Variant report

Variant	rs57366988
Chromosome Location	chr12:123240297-123240298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123238831..123241480-chr12:123248659..123252365,6	K562	blood:
2	chr12:123106486..123108264-chr12:123238733..123241698,2	K562	blood:
3	chr12:123235308..123239495-chr12:123239510..123247125,14	MCF-7	breast:
4	chr12:123237859..123240331-chr12:123248659..123250733,2	K562	blood:
5	chr12:123236060..123239548-chr12:123239608..123242338,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139726	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10466883	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10466884	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11059711	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11059724	0.94[ASN][1000 genomes]
rs11059834	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11059932	0.92[ASN][1000 genomes]
rs11059953	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11059954	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12298293	0.82[ASN][1000 genomes]
rs12302287	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12303150	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12303270	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12303951	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12305822	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12307038	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12310386	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310901	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12312837	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12313538	0.82[ASN][1000 genomes]
rs12313600	0.82[ASN][1000 genomes]
rs12315520	0.82[ASN][1000 genomes]
rs12316263	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12318871	0.82[ASN][1000 genomes]
rs12319160	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12321100	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12321556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1260120	0.92[ASN][1000 genomes]
rs1671679	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1671688	0.92[ASN][1000 genomes]
rs1696320	0.91[ASN][1000 genomes]
rs2253504	0.92[ASN][1000 genomes]
rs2649902	0.94[ASN][1000 genomes]
rs2936730	0.90[ASN][1000 genomes]
rs3817095	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60469279	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61176973	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6489240	0.91[ASN][1000 genomes]
rs652533	0.93[ASN][1000 genomes]
rs701484	0.89[ASN][1000 genomes]
rs7138436	0.92[ASN][1000 genomes]
rs7311386	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7486414	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7966971	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs839363	0.91[ASN][1000 genomes]
rs9645762	0.92[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	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123238200-123242600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:123238200-123249400	Weak transcription	Aorta	Aorta
3	chr12:123238400-123241200	Weak transcription	Ovary	ovary
4	chr12:123238400-123243000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:123238400-123258000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr12:123238600-123240400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr12:123238600-123240800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:123238600-123242400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:123238600-123245200	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:123238600-123248400	Weak transcription	Right Ventricle	heart
11	chr12:123238600-123249000	Weak transcription	Fetal Heart	heart
12	chr12:123238600-123250800	Weak transcription	Stomach Mucosa	stomach
13	chr12:123238600-123255600	Strong transcription	Fetal Intestine Large	intestine
14	chr12:123238600-123255800	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr12:123238600-123258800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:123238800-123240400	Genic enhancers	NHEK	skin
17	chr12:123238800-123240600	Weak transcription	Fetal Intestine Small	intestine
18	chr12:123238800-123240600	Weak transcription	Left Ventricle	heart
19	chr12:123238800-123241000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:123238800-123241000	Weak transcription	HSMMtube	muscle
21	chr12:123238800-123241400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:123238800-123241600	Strong transcription	Fetal Stomach	stomach
23	chr12:123238800-123242000	Strong transcription	Psoas Muscle	Psoas
24	chr12:123238800-123242200	Weak transcription	Gastric	stomach
25	chr12:123238800-123242400	Weak transcription	Small Intestine	intestine
26	chr12:123238800-123242600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:123238800-123242600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:123238800-123242600	Weak transcription	Colonic Mucosa	Colon
29	chr12:123238800-123242600	Weak transcription	Spleen	Spleen
30	chr12:123238800-123243200	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:123238800-123243400	Strong transcription	Brain Substantia Nigra	brain
32	chr12:123238800-123244000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:123238800-123244200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:123238800-123244600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:123238800-123245000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:123238800-123245200	Strong transcription	Fetal Lung	lung
37	chr12:123238800-123245400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:123238800-123245400	Weak transcription	Esophagus	oesophagus
39	chr12:123238800-123245600	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr12:123238800-123245600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:123238800-123246000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr12:123238800-123246000	Weak transcription	Pancreas	Pancrea
43	chr12:123238800-123246200	Strong transcription	Brain Cingulate Gyrus	brain
44	chr12:123238800-123246400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:123238800-123246600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:123238800-123255600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr12:123238800-123255600	Strong transcription	Fetal Muscle Leg	muscle
48	chr12:123238800-123255800	Strong transcription	Primary B cells from cord blood	blood
49	chr12:123238800-123255800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:123238800-123255800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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