Variant report

Variant	rs12228187
Chromosome Location	chr12:121090946-121090947
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	chr12:121074234..121078810-chr12:121086912..121091656,5	K562	blood:
2	chr12:121082536..121084918-chr12:121088940..121091677,2	K562	blood:

Variant related genes	Relation type
ENSG00000256008	Chromatin interaction
ENSG00000157782	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10431372	0.86[EUR][1000 genomes]
rs10431383	0.86[EUR][1000 genomes]
rs10774564	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs10774565	0.94[CHB][hapmap];0.90[ASN][1000 genomes]
rs10849774	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849775	0.89[ASN][1000 genomes]
rs10849780	0.86[EUR][1000 genomes]
rs10849781	0.86[EUR][1000 genomes]
rs11065183	0.85[ASN][1000 genomes]
rs11065184	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065188	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065189	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065191	0.93[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065192	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065193	0.90[ASN][1000 genomes]
rs11065194	0.93[CHB][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065195	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065196	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065197	0.94[CHB][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065198	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065199	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065204	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065205	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065214	0.86[EUR][1000 genomes]
rs11065215	0.86[EUR][1000 genomes]
rs11065217	0.86[EUR][1000 genomes]
rs11065220	0.86[EUR][1000 genomes]
rs11065221	0.86[EUR][1000 genomes]
rs11065224	0.86[EUR][1000 genomes]
rs11065229	0.86[EUR][1000 genomes]
rs11065234	0.86[EUR][1000 genomes]
rs11065235	0.80[CHB][hapmap];0.86[EUR][1000 genomes]
rs11065240	0.82[CHB][hapmap]
rs11065241	0.80[CHB][hapmap]
rs11065242	0.80[CHB][hapmap]
rs11065244	0.86[EUR][1000 genomes]
rs12228118	0.86[EUR][1000 genomes]
rs12229164	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12229181	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12231499	0.86[EUR][1000 genomes]
rs12310160	0.94[CHB][hapmap];0.90[ASN][1000 genomes]
rs17848090	0.86[EUR][1000 genomes]
rs2071266	0.86[EUR][1000 genomes]
rs2229534	0.86[EUR][1000 genomes]
rs2239687	0.86[EUR][1000 genomes]
rs2239757	0.86[EUR][1000 genomes]
rs2239759	0.86[EUR][1000 genomes]
rs3751166	0.86[EUR][1000 genomes]
rs3809310	0.93[CHB][hapmap];0.83[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3809311	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302002	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7956304	0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs7973568	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121087200-121091000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:121087600-121096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:121087800-121093000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:121088200-121092000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:121089000-121091600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:121089000-121092400	Enhancers	Colon Smooth Muscle	Colon
7	chr12:121089400-121091000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:121089600-121093000	Enhancers	Adipose Nuclei	Adipose
9	chr12:121089800-121091000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:121089800-121095400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:121090000-121091200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:121090000-121092800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
13	chr12:121090000-121097000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:121090000-121106000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:121090200-121091000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr12:121090200-121093000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr12:121090400-121091000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr12:121090400-121091000	Bivalent Enhancer	Brain Germinal Matrix	brain
19	chr12:121090400-121091200	Enhancers	Brain Cingulate Gyrus	brain
20	chr12:121090400-121091200	Enhancers	Brain Hippocampus Middle	brain
21	chr12:121090400-121093000	Enhancers	Placenta	Placenta
22	chr12:121090400-121093000	Enhancers	Left Ventricle	heart
23	chr12:121090600-121091000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:121090600-121091000	Enhancers	Brain Anterior Caudate	brain
25	chr12:121090600-121091000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
26	chr12:121090600-121092000	Enhancers	GM12878-XiMat	blood
27	chr12:121090600-121093000	Enhancers	Spleen	Spleen
28	chr12:121090800-121091000	Bivalent Enhancer	Fetal Brain Male	brain
29	chr12:121090800-121091000	Enhancers	Psoas Muscle	Psoas
30	chr12:121090800-121091200	Weak transcription	Right Ventricle	heart
31	chr12:121090800-121091600	Weak transcription	Right Atrium	heart
32	chr12:121090800-121092000	Enhancers	Brain Angular Gyrus	brain
33	chr12:121090800-121092800	Enhancers	Skeletal Muscle Female	skeletal muscle

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