Variant report

Variant	rs16940339
Chromosome Location	chr15:58761183-58761184
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58728810..58730578-chr15:58760180..58761799,2	MCF-7	breast:
2	chr15:58754820..58757599-chr15:58758355..58762013,3	K562	blood:
3	chr15:58720668..58723820-chr15:58759148..58762580,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16940344	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940436	1.00[EUR][1000 genomes]
rs261335	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41292488	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4561401	1.00[AMR][1000 genomes]
rs7162746	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73422639	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73422667	1.00[EUR][1000 genomes]
rs74016190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74019117	1.00[AMR][1000 genomes]
rs867957	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers 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 target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv904267	chr15:58699010-58769583	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1047048	chr15:58701400-58784800	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3362898	chr15:58705732-58850860	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv457173	chr15:58731567-58779039	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv569600	chr15:58731567-58779039	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1043041	chr15:58744505-58876327	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58737400-58761800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:58743800-58770400	Enhancers	Fetal Thymus	thymus
3	chr15:58752400-58761800	Weak transcription	Right Atrium	heart
4	chr15:58752800-58765000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:58755400-58765000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr15:58755400-58765000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr15:58755600-58761400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:58755600-58763600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:58755800-58761400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:58755800-58762200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:58755800-58765800	Weak transcription	Gastric	stomach
12	chr15:58756800-58761400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:58757200-58763000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:58757800-58761600	Enhancers	HSMM	muscle
15	chr15:58758000-58761800	Weak transcription	Dnd41	blood
16	chr15:58758200-58761400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:58758200-58761600	Weak transcription	Osteobl	bone
18	chr15:58758400-58761600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr15:58758600-58761400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:58758600-58764000	Weak transcription	Thymus	Thymus
21	chr15:58759000-58761400	Weak transcription	NHDF-Ad	bronchial
22	chr15:58759000-58761400	Weak transcription	NHLF	lung
23	chr15:58759400-58761200	Flanking Active TSS	HepG2	liver
24	chr15:58759400-58762200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr15:58759400-58762400	Enhancers	Stomach Mucosa	stomach
26	chr15:58759400-58768400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:58759400-58770400	Enhancers	Placenta	Placenta
28	chr15:58759600-58765200	Weak transcription	Fetal Lung	lung
29	chr15:58759600-58765200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr15:58759800-58763800	Weak transcription	GM12878-XiMat	blood
31	chr15:58759800-58765000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr15:58759800-58765000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr15:58760000-58762000	Enhancers	Liver	Liver
34	chr15:58760200-58761600	Enhancers	A549	lung
35	chr15:58760200-58761600	Enhancers	Hela-S3	cervix
36	chr15:58760200-58762000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:58760400-58761400	Enhancers	Pancreas	Pancrea
38	chr15:58760400-58761400	Weak transcription	NH-A	brain
39	chr15:58760400-58763600	Enhancers	NHEK	skin
40	chr15:58760400-58764400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:58760400-58770200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:58760600-58761200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr15:58760600-58762200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr15:58760600-58762200	Weak transcription	Ovary	ovary
45	chr15:58760600-58764600	Weak transcription	Spleen	Spleen
46	chr15:58760600-58765000	Weak transcription	K562	blood
47	chr15:58760600-58767000	Weak transcription	Fetal Intestine Large	intestine
48	chr15:58760800-58761200	Weak transcription	Fetal Muscle Leg	muscle
49	chr15:58760800-58765000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr15:58760800-58765000	Weak transcription	Small Intestine	intestine

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