Variant report

Variant	rs73103008
Chromosome Location	chr12:40241416-40241417
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	chr12:40239652..40241691-chr12:40246024..40247653,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs4238078	0.89[ASN][1000 genomes]
rs4267135	0.89[ASN][1000 genomes]
rs4321021	0.89[ASN][1000 genomes]
rs4427625	0.89[ASN][1000 genomes]
rs4639999	0.89[ASN][1000 genomes]
rs4768181	0.89[ASN][1000 genomes]
rs4768182	0.89[ASN][1000 genomes]
rs56221715	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60002366	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581338	0.89[ASN][1000 genomes]
rs66924731	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67574032	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73103024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73103034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73104960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73104964	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73104976	0.93[EUR][1000 genomes]
rs73104985	0.93[EUR][1000 genomes]
rs73104987	0.93[EUR][1000 genomes]
rs73274668	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276518	1.00[ASN][1000 genomes]
rs74086925	1.00[ASN][1000 genomes]
rs7969296	0.89[ASN][1000 genomes]
rs7975209	0.89[ASN][1000 genomes]
rs9645805	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037457	chr12:39898349-40245401	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv541480	chr12:39898349-40245401	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1040628	chr12:40180398-40244001	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv899025	chr12:40191778-40321846	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1049214	chr12:40197549-40326495	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40193800-40255800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:40199200-40265400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:40209200-40268800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:40209400-40249800	Weak transcription	Aorta	Aorta
5	chr12:40213000-40248200	Weak transcription	Fetal Intestine Large	intestine
6	chr12:40216000-40246600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:40219800-40272600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:40222200-40259400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:40224400-40246600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:40226400-40275000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:40232600-40267800	Weak transcription	Liver	Liver
12	chr12:40233000-40259400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:40233000-40259800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:40233200-40250400	Weak transcription	Fetal Intestine Small	intestine
15	chr12:40233600-40257400	Weak transcription	Right Ventricle	heart
16	chr12:40234800-40245400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:40235200-40269200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:40239400-40242000	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:40239600-40241600	Enhancers	Primary B cells from cord blood	blood
20	chr12:40240400-40241600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:40240400-40264600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:40241000-40241600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:40241200-40246400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:40241400-40242800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:40241400-40246400	Weak transcription	Left Ventricle	heart
26	chr12:40241400-40246600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:40241400-40250000	Weak transcription	Lung	lung

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