Variant report

Variant	rs10783367
Chromosome Location	chr12:50915436-50915437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50899387..50901154-chr12:50914806..50917491,2	K562	blood:
2	chr12:50914662..50917343-chr12:51156588..51158199,2	MCF-7	breast:
3	chr12:50897995..50901644-chr12:50914881..50918045,5	MCF-7	breast:
4	chr12:50914316..50916819-chr12:51030767..51032473,2	MCF-7	breast:
5	chr12:50898591..50900268-chr12:50914526..50916189,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066084	Chromatin interaction
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10735826	0.96[ASN][1000 genomes]
rs10747586	0.84[EUR][1000 genomes]
rs10783368	0.97[ASN][1000 genomes]
rs10783377	0.82[EUR][1000 genomes]
rs10876041	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876044	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876046	0.89[EUR][1000 genomes]
rs10876048	0.92[ASN][1000 genomes]
rs10876054	0.95[ASN][1000 genomes]
rs10876057	0.92[ASN][1000 genomes]
rs11609231	0.86[EUR][1000 genomes]
rs11611288	0.89[EUR][1000 genomes]
rs11614911	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11832315	0.85[EUR][1000 genomes]
rs12099615	0.92[ASN][1000 genomes]
rs12320201	0.88[ASN][1000 genomes]
rs12817256	0.92[ASN][1000 genomes]
rs12821270	0.90[EUR][1000 genomes]
rs13328926	0.96[ASN][1000 genomes]
rs1402693	0.80[ASN][1000 genomes]
rs28414775	0.92[ASN][1000 genomes]
rs28479152	0.96[ASN][1000 genomes]
rs4129355	0.90[ASN][1000 genomes]
rs4306347	0.94[ASN][1000 genomes]
rs4517607	0.86[ASN][1000 genomes]
rs4562889	0.80[ASN][1000 genomes]
rs4768848	0.88[ASN][1000 genomes]
rs4768885	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768886	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768887	0.91[ASN][1000 genomes]
rs4768894	0.86[ASN][1000 genomes]
rs55939211	0.86[EUR][1000 genomes]
rs56089074	0.85[EUR][1000 genomes]
rs56104942	0.87[EUR][1000 genomes]
rs56753963	0.88[ASN][1000 genomes]
rs57512759	0.95[ASN][1000 genomes]
rs59194948	0.88[ASN][1000 genomes]
rs59683461	0.91[ASN][1000 genomes]
rs60239257	0.87[ASN][1000 genomes]
rs60494920	0.97[ASN][1000 genomes]
rs66597435	0.85[EUR][1000 genomes]
rs66644594	0.86[EUR][1000 genomes]
rs67701624	0.86[EUR][1000 genomes]
rs68171620	0.85[EUR][1000 genomes]
rs7131795	0.85[EUR][1000 genomes]
rs7131993	0.97[ASN][1000 genomes]
rs7135222	0.91[ASN][1000 genomes]
rs7300979	0.84[EUR][1000 genomes]
rs7301125	0.90[ASN][1000 genomes]
rs7302749	0.97[ASN][1000 genomes]
rs7306387	0.80[ASN][1000 genomes]
rs7307815	0.86[EUR][1000 genomes]
rs7487645	0.90[ASN][1000 genomes]
rs7953880	0.95[ASN][1000 genomes]
rs7955310	0.92[ASN][1000 genomes]
rs7957060	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7978443	0.95[ASN][1000 genomes]
rs7979184	0.94[ASN][1000 genomes]
rs9634264	0.92[ASN][1000 genomes]
rs9738596	0.87[ASN][1000 genomes]
rs9804759	0.90[ASN][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10783367	LASS5	cis	multi-tissue	Pritchard
rs10783367	CERS5	cis	Nerve Tibial	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50900000-50925400	Weak transcription	Esophagus	oesophagus
2	chr12:50900600-50916400	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:50900600-50932000	Weak transcription	Fetal Kidney	kidney
4	chr12:50901400-50925600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:50901600-50915600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:50903400-50925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:50903600-50922800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:50906400-50915600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:50906400-50916400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:50907400-50917800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:50908800-50915600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr12:50909000-50919800	Weak transcription	Right Ventricle	heart
13	chr12:50909000-50925400	Weak transcription	Lung	lung
14	chr12:50910800-50925400	Weak transcription	Placenta	Placenta
15	chr12:50911400-50916200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:50911400-50919400	Weak transcription	Fetal Brain Female	brain
17	chr12:50911400-50924200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:50911400-50926400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:50911600-50919400	Weak transcription	Fetal Brain Male	brain
20	chr12:50911600-50919600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:50911600-50920800	Weak transcription	Fetal Intestine Large	intestine
22	chr12:50911600-50939800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:50911800-50917800	Weak transcription	Thymus	Thymus
24	chr12:50911800-50920000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:50912000-50916000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:50912000-50916000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:50912000-50917800	Weak transcription	Fetal Lung	lung
28	chr12:50912000-50918200	Weak transcription	Fetal Intestine Small	intestine
29	chr12:50912000-50919200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:50912000-50919200	Weak transcription	Stomach Mucosa	stomach
31	chr12:50912000-50919800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:50912000-50920400	Weak transcription	Fetal Stomach	stomach
33	chr12:50912000-50920800	Weak transcription	Hela-S3	cervix
34	chr12:50912000-50922800	Weak transcription	Psoas Muscle	Psoas
35	chr12:50912000-50923000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:50912000-50924200	Weak transcription	HMEC	breast
37	chr12:50912000-50925400	Weak transcription	Dnd41	blood
38	chr12:50912000-50926000	Weak transcription	Osteobl	bone
39	chr12:50912000-50926400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:50912200-50916200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:50912200-50918200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:50912200-50918200	Weak transcription	K562	blood
43	chr12:50912200-50925200	Weak transcription	HUVEC	blood vessel
44	chr12:50912600-50918400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:50912600-50919200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:50912600-50919800	Weak transcription	A549	lung
47	chr12:50912600-50922800	Weak transcription	Small Intestine	intestine
48	chr12:50912800-50916200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:50912800-50918400	Weak transcription	Spleen	Spleen
50	chr12:50912800-50922400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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