Variant report

Variant	rs4129848
Chromosome Location	chr12:104755243-104755244
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104749005..104751520-chr12:104753750..104756278,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10778322	0.82[JPT][hapmap]
rs11112009	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112011	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112012	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610799	0.82[JPT][hapmap]
rs11610993	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611385	0.82[JPT][hapmap]
rs11612389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615219	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829691	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17035401	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35359688	0.92[EUR][1000 genomes]
rs4382975	0.95[ASN][1000 genomes]
rs7138318	0.82[JPT][hapmap]
rs73181910	0.92[EUR][1000 genomes]
rs73181913	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73181918	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73181933	1.00[EUR][1000 genomes];1.00[ASN][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	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104721800-104760000	Weak transcription	Stomach Mucosa	stomach
2	chr12:104745000-104761400	Weak transcription	Psoas Muscle	Psoas
3	chr12:104746000-104756800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:104746200-104761200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:104746200-104763000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:104747800-104756000	Weak transcription	Aorta	Aorta
7	chr12:104748400-104761000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:104749000-104758600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:104749000-104762800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:104749000-104763200	Weak transcription	Primary T cells from cord blood	blood
11	chr12:104749000-104765800	Weak transcription	Thymus	Thymus
12	chr12:104749200-104763000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:104749200-104763400	Weak transcription	HUVEC	blood vessel
14	chr12:104749800-104769400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:104750400-104764800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:104751400-104761000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:104753800-104765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:104754400-104761400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:104754400-104764800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:104754600-104761000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:104754800-104755400	Enhancers	Placenta	Placenta
22	chr12:104754800-104755600	Enhancers	Hela-S3	cervix
23	chr12:104755000-104755400	Enhancers	Fetal Heart	heart
24	chr12:104755000-104755800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:104755000-104758400	Weak transcription	A549	lung
26	chr12:104755000-104760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:104755200-104755400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:104755200-104755400	Enhancers	Left Ventricle	heart
29	chr12:104755200-104755400	Enhancers	HSMM	muscle
30	chr12:104755200-104755400	Enhancers	Osteobl	bone

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