Variant report

Variant	esv1798657
Chromosome Location	chr12:117354067-117392259
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117171214..117173165-chr12:117362456..117365349,2	MCF-7	breast:
2	chr12:117359173..117361921-chr12:117365401..117367494,2	MCF-7	breast:
3	chr12:117356635..117358381-chr12:117361006..117362660,2	K562	blood:
4	chr12:117349947..117352255-chr12:117362016..117363854,2	K562	blood:
5	chr12:117313964..117316353-chr12:117381200..117383712,2	MCF-7	breast:
6	chr12:117348721..117350457-chr12:117364988..117367917,3	MCF-7	breast:
7	chr12:117384024..117385524-chr12:117385938..117388865,2	K562	blood:
8	chr12:117172130..117177322-chr12:117351344..117357214,6	MCF-7	breast:
9	chr12:117356337..117358081-chr12:117358101..117360193,2	K562	blood:
10	chr12:117348859..117352842-chr12:117353908..117358678,6	K562	blood:
11	chr12:117174103..117176051-chr12:117359023..117361386,2	MCF-7	breast:
12	chr12:117383644..117386038-chr12:117390452..117392333,2	K562	blood:
13	chr12:117369126..117371183-chr12:117378864..117381589,2	MCF-7	breast:
14	chr12:117375784..117377782-chr12:117384873..117386508,2	K562	blood:
15	chr12:117174363..117175916-chr12:117381728..117384041,2	MCF-7	breast:
16	chr12:117356337..117358081-chr12:117358101..117360193,2	K562	blood:
17	chr12:117354370..117355105-chr5:43556466..43557409,2	Hela-S3	cervix:
18	chr12:117384024..117385524-chr12:117385938..117388865,2	K562	blood:
19	chr12:117369008..117371802-chr12:117372806..117375152,2	K562	blood:
20	chr12:117359173..117361921-chr12:117365401..117367494,2	MCF-7	breast:
21	chr12:117356736..117358510-chr12:117362462..117364060,2	MCF-7	breast:
22	chr12:117373255..117375339-chr12:117377275..117379604,2	MCF-7	breast:
23	chr12:117356736..117358510-chr12:117362462..117364060,2	MCF-7	breast:
24	chr12:117363015..117363893-chr9:114658260..114659021,2	Hela-S3	cervix:
25	chr12:117354745..117356428-chr12:117360778..117362447,2	MCF-7	breast:
26	chr12:117364974..117366703-chr12:117369746..117372327,2	MCF-7	breast:
27	chr12:117354745..117356428-chr12:117360778..117362447,2	MCF-7	breast:
28	chr12:117341797..117344176-chr12:117354858..117357748,2	K562	blood:
29	chr12:117353167..117354718-chr12:117357426..117359453,2	MCF-7	breast:
30	chr12:117364974..117366703-chr12:117369746..117372327,2	MCF-7	breast:
31	chr12:117347119..117350335-chr12:117358899..117361773,3	K562	blood:
32	chr12:117174040..117175921-chr12:117353043..117354833,2	MCF-7	breast:
33	chr12:117353167..117354718-chr12:117357426..117359453,2	MCF-7	breast:
34	chr12:117356635..117358381-chr12:117361006..117362660,2	K562	blood:
35	chr12:117369008..117371802-chr12:117372806..117375152,2	K562	blood:
36	chr12:117251106..117253026-chr12:117352953..117355547,2	MCF-7	breast:
37	chr12:117369126..117371183-chr12:117378864..117381589,2	MCF-7	breast:
38	chr12:117375784..117377782-chr12:117384873..117386508,2	K562	blood:
39	chr12:117383644..117386038-chr12:117390452..117392333,2	K562	blood:
40	chr12:117371490..117373713-chr12:117436920..117439603,2	K562	blood:
41	chr12:117318715..117321135-chr12:117352737..117355322,2	MCF-7	breast:
42	chr12:117373255..117375339-chr12:117377275..117379604,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111412	chromatin interactions
ENSG00000174989	chromatin interactions
ENSG00000135116	chromatin interactions
ENSG00000135119	chromatin interactions
ENSG00000172239	chromatin interactions

Extended variants
information (count: 1437 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1437 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191459487	chr12:117354093-117354094	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs557026530	chr12:117354125-117354126	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs183194267	chr12:117354137-117354138	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs545779431	chr12:117354257-117354258	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs559121492	chr12:117354267-117354268	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs528775544	chr12:117354284-117354285	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs542564516	chr12:117354288-117354289	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs562232217	chr12:117354309-117354310	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs531138467	chr12:117354327-117354328	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs577714060	chr12:117354347-117354348	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs541084019	chr12:117354348-117354349	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs550750826	chr12:117354358-117354359	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs200695830	chr12:117354384-117354385	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs543610345	chr12:117354389-117354390	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs532566461	chr12:117354415-117354416	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs78871682	chr12:117354432-117354433	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs374165542	chr12:117354435-117354436	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs546956841	chr12:117354442-117354443	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs566780088	chr12:117354492-117354493	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs565619594	chr12:117354573-117354574	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs145868955	chr12:117354593-117354594	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs554455968	chr12:117354615-117354616	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs370843691	chr12:117354631-117354632	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs536850228	chr12:117354670-117354671	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs201093623	chr12:117354694-117354695	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs149537229	chr12:117354702-117354703	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs199590139	