Variant report

Variant	esv997744
Chromosome Location	chr12:104142058-104146509
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	CTCF	chr12:104145033-104145160	GM12891	blood:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
2	CTCF	chr12:104145000-104145150	HMEC	breast:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
3	CTCF	chr12:104145000-104145150	HRPEpiC	eye:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
4	CTCF	chr12:104145047-104145203	A549	lung:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
5	CTCF	chr12:104145060-104145210	NHEK	skin:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
6	CTCF	chr12:104144960-104145110	HVMF	connective:	n/a	n/a
7	CTCF	chr12:104145180-104145330	HFF-Myc	foreskin:	n/a	n/a
8	CTCF	chr12:104145160-104145310	RPTEC	kidney:	n/a	n/a
9	CTCF	chr12:104145060-104145210	GM12869	blood:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
10	CTCF	chr12:104145000-104145150	GM12869	blood:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
11	CTCF	chr12:104144760-104144910	GM12875	blood:	n/a	n/a
12	CTCF	chr12:104145034-104145193	MCF-7	breast:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
13	CTCF	chr12:104145060-104145210	K562	blood:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
14	CTCF	chr12:104145080-104145230	SAEC	small airway:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
15	CTCF	chr12:104145100-104145250	GM12874	blood:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
16	CTCF	chr12:104145100-104145250	GM06990	blood:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
17	CTCF	chr12:104145040-104145190	HCM	heart:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
18	CTCF	chr12:104145060-104145210	HMF	breast:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
19	CTCF	chr12:104145080-104145230	GM06990	blood:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
20	CTCF	chr12:104145134-104145142	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr12:104144780-104145498	A549	lung:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
22	CTCF	chr12:104145240-104145390	HRPEpiC	eye:	n/a	n/a
23	CTCF	chr12:104145020-104145170	HMF	breast:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
24	CTCF	chr12:104145039-104145163	MCF-7	breast:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
25	CTCF	chr12:104145080-104145230	RPTEC	kidney:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
26	CTCF	chr12:104145062-104145178	GM19240	blood:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
27	CTCF	chr12:104145077-104145137	Fibrobl	skin:	n/a	n/a
28	CTCF	chr12:104145004-104145206	HepG2	liver:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
29	CTCF	chr12:104144980-104145130	GM12878	blood:	n/a	n/a
30	CTCF	chr12:104144820-104144970	GM12878	blood:	n/a	n/a
31	CTCF	chr12:104145060-104145210	GM12868	blood:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
32	CTCF	chr12:104145000-104145150	HepG2	liver:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
33	CTCF	chr12:104145100-104145250	GM12870	blood:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
34	CTCF	chr12:104144993-104145294	H1-hESC	embryonic stem cell:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
35	CTCF	chr12:104145043-104145265	GM12878	blood:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
36	CTCF	chr12:104145100-104145250	HUVEC	blood vessel:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
37	CTCF	chr12:104145040-104145190	NB4	blood:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
38	CTCF	chr12:104145100-104145250	GM12864	blood:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
39	CTCF	chr12:104145025-104145261	K562	blood:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
40	CTCF	chr12:104145020-104145170	HepG2	liver:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
41	CTCF	chr12:104145060-104145210	GM12872	blood:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
42	CTCF	chr12:104145040-104145190	HRE	kidney:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
43	CTCF	chr12:104145100-104145250	Caco-2	colon:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
44	CTCF	chr12:104144180-104144330	NB4	blood:	n/a	n/a
45	CTCF	chr12:104145052-104145215	Hela-S3	cervix:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
46	CTCF	chr12:104145080-104145230	GM12865	blood:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
47	CTCF	chr12:104145060-104145210	BE2_C	brain:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
48	CTCF	chr12:104145060-104145210	HCFaa	heart:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
49	CTCF	chr12:104145040-104145190	GM12873	blood:	n/a	chr12:104145131-104145140 chr12:104145125-104145143
50	CTCF	chr12:104145060-104145210	HCT-116	colon:	n/a	chr12:104145131-104145140 chr12:104145125-104145143

No.	Distal block	Cell Line	Cell type
1	chr12:104141190..104143680-chr12:104152511..104154434,2	MCF-7	breast:
2	chr12:104142871..104145771-chr12:104147751..104150375,2	K562	blood:
3	chr12:104131640..104133460-chr12:104142100..104144615,2	K562	blood:
4	chr12:104134942..104137078-chr12:104139812..104142244,2	MCF-7	breast:

