Variant report

Variant	rs60424338
Chromosome Location	chr12:123555929-123555930
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123555442..123558076-chr12:123754275..123756423,2	MCF-7	breast:
2	chr12:123547555..123551371-chr12:123552619..123557163,4	MCF-7	breast:
3	chr12:123553968..123556453-chr12:123717146..123719567,3	MCF-7	breast:
4	chr12:123538842..123542281-chr12:123553945..123556285,3	MCF-7	breast:
5	chr12:123553938..123556177-chr12:123569244..123571363,2	MCF-7	breast:
6	chr12:123465092..123467945-chr12:123554605..123556337,2	K562	blood:
7	chr12:123554268..123556802-chr12:123557942..123561055,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182196	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000090975	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000051825	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs4427600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55820451	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55992397	0.80[AFR][1000 genomes]
rs56846082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57178349	0.82[AFR][1000 genomes]
rs58282663	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58490757	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59995499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60167440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60200203	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60235187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60320128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60546720	0.80[AFR][1000 genomes]
rs60894374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61089898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61110645	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61396549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411090	0.82[AFR][1000 genomes]
rs73411093	0.81[AFR][1000 genomes]
rs73413223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413226	0.82[AFR][1000 genomes]
rs73413228	0.82[AFR][1000 genomes]
rs73413230	0.82[AFR][1000 genomes]
rs73413241	0.82[AFR][1000 genomes]
rs73413246	0.82[AFR][1000 genomes]
rs7964036	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv560494	chr12:123478378-123560731	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123542800-123563800	Enhancers	Left Ventricle	heart
2	chr12:123543800-123559000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:123544000-123559000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:123546400-123562400	Enhancers	Liver	Liver
5	chr12:123549600-123561000	Weak transcription	Hela-S3	cervix
6	chr12:123549800-123560000	Weak transcription	Stomach Mucosa	stomach
7	chr12:123550000-123559800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
8	chr12:123550000-123562400	Enhancers	Fetal Heart	heart
9	chr12:123550600-123559400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:123551000-123559000	Weak transcription	Primary B cells from cord blood	blood
11	chr12:123551000-123559200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:123551000-123560200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:123551200-123560400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:123551200-123561800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:123551400-123556200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:123551400-123557600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:123551600-123557800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:123553200-123556000	Enhancers	Fetal Intestine Small	intestine
19	chr12:123553200-123556200	Enhancers	Gastric	stomach
20	chr12:123553200-123556600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr12:123553400-123557400	Enhancers	Lung	lung
22	chr12:123553600-123560000	Transcr. at gene 5' and 3'	Thymus	Thymus
23	chr12:123553800-123556400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:123553800-123556800	Enhancers	Adipose Nuclei	Adipose
25	chr12:123553800-123557400	Enhancers	Brain Cingulate Gyrus	brain
26	chr12:123553800-123563800	Enhancers	Right Ventricle	heart
27	chr12:123554000-123556400	Enhancers	HMEC	breast
28	chr12:123554000-123557000	Enhancers	Spleen	Spleen
29	chr12:123554000-123559200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr12:123554000-123563000	Enhancers	Right Atrium	heart
31	chr12:123554000-123563800	Enhancers	Brain Hippocampus Middle	brain
32	chr12:123554200-123556000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:123554200-123557400	Enhancers	Brain Angular Gyrus	brain
34	chr12:123554200-123557400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:123554200-123557400	Enhancers	Fetal Muscle Leg	muscle
36	chr12:123554400-123556000	Enhancers	Ovary	ovary
37	chr12:123554400-123556600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:123554400-123556800	Enhancers	Fetal Muscle Trunk	muscle
39	chr12:123554400-123557000	Enhancers	Stomach Smooth Muscle	stomach
40	chr12:123554400-123557200	Enhancers	Brain Anterior Caudate	brain
41	chr12:123554400-123557400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr12:123554400-123557600	Enhancers	Esophagus	oesophagus
43	chr12:123554400-123558400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr12:123554400-123560400	Enhancers	Colon Smooth Muscle	Colon
45	chr12:123554600-123556200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:123554600-123556800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:123554600-123556800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:123554600-123556800	Enhancers	NHEK	skin
49	chr12:123554600-123557000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr12:123554600-123557000	Enhancers	Rectal Smooth Muscle	rectum

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