Variant report

Variant	esv3511394
Chromosome Location	chr12:122505045-122506543
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	BHLHE40	chr12:122505914-122506223	GM12878	blood:	n/a	n/a
2	CEBPB	chr12:122505567-122505772	HepG2	liver:	n/a	chr12:122505660-122505671
3	CEBPB	chr12:122505455-122505799	K562	blood:	n/a	chr12:122505660-122505671
4	CEBPB	chr12:122505477-122506163	IMR90	lung:	n/a	chr12:122505660-122505671
5	CEBPB	chr12:122505492-122505822	A549	lung:	n/a	chr12:122505660-122505671
6	CEBPB	chr12:122505471-122505837	MCF-7	breast:	n/a	chr12:122505660-122505671
7	CEBPB	chr12:122505539-122505831	A549	lung:	n/a	chr12:122505660-122505671
8	CEBPB	chr12:122505512-122505852	K562	blood:	n/a	chr12:122505660-122505671
9	CEBPB	chr12:122505551-122505811	H1-hESC	embryonic stem cell:	n/a	chr12:122505660-122505671
10	CEBPB	chr12:122505607-122505757	Hela-S3	cervix:	n/a	chr12:122505660-122505671
11	CHD2	chr12:122505834-122506307	GM12878	blood:	n/a	n/a
12	CTCF	chr12:122505940-122506090	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr12:122505960-122506110	GM12868	blood:	n/a	n/a
14	CTCF	chr12:122506000-122506150	HPF	lung:	n/a	n/a
15	CTCF	chr12:122506018-122506129	GM19239	blood:	n/a	n/a
16	CTCF	chr12:122505780-122505930	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr12:122506081-122506093	GM12878	blood:	n/a	n/a
18	CTCF	chr12:122506100-122506250	NHLF	lung:	n/a	n/a
19	CTCF	chr12:122506024-122506069	GM13976	blood:	n/a	n/a
20	CTCF	chr12:122505938-122506254	GM12878	blood:	n/a	n/a
21	CTCF	chr12:122505980-122506130	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr12:122505900-122506050	GM12864	blood:	n/a	n/a
23	CTCF	chr12:122506080-122506230	AG04450	lung:	n/a	n/a
24	CTCF	chr12:122506140-122506290	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chr12:122505980-122506215	IMR90	lung:	n/a	n/a
26	CTCF	chr12:122506053-122506081	GM12891	blood:	n/a	n/a
27	CTCF	chr12:122506009-122506102	Spleen_OC	spleen:	n/a	n/a
28	EBF1	chr12:122505827-122506302	GM12878	blood:	n/a	chr12:122506087-122506098
29	EBF1	chr12:122505848-122506518	GM12878	blood:	n/a	chr12:122506087-122506098
30	EBF1	chr12:122505811-122506305	GM12878	blood:	n/a	chr12:122506087-122506098
31	ELF1	chr12:122505849-122506366	GM12878	blood:	n/a	n/a
32	EP300	chr12:122505887-122506325	GM12878	blood:	n/a	n/a
33	EP300	chr12:122505893-122506288	GM12878	blood:	n/a	n/a
34	FOXM1	chr12:122505802-122506401	GM12878	blood:	n/a	n/a
35	FOXM1	chr12:122505797-122506345	GM12878	blood:	n/a	n/a
36	FOXP2	chr12:122505904-122506223	PFSK-1	brain:	n/a	chr12:122506176-122506188
37	GATA2	chr12:122504865-122505136	SH-SY5Y	brain:	n/a	n/a
38	MAX	chr12:122505867-122506283	GM12878	blood:	n/a	chr12:122506044-122506053
39	MAZ	chr12:122506001-122506297	GM12878	blood:	n/a	chr12:122506044-122506053
40	MTA3	chr12:122505753-122506310	GM12878	blood:	n/a	n/a
41	MXI1	chr12:122505883-122506324	GM12878	blood:	n/a	n/a
42	NFYB	chr12:122506086-122506101	GM12878	blood:	n/a	n/a
43	NRF1	chr12:122505990-122506379	GM12878	blood:	n/a	n/a
44	PAX5	chr12:122505735-122506365	GM12878	blood:	n/a	chr12:122506110-122506119 chr12:122506201-122506210
45	PAX5	chr12:122505899-122506181	GM12892	blood:	n/a	chr12:122506110-122506119
46	PAX5	chr12:122505866-122506220	GM12878	blood:	n/a	chr12:122506110-122506119 chr12:122506201-122506210
47	PAX5	chr12:122505832-122506181	GM12878	blood:	n/a	chr12:122506110-122506119
48	PAX5	chr12:122505917-122506199	GM12878	blood:	n/a	chr12:122506110-122506119
49	POLR2A	chr12:122505936-122506134	GM12878	blood:	n/a	n/a
50	POLR2A	chr12:122505945-122506215	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122502788..122505256-chr12:122580123..122582296,2	K562	blood:
2	chr12:122501321..122503552-chr12:122505833..122508072,2	K562	blood:
3	chr12:122487767..122490399-chr12:122506061..122507561,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL7A-1	chr12:122506195-122506464	ENSG00000256546
2	lnc-BCL7A-1	chr12:122506195-122506527	NONHSAT031487
3	lnc-BCL7A-1	chr12:122505934-122506097	NONHSAT031487
4	lnc-BCL7A-1	chr12:122505932-122506097	ENSG00000256546
5	lnc-BCL7A-1	chr12:122506195-122506522	ENSG00000256546
6	lnc-BCL7A-1	chr12:122505934-122506097	ENSG00000256546

Variant related genes	Relation type
ENSG00000256546	TF binding region
ENSG00000256546	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74532379	chr12:122505072-122505073	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs398070199	chr12:122505074-122505075	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs386767084	chr12:122505075-122505076	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs386767085	chr12:122505079-122505080	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs374574181	chr12:122505080-122505081	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs386767086	chr12:122505097-122505098	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs61952901	chr12:122505098-122505099	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs571372322	chr12:122505109-122505110	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs539506460	chr12:122505131-122505132	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs557576059	chr12:122505138-122505139	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187297533	chr12:122505202-122505203	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142178893	chr12:122505223-122505224	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73417645	chr12:122505263-122505264	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573630092	chr12:122505270-122505271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540803506	chr12:122505279-122505280	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61952902	chr12:122505386-122505387	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577427593	chr12:122505406-122505407	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545438913	chr12:122505519-122505520	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs111885210	chr12:122505524-122505525	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs530926272	chr12:122505529-122505530	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs567431934	chr12:122505539-122505540	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs561543838	chr12:122505564-122505565	