Variant report

Variant	rs60105910
Chromosome Location	chr12:9242885-9242886
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9240287..9243036-chr12:9243871..9246736,2	K562	blood:

Variant related genes	Relation type
ENSG00000175899	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11831631	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11831793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11832509	1.00[AMR][1000 genomes]
rs11833184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11833893	1.00[AMR][1000 genomes]
rs1805684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1805686	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1805694	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3026223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3026224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3026228	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3026231	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35040316	1.00[AMR][1000 genomes]
rs57018529	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58097118	1.00[AMR][1000 genomes]
rs58565807	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60289110	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73240200	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73240201	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241907	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246318	1.00[AMR][1000 genomes]
rs73246327	1.00[AMR][1000 genomes]
rs73246334	1.00[AMR][1000 genomes]
rs73246337	1.00[AMR][1000 genomes]
rs73246344	1.00[AMR][1000 genomes]
rs73246352	1.00[AMR][1000 genomes]
rs73246383	1.00[AMR][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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9218200-9266200	Weak transcription	Fetal Kidney	kidney
2	chr12:9219200-9266000	Weak transcription	Esophagus	oesophagus
3	chr12:9230800-9243600	Weak transcription	Colonic Mucosa	Colon
4	chr12:9232200-9264600	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:9232400-9244600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:9235000-9253600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:9235200-9243000	Weak transcription	Lung	lung
8	chr12:9235200-9265800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:9236600-9258800	Weak transcription	Fetal Heart	heart
10	chr12:9236800-9243200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:9237200-9252200	Weak transcription	Psoas Muscle	Psoas
12	chr12:9237200-9261200	Strong transcription	Liver	Liver
13	chr12:9237200-9265200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:9237400-9264200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:9237600-9246000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:9237800-9258400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:9238600-9246800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:9238600-9265800	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:9238800-9246600	Strong transcription	Stomach Smooth Muscle	stomach
20	chr12:9239400-9262800	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:9239400-9264000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:9239600-9243000	Strong transcription	HepG2	liver
23	chr12:9239600-9265000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:9240600-9243800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:9240800-9267600	Weak transcription	Fetal Intestine Large	intestine
26	chr12:9241000-9244000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:9241000-9246600	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:9241200-9243400	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:9241200-9246000	Strong transcription	Left Ventricle	heart
30	chr12:9241200-9247000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:9241200-9262800	Strong transcription	Adipose Nuclei	Adipose
32	chr12:9241600-9264000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:9242000-9243600	Weak transcription	Fetal Lung	lung
34	chr12:9242400-9246800	Strong transcription	Aorta	Aorta
35	chr12:9242400-9247000	Strong transcription	Ovary	ovary
36	chr12:9242600-9243000	Enhancers	GM12878-XiMat	blood
37	chr12:9242600-9245400	Strong transcription	Rectal Smooth Muscle	rectum
38	chr12:9242600-9246200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr12:9242800-9243400	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:9242800-9243600	Strong transcription	Right Ventricle	heart
41	chr12:9242800-9245200	Strong transcription	Gastric	stomach
42	chr12:9242800-9245600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:9242800-9246000	Strong transcription	Placenta	Placenta
44	chr12:9242800-9246800	Strong transcription	Fetal Stomach	stomach
45	chr12:9242800-9246800	Strong transcription	Spleen	Spleen

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