Variant report

Variant	rs2043087
Chromosome Location	chr15:58599293-58599294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58593344..58595622-chr15:58598968..58601410,2	K562	blood:
2	chr15:58596834..58598473-chr15:58598758..58600301,2	MCF-7	breast:
3	chr15:58599211..58601469-chr15:58627720..58629346,2	MCF-7	breast:
4	chr15:58595612..58601278-chr15:58601529..58605992,7	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1387139	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs1652516	0.83[CEU][hapmap]
rs1663262	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs16940021	0.83[CEU][hapmap]
rs1711038	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs1835358	0.84[CEU][hapmap]
rs2004969	0.82[EUR][1000 genomes]
rs2077320	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2120838	0.82[AMR][1000 genomes]
rs6493999	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8026289	0.81[EUR][1000 genomes]
rs999657	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv833024	chr15:58447459-58621963	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv904266	chr15:58580921-58689187	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58590200-58602400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:58595800-58601800	Weak transcription	K562	blood
3	chr15:58595800-58605000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr15:58597200-58600600	Enhancers	Liver	Liver
5	chr15:58597200-58600800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:58598200-58600600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:58598400-58599400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:58598400-58600000	Enhancers	Fetal Thymus	thymus
9	chr15:58598400-58600200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:58598400-58600200	Enhancers	HepG2	liver
11	chr15:58598400-58600800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr15:58598400-58600800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:58598400-58601000	Enhancers	NHDF-Ad	bronchial
14	chr15:58598600-58599800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:58598600-58599800	Enhancers	Primary T cells from cord blood	blood
16	chr15:58598600-58599800	Enhancers	Dnd41	blood
17	chr15:58598600-58599800	Enhancers	HUVEC	blood vessel
18	chr15:58598600-58600200	Enhancers	NHEK	skin
19	chr15:58598600-58600600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:58598600-58600800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:58598600-58601200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:58598800-58599600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:58598800-58599600	Enhancers	Brain Substantia Nigra	brain
24	chr15:58598800-58599600	Enhancers	Fetal Stomach	stomach
25	chr15:58598800-58599800	Enhancers	Fetal Muscle Leg	muscle
26	chr15:58598800-58599800	Enhancers	Psoas Muscle	Psoas
27	chr15:58598800-58599800	Enhancers	HMEC	breast
28	chr15:58598800-58600000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:58598800-58600000	Enhancers	Adipose Nuclei	Adipose
30	chr15:58598800-58600000	Enhancers	HSMMtube	muscle
31	chr15:58598800-58600200	Enhancers	Fetal Kidney	kidney
32	chr15:58598800-58600400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr15:58598800-58600400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr15:58598800-58600400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr15:58598800-58600400	Enhancers	NHLF	lung
36	chr15:58598800-58600600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:58598800-58600600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr15:58598800-58600800	Enhancers	NH-A	brain
39	chr15:58598800-58600800	Enhancers	Osteobl	bone
40	chr15:58599000-58599400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr15:58599000-58599800	Enhancers	Placenta	Placenta
42	chr15:58599000-58600000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:58599000-58600000	Enhancers	Thymus	Thymus
44	chr15:58599000-58600200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr15:58599000-58600200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:58599000-58600200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:58599000-58601200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:58599000-58601200	Weak transcription	Esophagus	oesophagus
49	chr15:58599000-58603000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr15:58599200-58599800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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