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs73417650	chr12:122505600-122505601	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558786558	chr12:122505632-122505633	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs535878573	chr12:122505645-122505646	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs35764187	chr12:122505652-122505653	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539237703	chr12:122505663-122505664	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs116042914	chr12:122505679-122505680	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs371986058	chr12:122505709-122505710	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs563017077	chr12:122505710-122505711	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs386378000	chr12:122505727-122505728	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs35526820	chr12:122505728-122505729	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs569689756	chr12:122505742-122505743	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs372097407	chr12:122505809-122505810	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs555094601	chr12:122505827-122505828	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs553452642	chr12:122505840-122505841	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534567733	chr12:122505872-122505873	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs192188415	chr12:122505912-122505913	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs184576425	chr12:122505913-122505914	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544917360	chr12:122505973-122505974	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs145121785	chr12:122505990-122505991	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs114799280	chr12:122506003-122506004	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs543130436	chr12:122506024-122506025	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs561232115	chr12:122506034-122506035	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs528503730	chr12:122506050-122506051	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs376759915	chr12:122506065-122506066	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs565624135	chr12:122506066-122506067	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs116579916	chr12:122506145-122506146	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550926404	chr12:122506158-122506159	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs79108302	chr12:122506216-122506217	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122472000-122507200	Weak transcription	Fetal Brain Male	brain
2	chr12:122492600-122505600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:122500200-122506000	Weak transcription	Dnd41	blood
4	chr12:122500800-122507800	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:122500800-122510000	Weak transcription	Brain Germinal Matrix	brain
6	chr12:122501400-122505600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:122501600-122505400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:122501600-122505600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr12:122501600-122505600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:122501600-122505600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:122501600-122509800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:122501800-122505800	Weak transcription	Primary T cells from cord blood	blood
13	chr12:122502000-122505200	Weak transcription	Primary B cells from cord blood	blood
14	chr12:122502000-122505800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:122502200-122509800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:122502400-122505600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:122502600-122505400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:122502600-122505400	Weak transcription	Thymus	Thymus
19	chr12:122502600-122505600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:122502600-122505800	Weak transcription	Small Intestine	intestine
21	chr12:122502600-122506000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:122502600-122510200	Weak transcription	Psoas Muscle	Psoas
23	chr12:122502600-122516200	Weak transcription	Gastric	stomach
24	chr12:122503000-122505600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:122503000-122510200	Weak transcription	Brain Angular Gyrus	brain
26	chr12:122503200-122505200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:122503200-122505400	Weak transcription	GM12878-XiMat	blood
28	chr12:122503200-122505800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:122503200-122505800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:122503200-122510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:122503200-122510000	Weak transcription	Hela-S3	cervix
32	chr12:122503200-122510200	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:122503200-122510200	Weak transcription	Brain Substantia Nigra	brain
34	chr12:122503400-122505600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:122503400-122505600	Weak transcription	Liver	Liver
36	chr12:122503400-122505600	Weak transcription	NHLF	lung
37	chr12:122503400-122505800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:122503400-122505800	Weak transcription	Adipose Nuclei	Adipose
39	chr12:122503400-122505800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:122503400-122505800	Weak transcription	Fetal Kidney	kidney
41	chr12:122503400-122505800	Weak transcription	Lung	lung
42	chr12:122503400-122507400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:122503400-122509800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:122503400-122510000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr12:122503400-122510000	Weak transcription	HSMM	muscle
46	chr12:122503400-122510200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:122503400-122510200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:122503400-122510200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:122503400-122510200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:122503400-122510200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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