Variant report

Variant	rs10876042
Chromosome Location	chr12:50902077-50902078
allele	A/G
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:50901773..50903761-chr12:50910341..50913326,3	MCF-7	breast:
2	chr12:50900950..50904807-chr12:50918762..50923043,5	MCF-7	breast:
3	chr12:50900701..50902991-chr12:51029876..51032348,2	MCF-7	breast:
4	chr12:50897453..50902823-chr12:51156009..51160960,8	MCF-7	breast:
5	chr12:50899807..50901324-chr12:50901368..50903053,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIP2B-1	chr12:50902028-50902079	l_645_chr12:50890975-50903828_testes

No data

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10431486	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10431535	0.84[EUR][1000 genomes]
rs10444547	0.87[EUR][1000 genomes]
rs10459233	0.93[EUR][1000 genomes]
rs10459235	0.83[EUR][1000 genomes]
rs10506294	0.82[EUR][1000 genomes]
rs10506295	0.82[EUR][1000 genomes]
rs10747584	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10747585	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10747587	0.83[EUR][1000 genomes]
rs10783369	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10783370	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783371	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783372	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10783373	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10783374	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10783375	0.83[EUR][1000 genomes]
rs10783378	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10783381	0.88[EUR][1000 genomes]
rs10783382	0.83[EUR][1000 genomes]
rs10783383	0.83[EUR][1000 genomes]
rs10783384	0.82[EUR][1000 genomes]
rs10876043	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876047	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876051	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876052	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876053	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876056	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10876058	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10876060	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10876061	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10876063	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876064	0.82[AMR][1000 genomes]
rs10876065	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876070	0.88[EUR][1000 genomes]
rs10876071	0.88[EUR][1000 genomes]
rs10876072	0.88[EUR][1000 genomes]
rs10876073	0.87[EUR][1000 genomes]
rs10876075	0.85[EUR][1000 genomes]
rs10876076	0.85[EUR][1000 genomes]
rs11169457	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169479	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169480	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169483	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169487	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169493	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169498	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169505	0.87[EUR][1000 genomes]
rs11169507	0.88[EUR][1000 genomes]
rs11169515	0.83[EUR][1000 genomes]
rs11169528	0.83[EUR][1000 genomes]
rs11169532	0.82[EUR][1000 genomes]
rs11169537	0.82[EUR][1000 genomes]
rs11613488	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11615933	0.83[EUR][1000 genomes]
rs12230242	0.87[EUR][1000 genomes]
rs12231309	0.85[EUR][1000 genomes]
rs12231317	0.85[EUR][1000 genomes]
rs12580051	0.85[EUR][1000 genomes]
rs12582712	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12809086	0.82[EUR][1000 genomes]
rs12827022	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17124930	0.82[EUR][1000 genomes]
rs34867510	0.92[EUR][1000 genomes]
rs3893353	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3935138	0.83[EUR][1000 genomes]
rs3935869	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4131769	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4238106	0.88[EUR][1000 genomes]
rs4238108	0.82[EUR][1000 genomes]
rs4516034	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4617661	0.82[EUR][1000 genomes]
rs4768847	0.83[EUR][1000 genomes]
rs4768850	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768852	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4768853	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768858	0.85[EUR][1000 genomes]
rs4768884	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768888	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4768889	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768890	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4768892	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4768893	0.96[EUR][1000 genomes]
rs4768895	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768899	0.88[EUR][1000 genomes]
rs4768906	0.82[EUR][1000 genomes]
rs4768907	0.82[EUR][1000 genomes]
rs4768912	0.81[EUR][1000 genomes]
rs4768913	0.81[EUR][1000 genomes]
rs55680342	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55877451	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61926275	0.83[EUR][1000 genomes]
rs6580756	0.83[EUR][1000 genomes]
rs67092086	0.83[EUR][1000 genomes]
rs7134976	0.88[EUR][1000 genomes]
rs7138604	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7307419	0.88[EUR][1000 genomes]
rs7316864	0.83[EUR][1000 genomes]
rs7397999	0.83[EUR][1000 genomes]
rs7956591	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs876078	0.85[EUR][1000 genomes]
rs876079	0.85[EUR][1000 genomes]
rs952318	0.87[EUR][1000 genomes]
rs9788159	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50898200-50902200	Active TSS	Brain Angular Gyrus	brain
2	chr12:50899600-50903400	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr12:50899600-50903400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr12:50899800-50902600	Weak transcription	Lung	lung
5	chr12:50899800-50903600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr12:50900000-50902600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:50900000-50903000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:50900000-50903400	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr12:50900000-50903600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:50900000-50911000	Weak transcription	Colonic Mucosa	Colon
11	chr12:50900000-50911800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:50900000-50925400	Weak transcription	Esophagus	oesophagus
13	chr12:50900200-50902400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:50900200-50902600	Enhancers	Fetal Brain Male	brain
15	chr12:50900200-50902800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:50900200-50903400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:50900200-50903800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:50900200-50903800	Enhancers	Stomach Mucosa	stomach
19	chr12:50900200-50904400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:50900200-50904400	Weak transcription	Aorta	Aorta
21	chr12:50900200-50906800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:50900200-50911200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:50900400-50902200	Flanking Active TSS	HepG2	liver
24	chr12:50900400-50903000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:50900400-50904000	Enhancers	K562	blood
26	chr12:50900400-50910000	Weak transcription	Fetal Stomach	stomach
27	chr12:50900600-50902200	Enhancers	Thymus	Thymus
28	chr12:50900600-50902400	Flanking Active TSS	NHEK	skin
29	chr12:50900600-50902600	Enhancers	Colon Smooth Muscle	Colon
30	chr12:50900600-50903600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr12:50900600-50903800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr12:50900600-50904600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:50900600-50916400	Enhancers	Primary B cells from peripheral blood	blood
34	chr12:50900600-50932000	Weak transcription	Fetal Kidney	kidney
35	chr12:50900800-50902200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr12:50900800-50902400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:50900800-50902600	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:50900800-50902800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:50900800-50902800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr12:50900800-50903000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:50900800-50903200	Weak transcription	HSMMtube	muscle
42	chr12:50900800-50903600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:50900800-50908600	Weak transcription	Right Ventricle	heart
44	chr12:50900800-50911200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr12:50901000-50902800	Enhancers	A549	lung
46	chr12:50901000-50903400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:50901000-50903400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:50901000-50903400	Enhancers	Left Ventricle	heart
49	chr12:50901000-50903600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:50901000-50903600	Enhancers	Adipose Nuclei	Adipose

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