Variant report

Variant	rs2242063
Chromosome Location	chr15:58838575-58838576
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 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	chr15:58838134..58839678-chr15:58847125..58849690,2	K562	blood:
5	chr15:58813058..58816667-chr15:58837255..58840517,3	MCF-7	breast:
6	chr15:58836656..58842196-chr15:58843431..58849915,8	K562	blood:
7	chr15:58810857..58816650-chr15:58835363..58842392,10	K562	blood:
8	chr15:58821255..58823179-chr15:58836509..58838748,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128918	Chromatin interaction
ENSG00000259476	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12437457	0.82[CEU][hapmap]
rs12901989	0.83[CEU][hapmap]
rs12908645	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12913969	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12917577	0.83[CEU][hapmap]
rs16940587	0.83[CEU][hapmap]
rs16940589	0.83[CEU][hapmap]
rs17301857	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17301864	0.94[CEU][hapmap];0.88[CHB][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2242066	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	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28458188	0.82[EUR][1000 genomes]
rs28515698	0.82[EUR][1000 genomes]
rs28524122	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28569241	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28602186	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36017602	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6074	0.94[CEU][hapmap];0.81[CHB][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes]
rs62005260	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7174414	0.81[CEU][hapmap]
rs8036005	0.83[CEU][hapmap]
rs871804	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9635351	0.83[CEU][hapmap]
rs9921024	0.83[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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58827600-58843400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:58828600-58839000	Weak transcription	Pancreas	Pancrea
3	chr15:58829000-58847600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:58835600-58843200	Weak transcription	Thymus	Thymus
5	chr15:58836200-58838600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:58836200-58839000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr15:58836400-58838600	Enhancers	Dnd41	blood
8	chr15:58836600-58838600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:58836800-58838600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr15:58837000-58838600	Enhancers	Primary T cells from cord blood	blood
11	chr15:58837000-58838800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr15:58837000-58840600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:58837000-58848400	Enhancers	Fetal Thymus	thymus
14	chr15:58837200-58838800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr15:58837200-58839000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr15:58837400-58839200	Enhancers	NH-A	brain
17	chr15:58837400-58840400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:58837400-58843000	Enhancers	Fetal Heart	heart
19	chr15:58837600-58838600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr15:58837600-58840600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:58837800-58838800	Enhancers	Spleen	Spleen
22	chr15:58837800-58839200	Enhancers	Hela-S3	cervix
23	chr15:58837800-58840800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr15:58838000-58839200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr15:58838000-58840000	Enhancers	HepG2	liver
26	chr15:58838000-58840600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:58838000-58845000	Enhancers	Placenta	Placenta
28	chr15:58838200-58839000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr15:58838200-58839600	Flanking Active TSS	HSMMtube	muscle
30	chr15:58838200-58840000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr15:58838200-58840000	Enhancers	NHLF	lung
32	chr15:58838200-58841200	Weak transcription	Fetal Brain Male	brain
33	chr15:58838200-58841600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:58838200-58845600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:58838400-58838800	Enhancers	Fetal Muscle Trunk	muscle
36	chr15:58838400-58839000	Weak transcription	Right Ventricle	heart
37	chr15:58838400-58839000	Flanking Active TSS	K562	blood
38	chr15:58838400-58839200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr15:58838400-58839400	Weak transcription	Right Atrium	heart
40	chr15:58838400-58839600	Enhancers	Small Intestine	intestine
41	chr15:58838400-58839600	Flanking Active TSS	HSMM	muscle
42	chr15:58838400-58839800	Enhancers	Liver	Liver
43	chr15:58838400-58839800	Enhancers	Ovary	ovary
44	chr15:58838400-58840000	Flanking Active TSS	A549	lung
45	chr15:58838400-58840600	Enhancers	HUVEC	blood vessel
46	chr15:58838400-58840600	Enhancers	Osteobl	bone
47	chr15:58838400-58843000	Enhancers	Left Ventricle	heart
48	chr15:58838400-58843400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr15:58838400-58843800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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