chr12:117354712-117354713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs563401472	chr12:117354714-117354715	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs112400380	chr12:117354715-117354716	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs112182660	chr12:117354716-117354717	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs59006120	chr12:117354717-117354718	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs61936968	chr12:117354718-117354719	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs200925694	chr12:117354720-117354721	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs60342386	chr12:117354732-117354733	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs61936969	chr12:117354733-117354734	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs187857771	chr12:117354759-117354760	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs12821492	chr12:117354785-117354786	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545610412	chr12:117354807-117354808	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs569630539	chr12:117354819-117354820	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs117297148	chr12:117354832-117354833	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs543035159	chr12:117354839-117354840	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs537346538	chr12:117354846-117354847	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs572895124	chr12:117354892-117354893	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs542501501	chr12:117354915-117354916	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs190899239	chr12:117354973-117354974	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs114355471	chr12:117354981-117354982	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs183188608	chr12:117354999-117355000	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs187830307	chr12:117355095-117355096	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs558857128	chr12:117355152-117355153	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs533441781	chr12:117355179-117355180	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:1670 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117349400-117354400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:117349600-117354200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:117349600-117354200	Weak transcription	Esophagus	oesophagus
4	chr12:117349600-117354400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:117349600-117363600	Weak transcription	Brain Anterior Caudate	brain
6	chr12:117349600-117364000	Weak transcription	Brain Angular Gyrus	brain
7	chr12:117349600-117365800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:117349800-117354400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:117349800-117354400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:117349800-117356000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:117349800-117362200	Weak transcription	Thymus	Thymus
12	chr12:117349800-117362400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:117349800-117363600	Weak transcription	Brain Substantia Nigra	brain
14	chr12:117349800-117363800	Weak transcription	Aorta	Aorta
15	chr12:117349800-117364000	Weak transcription	Adipose Nuclei	Adipose
16	chr12:117349800-117366000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:117349800-117366000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:117349800-117366000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:117349800-117371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:117350000-117354200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:117350000-117354200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:117350000-117354200	Weak transcription	GM12878-XiMat	blood
23	chr12:117350000-117356200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:117350000-117356400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:117350000-117356600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:117350000-117357000	Weak transcription	HUVEC	blood vessel
27	chr12:117350000-117358600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:117350000-117360000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:117350000-117363000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:117350000-117363800	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:117350000-117365400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:117350000-117366000	Weak transcription	Fetal Lung	lung
33	chr12:117350200-117354200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:117350200-117354200	Weak transcription	Left Ventricle	heart
35	chr12:117350200-117354400	Weak transcription	Fetal Intestine Large	intestine
36	chr12:117350200-117354400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:117350200-117356400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr12:117350200-117356400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:117350200-117357000	Weak transcription	Fetal Thymus	thymus
40	chr12:117350200-117358600	Weak transcription	Psoas Muscle	Psoas
41	chr12:117350200-117359800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:117350200-117362200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:117350200-117366000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:117350200-117366000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr12:117350200-117366800	Weak transcription	Spleen	Spleen
46	chr12:117350200-117367800	Weak transcription	Brain Germinal Matrix	brain
47	chr12:117350200-117371000	Weak transcription	Right Ventricle	heart
48	chr12:117350400-117356600	Weak transcription	Primary T cells from cord blood	blood
49	chr12:117350600-117370600	Weak transcription	Fetal Brain Male	brain
50	chr12:117350800-117354200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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