Variant report

Variant	esv3336985
Chromosome Location	chr12:104370741-104373782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:75)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:75 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:104372574-104372645	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr12:104372594-104372623	Spleen_OC	spleen:	n/a	n/a
3	CTCF	chr12:104372434-104372760	GM12878	blood:	n/a	n/a
4	CTCF	chr12:104372540-104372690	GM12878	blood:	n/a	n/a
5	CTCF	chr12:104372580-104372730	GM12872	blood:	n/a	n/a
6	CTCF	chr12:104373380-104373530	GM12873	blood:	n/a	n/a
7	CTCF	chr12:104372520-104372670	GM12874	blood:	n/a	n/a
8	CTCF	chr12:104372924-104373023	GM10248	blood:	n/a	n/a
9	EBF1	chr12:104372340-104372699	GM12878	blood:	n/a	chr12:104372534-104372545
10	EBF1	chr12:104372335-104372742	GM12878	blood:	n/a	chr12:104372534-104372545
11	GATA3	chr12:104372569-104372672	SH-SY5Y	brain:	n/a	n/a
12	POLR2A	chr12:104370997-104372789	GM12892	blood:	n/a	n/a
13	POLR2A	chr12:104371018-104371410	K562	blood:	n/a	n/a
14	POLR2A	chr12:104370657-104372861	GM12892	blood:	n/a	n/a
15	POLR2A	chr12:104370975-104372773	GM12892	blood:	n/a	n/a
16	POLR2A	chr12:104370967-104371925	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:104371039-104371160	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr12:104372362-104372457	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:104371062-104371382	K562	blood:	n/a	n/a
20	POLR2A	chr12:104371950-104372090	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr12:104372140-104372647	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:104371139-104371339	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr12:104371045-104371358	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr12:104372219-104372404	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr12:104371867-104372884	GM12891	blood:	n/a	n/a
26	POLR2A	chr12:104371661-104371680	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr12:104370907-104371414	GM12892	blood:	n/a	n/a
28	POLR2A	chr12:104372613-104372630	K562	blood:	n/a	n/a
29	POLR2A	chr12:104371751-104371837	K562	blood:	n/a	n/a
30	POLR2A	chr12:104372661-104372722	K562	blood:	n/a	n/a
31	POLR2A	chr12:104371460-104371769	K562	blood:	n/a	n/a
32	POLR2A	chr12:104372029-104372336	MCF-7	breast:	n/a	n/a
33	POLR2A	chr12:104371690-104371788	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr12:104371137-104371326	HepG2	liver:	n/a	n/a
35	POLR2A	chr12:104371555-104371815	GM12891	blood:	n/a	n/a
36	POLR2A	chr12:104371832-104372419	GM12892	blood:	n/a	n/a
37	POLR2A	chr12:104371644-104371706	K562	blood:	n/a	n/a
38	POLR2A	chr12:104370974-104371799	GM12891	blood:	n/a	n/a
39	POLR2A	chr12:104371076-104371388	K562	blood:	n/a	n/a
40	POLR2A	chr12:104371845-104371877	K562	blood:	n/a	n/a
41	POLR2A	chr12:104371187-104371375	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr12:104371802-104372832	K562	blood:	n/a	n/a
43	POLR2A	chr12:104371728-104371734	MCF-7	breast:	n/a	n/a
44	POLR2A	chr12:104371173-104371612	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr12:104371008-104371549	K562	blood:	n/a	n/a
46	POLR2A	chr12:104373336-104373437	K562	blood:	n/a	n/a
47	POLR2A	chr12:104372262-104372447	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr12:104371107-104371266	GM12878	blood:	n/a	n/a
49	POLR2A	chr12:104372428-104372786	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr12:104371456-104371810	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104348589..104351037-chr12:104369776..104372245,2	MCF-7	breast:
2	chr12:104362237..104366185-chr12:104369419..104371303,3	MCF-7	breast:
3	chr12:104369091..104370992-chr12:104385433..104387266,2	K562	blood:
4	chr12:104369082..104370853-chr12:104372418..104374505,3	K562	blood:
5	chr12:104370024..104373447-chr12:104374664..104377599,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSP90B1-2	chr12:104372014-104372072	l_718_chr12:104372013-104376103
2	lnc-HSP90B1-1	chr12:104373609-104374251	NONHSAT030402

