	K562	blood:

Variant related genes	Relation type
LRRC43	TF binding region

Extended variants
information (count: 662 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:662 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189933030	chr12:122635094-122635095	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs141962164	chr12:122635129-122635130	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs542373363	chr12:122635132-122635133	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs567395982	chr12:122635137-122635138	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs115632744	chr12:122635141-122635142	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs552657689	chr12:122635152-122635153	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs182502090	chr12:122635154-122635155	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs187200088	chr12:122635160-122635161	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs147295478	chr12:122635164-122635165	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs543134622	chr12:122635199-122635200	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs542461440	chr12:122635202-122635203	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192782154	chr12:122635292-122635293	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs573037878	chr12:122635304-122635305	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs12318359	chr12:122635353-122635354	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs140863405	chr12:122635356-122635357	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs532542237	chr12:122635362-122635363	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs374442380	chr12:122635387-122635388	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs550953003	chr12:122635406-122635407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563221478	chr12:122635412-122635413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559418533	chr12:122635422-122635423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528700980	chr12:122635431-122635432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545154693	chr12:122635445-122635446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565239367	chr12:122635454-122635455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548833973	chr12:122635488-122635489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567084883	chr12:122635506-122635507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534389173	chr12:122635525-122635526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368921419	chr12:122635550-122635551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10773144	chr12:122635575-122635576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147471982	chr12:122635583-122635584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139260523	chr12:122635602-122635603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61954254	chr12:122635613-122635614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34083019	chr12:122635625-122635626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386378001	chr12:122635626-122635627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386378002	chr12:122635646-122635647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536026557	chr12:122635673-122635674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567290548	chr12:122635692-122635693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185264515	chr12:122635724-122635725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11058044	chr12:122635743-122635744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554310955	chr12:122635796-122635797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368348023	chr12:122635797-122635798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371817223	chr12:122635801-122635802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370498953	chr12:122635808-122635809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71082942	chr12:122635809-122635810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200654564	chr12:122635824-122635825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540322943	chr12:122635836-122635837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565389436	chr12:122635876-122635877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577160255	chr12:122635922-122635923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544621674	chr12:122635963-122635964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563158725	chr12:122635972-122635973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11058058	chr12:122635983-122635984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122627000-122646800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:122627400-122636400	Weak transcription	K562	blood
3	chr12:122627800-122636000	Weak transcription	Psoas Muscle	Psoas
4	chr12:122628200-122637400	Weak transcription	Brain Substantia Nigra	brain
5	chr12:122628400-122636400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:122628600-122640000	Weak transcription	Esophagus	oesophagus
7	chr12:122628800-122636200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:122628800-122636200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:122628800-122636200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:122628800-122636400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:122628800-122636400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:122628800-122636400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:122628800-122636600	Weak transcription	A549	lung
14	chr12:122628800-122637400	Weak transcription	Brain Anterior Caudate	brain
15	chr12:122628800-122637600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:122629000-122636600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:122629200-122640600	Weak transcription	Primary T cells from cord blood	blood
18	chr12:122629200-122643600	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:122630200-122636200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:122630200-122636400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:122630600-122635000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:122630600-122641200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:122630600-122655600	Weak transcription	Right Ventricle	heart
24	chr12:122630800-122640200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:122631000-122635000	Weak transcription	Spleen	Spleen
26	chr12:122632400-122636400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:122632600-122636400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:122633400-122636400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:122634000-122635000	Weak transcription	Ovary	ovary
30	chr12:122634000-122636400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:122634000-122649600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:122635000-122635200	Enhancers	Ovary	ovary
33	chr12:122635000-122635400	Active TSS	Spleen	Spleen
34	chr12:122636000-122636600	Enhancers	Psoas Muscle	Psoas
35	chr12:122636200-122636800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr12:122636200-122636800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr12:122636200-122636800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr12:122636200-122637000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:122636400-122636600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:122636400-122636600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:122636400-122636600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:122636400-122636600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:122636400-122636600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:122636400-122636600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:122636400-122636800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:122636400-122636800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:122636400-122636800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:122636400-122637000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:122636400-122637200	Enhancers	K562	blood
50	chr12:122636400-122637600	Enhancers	Brain Cingulate Gyrus	brain

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