Variant related genes	Relation type
STAB2	TF binding region
ENSG00000136011	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:204 , 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	rs113254934	chr12:104142204-104142205	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142525328	chr12:104142214-104142215	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376331338	chr12:104142255-104142256	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529187330	chr12:104142273-104142274	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191069794	chr12:104142287-104142288	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543923500	chr12:104142326-104142327	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376031913	chr12:104142362-104142363	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374675536	chr12:104142363-104142364	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34364589	chr12:104142364-104142365	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11111743	chr12:104142381-104142382	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11111744	chr12:104142383-104142384	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71097994	chr12:104142384-104142385	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61939561	chr12:104142387-104142388	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55897351	chr12:104142391-104142392	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377072052	chr12:104142398-104142399	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559951369	chr12:104142400-104142401	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565750907	chr12:104142415-104142416	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7134650	chr12:104142417-104142418	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557567997	chr12:104142423-104142424	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186773579	chr12:104142436-104142437	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537132740	chr12:104142515-104142516	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557030293	chr12:104142520-104142521	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573656215	chr12:104142522-104142523	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371505325	chr12:104142586-104142587	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560685559	chr12:104142624-104142625	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553596989	chr12:104142631-104142632	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146007215	chr12:104142649-104142650	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2292685	chr12:104142670-104142671	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs374834210	chr12:104142699-104142700	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2292684	chr12:104142700-104142701	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369188029	chr12:104142766-104142767	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561547614	chr12:104142784-104142785	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373408883	chr12:104142790-104142791	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151012888	chr12:104142808-104142809	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201122578	chr12:104142816-104142817	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544287054	chr12:104142839-104142840	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141360939	chr12:104142847-104142848	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370367535	chr12:104142848-104142849	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150613004	chr12:104142863-104142864	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201554631	chr12:104142874-104142875	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs147900919	chr12:104142883-104142884	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs141685973	chr12:104142892-104142893	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200152016	chr12:104142904-104142905	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs199757471	chr12:104142905-104142906	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs139718815	chr12:104142910-104142911	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375507356	chr12:104142911-104142912	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs368326407	chr12:104142923-104142924	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs138257532	chr12:104142933-104142934	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200682783	chr12:104142940-104142941	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571451174	chr12:104142941-104142942	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104136400-104143800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:104136400-104145600	Weak transcription	Right Atrium	heart
3	chr12:104136400-104146800	Weak transcription	Liver	Liver
4	chr12:104136600-104145400	Weak transcription	HSMMtube	muscle
5	chr12:104136800-104147000	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:104139200-104154200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:104140000-104147000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:104140600-104145000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:104140600-104154600	Weak transcription	Aorta	Aorta
10	chr12:104140800-104142800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:104141000-104142800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:104141200-104142800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:104141200-104142800	Enhancers	NHEK	skin
14	chr12:104141400-104142200	Weak transcription	Spleen	Spleen
15	chr12:104141800-104142600	Enhancers	HMEC	breast
16	chr12:104142000-104142400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr12:104142000-104143000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:104142200-104145200	Strong transcription	Spleen	Spleen
19	chr12:104142400-104142600	Enhancers	Fetal Muscle Leg	muscle
20	chr12:104142600-104152200	Weak transcription	HMEC	breast
21	chr12:104142800-104152000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:104142800-104154600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:104142800-104154600	Weak transcription	NHEK	skin
24	chr12:104143000-104149200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:104143800-104145000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:104144400-104145800	Enhancers	Fetal Muscle Leg	muscle
27	chr12:104145000-104145400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:104145000-104146800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:104145200-104145400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:104145200-104146400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:104145200-104147000	Weak transcription	Spleen	Spleen
32	chr12:104145400-104145600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:104145400-104145800	Enhancers	HSMMtube	muscle
34	chr12:104145400-104149000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:104145400-104151400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:104145600-104145800	Enhancers	Right Atrium	heart
37	chr12:104145600-104146200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:104145600-104154800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:104145800-104146000	Enhancers	HSMM	muscle
40	chr12:104145800-104152000	Weak transcription	HSMMtube	muscle
41	chr12:104145800-104152400	Weak transcription	Esophagus	oesophagus
42	chr12:104145800-104166800	Weak transcription	Right Atrium	heart
43	chr12:104146000-104154600	Weak transcription	HSMM	muscle
44	chr12:104146200-104169400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:104146400-104148200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links