No data

Variant related genes	Relation type
TDG	TF binding region
ENSG00000204954	chromatin interactions
ENSG00000139372	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199719472	chr12:104370773-104370774	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs372027681	chr12:104370784-104370785	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs367858051	chr12:104370793-104370794	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs573164694	chr12:104370795-104370796	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs376956993	chr12:104370815-104370816	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs3829300	chr12:104370850-104370851	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371519898	chr12:104370852-104370853	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs201410272	chr12:104370854-104370855	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549706045	chr12:104370863-104370864	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs56344754	chr12:104370864-104370865	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs369817248	chr12:104370875-104370876	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs373452637	chr12:104370879-104370880	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs569849657	chr12:104370965-104370966	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs369675975	chr12:104371031-104371032	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs535669553	chr12:104371064-104371065	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548890252	chr12:104371107-104371108	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs4135085	chr12:104371125-104371126	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs4135086	chr12:104371129-104371130	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557838942	chr12:104371150-104371151	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs2576943	chr12:104371163-104371164	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537032678	chr12:104371164-104371165	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs557730336	chr12:104371178-104371179	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs574227535	chr12:104371196-104371197	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs4135087	chr12:104371225-104371226	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553314031	chr12:104371227-104371228	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs139761189	chr12:104371242-104371243	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs167716	chr12:104371270-104371271	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs565032421	chr12:104371330-104371331	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs4135088	chr12:104371342-104371343	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs188970716	chr12:104371365-104371366	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs167715	chr12:104371367-104371368	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs4135089	chr12:104371429-104371430	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs549231357	chr12:104371437-104371438	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs565738708	chr12:104371539-104371540	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs528255736	chr12:104371563-104371564	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs551540799	chr12:104371570-104371571	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs192457941	chr12:104371582-104371583	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs143661042	chr12:104371613-104371614	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs556979130	chr12:104371619-104371620	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs322108	chr12:104371624-104371625	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs539495049	chr12:104371641-104371642	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs183913755	chr12:104371659-104371660	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs186840300	chr12:104371665-104371666	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs117105001	chr12:104371689-104371690	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs139654733	chr12:104371701-104371702	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs558655098	chr12:104371723-104371724	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs575320068	chr12:104371758-104371759	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs144413160	chr12:104371789-104371790	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs71850885	chr12:104371838-104371839	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs563074095	chr12:104371844-104371845	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	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
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104360800-104371200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:104360800-104371200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:104360800-104371200	Weak transcription	Colonic Mucosa	Colon
4	chr12:104360800-104371800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:104360800-104378600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:104360800-104381000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:104361000-104370800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:104361000-104371000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:104361000-104371000	Weak transcription	Fetal Kidney	kidney
10	chr12:104361000-104372000	Weak transcription	Stomach Mucosa	stomach
11	chr12:104361200-104370800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:104361200-104370800	Weak transcription	Fetal Lung	lung
13	chr12:104361200-104371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:104361200-104371000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:104361200-104379400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:104361600-104385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:104361800-104371200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:104362000-104373800	Weak transcription	Psoas Muscle	Psoas
19	chr12:104362000-104382600	Weak transcription	Esophagus	oesophagus
20	chr12:104362000-104384400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
22	chr12:104362200-104370800	Weak transcription	Adipose Nuclei	Adipose
23	chr12:104362200-104371200	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:104362200-104384800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:104362400-104371000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:104362400-104371000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:104362400-104371200	Weak transcription	Brain Germinal Matrix	brain
28	chr12:104362400-104371400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:104362400-104378000	Weak transcription	Small Intestine	intestine
30	chr12:104362600-104371000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:104362600-104371000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:104363200-104371000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:104363400-104371200	Weak transcription	Brain Substantia Nigra	brain
34	chr12:104363400-104371200	Weak transcription	Fetal Brain Female	brain
35	chr12:104363400-104371400	Weak transcription	Spleen	Spleen
36	chr12:104363600-104371000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:104363600-104371000	Weak transcription	Brain Anterior Caudate	brain
38	chr12:104363600-104371000	Weak transcription	Gastric	stomach
39	chr12:104363600-104371000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:104363600-104371000	Weak transcription	Thymus	Thymus
41	chr12:104363600-104371200	Weak transcription	Aorta	Aorta
42	chr12:104363600-104371200	Weak transcription	Brain Angular Gyrus	brain
43	chr12:104363800-104370800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:104363800-104370800	Weak transcription	Liver	Liver
45	chr12:104363800-104370800	Weak transcription	Hela-S3	cervix
46	chr12:104363800-104370800	Weak transcription	NHLF	lung
47	chr12:104363800-104371000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:104363800-104371000	Weak transcription	A549	lung
49	chr12:104363800-104371000	Weak transcription	NHDF-Ad	bronchial
50	chr12:104363800-104371400	Weak transcription	HMEC	breast

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