Variant report

Variant	rs2242066
Chromosome Location	chr15:58839337-58839338
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:58623434..58625250-chr15:58838211..58839715,2	K562	blood:
2	chr15:58824835..58829265-chr15:58838025..58840916,4	K562	blood:
3	chr15:58824835..58829265-chr15:58838025..58840916,5	K562	blood:
4	chr15:58838998..58841145-chr15:58842509..58846691,3	MCF-7	breast:
5	chr15:58838134..58839678-chr15:58847125..58849690,2	K562	blood:
6	chr15:58813058..58816667-chr15:58837255..58840517,3	MCF-7	breast:
7	chr15:58836656..58842196-chr15:58843431..58849915,8	K562	blood:
8	chr15:58810857..58816650-chr15:58835363..58842392,10	K562	blood:
9	chr15:58831032..58833136-chr15:58839307..58841040,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128918	Chromatin interaction
ENSG00000259476	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11071391	0.81[CEU][hapmap]
rs12437457	0.82[CEU][hapmap]
rs12901989	0.83[CEU][hapmap]
rs12908645	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12913969	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12917577	0.83[CEU][hapmap]
rs16940587	0.82[CEU][hapmap]
rs16940589	0.83[CEU][hapmap]
rs17301857	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17301864	0.94[CEU][hapmap];0.88[CHB][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2242063	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305421	0.82[CEU][hapmap]
rs28427123	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28458188	0.82[EUR][1000 genomes]
rs28515698	0.82[EUR][1000 genomes]
rs28524122	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28569241	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28602186	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36017602	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6074	0.94[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs62005260	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7174414	0.80[CEU][hapmap]
rs8036005	0.83[CEU][hapmap]
rs871804	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9635351	0.83[CEU][hapmap]
rs9921024	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	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
6	nsv569601	chr15:58800766-58866156	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58827600-58843400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:58829000-58847600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr15:58835600-58843200	Weak transcription	Thymus	Thymus
4	chr15:58837000-58840600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:58837000-58848400	Enhancers	Fetal Thymus	thymus
6	chr15:58837400-58840400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:58837400-58843000	Enhancers	Fetal Heart	heart
8	chr15:58837600-58840600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:58837800-58840800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr15:58838000-58840000	Enhancers	HepG2	liver
11	chr15:58838000-58840600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:58838000-58845000	Enhancers	Placenta	Placenta
13	chr15:58838200-58839600	Flanking Active TSS	HSMMtube	muscle
14	chr15:58838200-58840000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr15:58838200-58840000	Enhancers	NHLF	lung
16	chr15:58838200-58841200	Weak transcription	Fetal Brain Male	brain
17	chr15:58838200-58841600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:58838200-58845600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:58838400-58839400	Weak transcription	Right Atrium	heart
20	chr15:58838400-58839600	Enhancers	Small Intestine	intestine
21	chr15:58838400-58839600	Flanking Active TSS	HSMM	muscle
22	chr15:58838400-58839800	Enhancers	Liver	Liver
23	chr15:58838400-58839800	Enhancers	Ovary	ovary
24	chr15:58838400-58840000	Flanking Active TSS	A549	lung
25	chr15:58838400-58840600	Enhancers	HUVEC	blood vessel
26	chr15:58838400-58840600	Enhancers	Osteobl	bone
27	chr15:58838400-58843000	Enhancers	Left Ventricle	heart
28	chr15:58838400-58843400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr15:58838400-58843800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr15:58838600-58839800	Enhancers	Fetal Lung	lung
31	chr15:58838600-58840400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:58838600-58840600	Enhancers	NHDF-Ad	bronchial
33	chr15:58838600-58842000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:58838600-58842600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:58838600-58842600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr15:58838600-58842800	Weak transcription	Dnd41	blood
37	chr15:58838600-58843400	Weak transcription	Primary T cells from cord blood	blood
38	chr15:58838800-58839800	Enhancers	Duodenum Mucosa	Duodenum
39	chr15:58838800-58840400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:58838800-58840400	Enhancers	NHEK	skin
41	chr15:58838800-58842200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:58838800-58842200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr15:58838800-58842800	Enhancers	Fetal Muscle Leg	muscle
44	chr15:58838800-58843000	Enhancers	Fetal Stomach	stomach
45	chr15:58838800-58843400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr15:58838800-58844000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:58838800-58845000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr15:58839000-58839600	Enhancers	Pancreas	Pancrea
49	chr15:58839000-58840800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:58839000-58841000	Enhancers	Right Ventricle	heart

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