Variant report

Variant	rs347953
Chromosome Location	chr15:33219182-33219183
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10048026	0.87[AFR][1000 genomes]
rs2956150	0.91[YRI][hapmap]
rs347916	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs347917	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs347918	1.00[YRI][hapmap]
rs347919	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs347920	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs347928	0.89[YRI][hapmap]
rs347934	0.84[YRI][hapmap]
rs347938	0.80[YRI][hapmap]
rs347944	0.80[YRI][hapmap]
rs347945	0.80[YRI][hapmap]
rs347947	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs347948	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs347949	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs347954	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347955	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs35530263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs501747	0.84[YRI][hapmap]
rs534910	0.84[YRI][hapmap]
rs554839	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs556825	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7179708	0.84[YRI][hapmap]
rs899465	1.00[YRI][hapmap];0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422296	chr15:32798938-33221215	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33202600-33224600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:33206200-33219200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr15:33215200-33221200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr15:33215600-33221000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:33215800-33219400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:33216200-33220400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr15:33216200-33234800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:33216400-33227200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:33216800-33221000	Weak transcription	Osteobl	bone
10	chr15:33217000-33229400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:33217400-33219400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:33218600-33219200	Enhancers	HSMM	muscle
13	chr15:33219000-33219600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr15:33219000-33220400	Weak transcription	NHLF	lung

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