Variant report

Variant	rs59190393
Chromosome Location	chr3:112456938-112456939
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112452493..112454987-chr3:112455903..112458185,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1154274	1.00[EUR][1000 genomes]
rs1685875	1.00[EUR][1000 genomes]
rs56728555	1.00[EUR][1000 genomes]
rs57140268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57311206	1.00[EUR][1000 genomes]
rs57880608	1.00[EUR][1000 genomes]
rs58012609	1.00[EUR][1000 genomes]
rs58190520	1.00[EUR][1000 genomes]
rs58688989	1.00[AMR][1000 genomes]
rs58720537	1.00[EUR][1000 genomes]
rs59583995	1.00[EUR][1000 genomes]
rs60177418	1.00[EUR][1000 genomes]
rs60266638	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60945656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61564938	1.00[EUR][1000 genomes]
rs6802806	1.00[EUR][1000 genomes]
rs6808805	1.00[EUR][1000 genomes]
rs6809016	1.00[EUR][1000 genomes]
rs6809740	1.00[EUR][1000 genomes]
rs72946377	1.00[EUR][1000 genomes]
rs72946383	1.00[EUR][1000 genomes]
rs72946387	1.00[EUR][1000 genomes]
rs72946389	1.00[EUR][1000 genomes]
rs72946392	1.00[EUR][1000 genomes]
rs7645804	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112452800-112461200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:112453000-112459800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:112453400-112457600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:112453400-112458400	Enhancers	Primary T cells from cord blood	blood
5	chr3:112453400-112461400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:112453600-112458200	Weak transcription	NHEK	skin
7	chr3:112453600-112458400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr3:112453600-112458400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr3:112453600-112461400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr3:112453800-112457200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:112453800-112458200	Weak transcription	HSMM	muscle
12	chr3:112453800-112458400	Weak transcription	HSMMtube	muscle
13	chr3:112453800-112461000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr3:112454000-112457000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:112454000-112457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:112454000-112457200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr3:112454000-112457400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr3:112454000-112458200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:112454200-112457200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr3:112454200-112457200	Weak transcription	Stomach Mucosa	stomach
21	chr3:112454200-112458200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:112454200-112463800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr3:112454600-112461200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr3:112454600-112461800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:112455200-112457600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr3:112455400-112457000	Weak transcription	A549	lung
27	chr3:112455400-112461000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:112455400-112461400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:112455800-112457200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr3:112456000-112458200	Weak transcription	Fetal Thymus	thymus
31	chr3:112456000-112458200	Weak transcription	Thymus	Thymus
32	chr3:112456200-112458200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr3:112456200-112458200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr3:112456200-112458400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:112456400-112464000	Weak transcription	K562	blood
36	chr3:112456600-112458200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr3:112456800-112459000	Enhancers	Osteobl	bone
38	chr3:112456800-112459200	Enhancers	NHDF-Ad	bronchial

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