Variant report

Variant	rs10783378
Chromosome Location	chr12:50987027-50987028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50974754..50976788-chr12:50985941..50989901,3	MCF-7	breast:
2	chr12:50984035..50986586-chr12:50986718..50989992,3	MCF-7	breast:

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10431486	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10431535	0.88[EUR][1000 genomes]
rs10444547	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10459233	0.97[EUR][1000 genomes]
rs10459234	0.82[EUR][1000 genomes]
rs10459235	0.85[EUR][1000 genomes]
rs10506294	0.85[EUR][1000 genomes]
rs10506295	0.84[EUR][1000 genomes]
rs10747584	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10747585	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10747587	0.85[EUR][1000 genomes]
rs10783369	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783370	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10783371	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10783372	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10783373	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783374	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783375	0.87[EUR][1000 genomes]
rs10783381	0.92[EUR][1000 genomes]
rs10783382	0.87[EUR][1000 genomes]
rs10783383	0.85[EUR][1000 genomes]
rs10783384	0.84[EUR][1000 genomes]
rs10876042	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876043	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10876047	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10876051	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876052	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876053	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876056	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10876058	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10876060	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876061	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876063	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876064	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10876065	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10876067	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10876068	0.82[ASN][1000 genomes]
rs10876070	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876071	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876072	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10876073	0.91[EUR][1000 genomes]
rs10876075	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10876076	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11169457	0.84[EUR][1000 genomes]
rs11169479	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169480	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169481	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169483	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169487	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169493	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169498	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169505	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169507	0.92[EUR][1000 genomes]
rs11169515	0.87[EUR][1000 genomes]
rs11169528	0.85[EUR][1000 genomes]
rs11169532	0.84[EUR][1000 genomes]
rs11169537	0.84[EUR][1000 genomes]
rs11169538	0.81[EUR][1000 genomes]
rs11169539	0.81[EUR][1000 genomes]
rs11613488	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11615933	0.85[EUR][1000 genomes]
rs12230242	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12231309	0.89[EUR][1000 genomes]
rs12231317	0.89[EUR][1000 genomes]
rs12580051	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12582712	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12809086	0.85[EUR][1000 genomes]
rs12827022	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17124930	0.84[EUR][1000 genomes]
rs34867510	0.96[EUR][1000 genomes]
rs35845404	0.81[EUR][1000 genomes]
rs3742063	0.81[EUR][1000 genomes]
rs3742064	0.81[EUR][1000 genomes]
rs3825402	0.81[EUR][1000 genomes]
rs3893353	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3935138	0.87[EUR][1000 genomes]
rs3935869	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4131769	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4238106	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4238108	0.85[EUR][1000 genomes]
rs4516034	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4617661	0.82[EUR][1000 genomes]
rs4768847	0.82[EUR][1000 genomes]
rs4768850	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768852	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4768853	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768858	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4768884	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768888	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768889	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768890	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768892	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4768893	1.00[EUR][1000 genomes]
rs4768895	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768899	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768906	0.85[EUR][1000 genomes]
rs4768907	0.84[EUR][1000 genomes]
rs4768911	0.81[EUR][1000 genomes]
rs4768912	0.84[EUR][1000 genomes]
rs4768913	0.84[EUR][1000 genomes]
rs4768914	0.80[EUR][1000 genomes]
rs55680342	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55877451	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61926275	0.85[EUR][1000 genomes]
rs6580756	0.81[EUR][1000 genomes]
rs67092086	0.87[EUR][1000 genomes]
rs7134976	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7138604	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7307419	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7316864	0.87[EUR][1000 genomes]
rs7397999	0.87[EUR][1000 genomes]
rs7956591	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs876078	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs876079	0.89[EUR][1000 genomes]
rs952318	0.91[EUR][1000 genomes]
rs9788159	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv1816169	chr12:50973897-51002088	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv1817171	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1821299	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1822840	chr12:50973897-51015509	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50967400-50991200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:50967400-50991200	Weak transcription	Aorta	Aorta
3	chr12:50968800-50989000	Weak transcription	Fetal Intestine Small	intestine
4	chr12:50968800-50997400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:50969600-50997400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:50969800-50989600	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:50974000-51011800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:50975600-50991200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:50975800-50989400	Weak transcription	HepG2	liver
10	chr12:50975800-50990200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:50975800-50991400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:50976000-50993400	Weak transcription	Fetal Lung	lung
13	chr12:50976200-50991200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:50977800-50989400	Weak transcription	Brain Angular Gyrus	brain
15	chr12:50977800-50990400	Weak transcription	Left Ventricle	heart
16	chr12:50978000-50991200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:50979200-50989200	Weak transcription	Brain Anterior Caudate	brain
18	chr12:50979200-50991200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:50979200-51013800	Weak transcription	Fetal Stomach	stomach
20	chr12:50979400-50991200	Weak transcription	Right Ventricle	heart
21	chr12:50979400-50991600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:50979400-50997200	Weak transcription	Pancreas	Pancrea
23	chr12:50979400-50997200	Weak transcription	Spleen	Spleen
24	chr12:50979600-50988800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:50979600-50991400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr12:50979800-50991000	Weak transcription	A549	lung
27	chr12:50980000-50989600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:50980000-50991200	Weak transcription	Primary B cells from cord blood	blood
29	chr12:50980400-50988800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:50981200-50989600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:50981400-50991200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:50981400-50997400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:50981800-50991200	Weak transcription	Liver	Liver
34	chr12:50982600-50987800	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:50983600-50990200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:50983600-50991000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:50983600-50991200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:50983600-50991200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:50983600-50991200	Weak transcription	NHLF	lung
40	chr12:50983600-50991600	Weak transcription	HSMMtube	muscle
41	chr12:50983800-50987800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:50983800-50989800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:50983800-50991000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:50983800-50991200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr12:50983800-50991200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:50983800-50991200	Weak transcription	GM12878-XiMat	blood
47	chr12:50983800-50991400	Weak transcription	Adipose Nuclei	Adipose
48	chr12:50984000-50989200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:50984000-50990200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:50984000-50991000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links