Variant report

Variant	rs10783369
Chromosome Location	chr12:50930475-50930476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50930328..50933130-chr12:51007851..51010241,3	MCF-7	breast:
2	chr12:50898078..50900337-chr12:50929894..50932769,2	MCF-7	breast:
3	chr12:50926579..50928860-chr12:50929720..50933357,5	MCF-7	breast:
4	chr12:50930402..50933095-chr12:50933861..50936403,2	K562	blood:

Variant related genes	Relation type
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10431486	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10431535	0.87[EUR][1000 genomes]
rs10444547	0.90[EUR][1000 genomes]
rs10459233	0.96[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	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10747585	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10747587	0.85[EUR][1000 genomes]
rs10783370	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10783371	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10783372	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783373	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783374	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783375	0.86[EUR][1000 genomes]
rs10783378	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783381	0.91[EUR][1000 genomes]
rs10783382	0.86[EUR][1000 genomes]
rs10783383	0.85[EUR][1000 genomes]
rs10783384	0.84[EUR][1000 genomes]
rs10876042	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876043	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876051	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876052	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876053	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876056	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876058	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876060	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876061	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876063	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876064	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10876065	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876067	0.80[ASN][1000 genomes]
rs10876070	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10876071	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10876072	0.91[EUR][1000 genomes]
rs10876073	0.90[EUR][1000 genomes]
rs10876075	0.89[EUR][1000 genomes]
rs10876076	0.89[EUR][1000 genomes]
rs11169457	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11169479	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169480	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169481	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169483	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169487	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169493	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169498	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169505	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169507	0.91[EUR][1000 genomes]
rs11169515	0.86[EUR][1000 genomes]
rs11169528	0.85[EUR][1000 genomes]
rs11169532	0.84[EUR][1000 genomes]
rs11169537	0.84[EUR][1000 genomes]
rs11169538	0.80[EUR][1000 genomes]
rs11169539	0.80[EUR][1000 genomes]
rs11613488	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11615933	0.85[EUR][1000 genomes]
rs12230242	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12231309	0.88[EUR][1000 genomes]
rs12231317	0.89[EUR][1000 genomes]
rs12580051	0.89[EUR][1000 genomes]
rs12582712	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12809086	0.85[EUR][1000 genomes]
rs12827022	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17124930	0.84[EUR][1000 genomes]
rs34867510	0.95[EUR][1000 genomes]
rs35845404	0.80[EUR][1000 genomes]
rs3742063	0.80[EUR][1000 genomes]
rs3742064	0.80[EUR][1000 genomes]
rs3825402	0.81[EUR][1000 genomes]
rs3893353	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3935138	0.86[EUR][1000 genomes]
rs3935869	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4131769	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4238106	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4238108	0.85[EUR][1000 genomes]
rs4516034	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4617661	0.81[EUR][1000 genomes]
rs4768847	0.81[EUR][1000 genomes]
rs4768850	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768852	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768853	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768858	0.89[EUR][1000 genomes]
rs4768884	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4768888	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768889	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768890	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768892	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768893	0.99[EUR][1000 genomes]
rs4768895	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768899	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4768906	0.84[EUR][1000 genomes]
rs4768907	0.84[EUR][1000 genomes]
rs4768911	0.81[EUR][1000 genomes]
rs4768912	0.83[EUR][1000 genomes]
rs4768913	0.83[EUR][1000 genomes]
rs55680342	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55877451	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61926275	0.85[EUR][1000 genomes]
rs6580756	0.81[EUR][1000 genomes]
rs67092086	0.86[EUR][1000 genomes]
rs7134976	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7138604	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7307419	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7316864	0.86[EUR][1000 genomes]
rs7397999	0.86[EUR][1000 genomes]
rs7956591	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs876078	0.89[EUR][1000 genomes]
rs876079	0.89[EUR][1000 genomes]
rs952318	0.90[EUR][1000 genomes]
rs9788159	0.89[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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50900600-50932000	Weak transcription	Fetal Kidney	kidney
2	chr12:50911600-50939800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:50916400-50931600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:50918800-50938400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:50920200-50939600	Weak transcription	Fetal Heart	heart
6	chr12:50920400-50931400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:50920800-50939400	Weak transcription	Fetal Brain Female	brain
8	chr12:50920800-50939800	Weak transcription	Fetal Brain Male	brain
9	chr12:50920800-50962400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:50921000-50939400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:50921000-50940200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:50921200-50939800	Weak transcription	Brain Germinal Matrix	brain
13	chr12:50923400-50939800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:50923600-50939600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:50924400-50931400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:50925400-50931000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:50926600-50931000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:50926600-50931200	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:50926600-50931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:50926600-50932000	Weak transcription	Lung	lung
21	chr12:50926600-50939200	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:50926800-50931200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:50926800-50931200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:50926800-50931200	Weak transcription	Brain Angular Gyrus	brain
25	chr12:50926800-50931200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:50927200-50931000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:50927200-50931000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:50927200-50931200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:50927200-50931200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:50927200-50931600	Weak transcription	Right Ventricle	heart
31	chr12:50927200-50957600	Weak transcription	Fetal Lung	lung
32	chr12:50927400-50930600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:50927400-50931000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:50927400-50931000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:50927400-50931200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:50927400-50931200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:50927400-50931200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:50927400-50931200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:50927400-50931200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:50927400-50931200	Weak transcription	Brain Anterior Caudate	brain
41	chr12:50927400-50931600	Weak transcription	Adipose Nuclei	Adipose
42	chr12:50927400-50931800	Weak transcription	Gastric	stomach
43	chr12:50927400-50931800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr12:50927400-50932000	Weak transcription	Colonic Mucosa	Colon
45	chr12:50927400-50935400	Weak transcription	Esophagus	oesophagus
46	chr12:50927400-50936000	Weak transcription	HSMMtube	muscle
47	chr12:50927400-50936600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr12:50927400-50938600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:50927400-50939200	Weak transcription	Psoas Muscle	Psoas
50	chr12:50927400-50939600	Weak transcription	Thymus	Thymus

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