Variant report

Variant	rs820542
Chromosome Location	chr3:112456175-112456176
allele	C/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: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4682116	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs820553	0.84[EUR][1000 genomes]
rs820559	0.84[EUR][1000 genomes]
rs820563	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs820567	0.83[AMR][1000 genomes];0.97[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	chr3:112453800-112456200	Enhancers	Primary B cells from peripheral blood	blood
11	chr3:112453800-112456200	Weak transcription	Osteobl	bone
12	chr3:112453800-112457200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:112453800-112458200	Weak transcription	HSMM	muscle
14	chr3:112453800-112458400	Weak transcription	HSMMtube	muscle
15	chr3:112453800-112461000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr3:112454000-112457000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:112454000-112457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:112454000-112457200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr3:112454000-112457400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr3:112454000-112458200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:112454200-112457200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr3:112454200-112457200	Weak transcription	Stomach Mucosa	stomach
23	chr3:112454200-112458200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:112454200-112463800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr3:112454600-112461200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr3:112454600-112461800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr3:112455000-112456600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr3:112455200-112456200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:112455200-112456800	Weak transcription	NHDF-Ad	bronchial
30	chr3:112455200-112457600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr3:112455400-112456200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr3:112455400-112456400	Enhancers	K562	blood
33	chr3:112455400-112457000	Weak transcription	A549	lung
34	chr3:112455400-112461000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:112455400-112461400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:112455800-112457200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr3:112456000-112458200	Weak transcription	Fetal Thymus	thymus
38	chr3:112456000-112458200	Weak transcription	Thymus	Thymus

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