Variant report

Variant	rs554839
Chromosome Location	chr15:33234343-33234344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:33232993..33235695-chr15:33238081..33239940,2	K562	blood:

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

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

rs_ID	r²[population]
rs10048026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1258764	1.00[AMR][1000 genomes]
rs1258768	1.00[AMR][1000 genomes]
rs2956150	0.92[YRI][hapmap]
rs347916	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347917	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347918	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs347919	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347920	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347928	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs347929	1.00[AMR][1000 genomes]
rs347947	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347948	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347949	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347953	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs347954	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs347955	0.92[YRI][hapmap]
rs35530263	0.87[AFR][1000 genomes]
rs556825	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7179708	1.00[AMR][1000 genomes]
rs74012232	1.00[AMR][1000 genomes]
rs8031846	1.00[AMR][1000 genomes]
rs899465	1.00[YRI][hapmap];0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456785	chr15:32926076-33352989	Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv568913	chr15:32926076-33352989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv832962	chr15:33111517-33239736	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv903978	chr15:33144202-33308641	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1041609	chr15:33148035-33355999	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv542339	chr15:33148035-33355999	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv903980	chr15:33149087-33264201	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv568917	chr15:33167171-33304172	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv903981	chr15:33207082-33550256	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33216200-33234800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:33226000-33235400	Weak transcription	NHLF	lung
3	chr15:33226600-33245400	Weak transcription	Stomach Mucosa	stomach
4	chr15:33232800-33234400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:33232800-33263400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:33233800-33234600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:33233800-33234600	Enhancers	Fetal Brain Male	brain
8	chr15:33233800-33234800	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr15:33233800-33234800	Enhancers	Fetal Stomach	stomach
10	chr15:33234000-33234400	Enhancers	Rectal Smooth Muscle	rectum
11	chr15:33234000-33234600	Enhancers	Aorta	Aorta
12	chr15:33234000-33234600	Enhancers	Fetal Brain Female	brain
13	chr15:33234000-33234800	Enhancers	Fetal Muscle Leg	muscle
14	chr15:33234000-33235000	Enhancers	Psoas Muscle	Psoas
15	chr15:33234000-33235200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:33234000-33235400	Enhancers	Colon Smooth Muscle	Colon
17	chr15:33234000-33235600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:33234000-33235600	Enhancers	HSMMtube	muscle
19	chr15:33234200-33234400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:33234200-33234800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr15:33234200-33234800	Enhancers	Stomach Smooth Muscle	stomach
22	chr15:33234200-33235000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:33234200-33235000	Enhancers	NHDF-Ad	bronchial
24	chr15:33234200-33235800	Enhancers	Osteobl	bone

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