Variant report

Variant	rs6800139
Chromosome Location	chr3:112457920-112457921
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: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1387020	0.82[EUR][1000 genomes]
rs3912624	0.84[EUR][1000 genomes]
rs820552	0.82[EUR][1000 genomes]
rs820555	0.82[EUR][1000 genomes]
rs865363	0.81[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:41 , 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	chr3:112453400-112458400	Enhancers	Primary T cells from cord blood	blood
4	chr3:112453400-112461400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr3:112453600-112458200	Weak transcription	NHEK	skin
6	chr3:112453600-112458400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr3:112453600-112458400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr3:112453600-112461400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr3:112453800-112458200	Weak transcription	HSMM	muscle
10	chr3:112453800-112458400	Weak transcription	HSMMtube	muscle
11	chr3:112453800-112461000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr3:112454000-112458200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:112454200-112458200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:112454200-112463800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:112454600-112461200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr3:112454600-112461800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:112455400-112461000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:112455400-112461400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:112456000-112458200	Weak transcription	Fetal Thymus	thymus
20	chr3:112456000-112458200	Weak transcription	Thymus	Thymus
21	chr3:112456200-112458200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr3:112456200-112458200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr3:112456200-112458400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:112456400-112464000	Weak transcription	K562	blood
25	chr3:112456600-112458200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr3:112456800-112459000	Enhancers	Osteobl	bone
27	chr3:112456800-112459200	Enhancers	NHDF-Ad	bronchial
28	chr3:112457000-112459200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:112457200-112458400	Enhancers	NHLF	lung
30	chr3:112457200-112458800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:112457200-112459000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:112457200-112459600	Enhancers	Primary B cells from cord blood	blood
33	chr3:112457200-112459600	Enhancers	Primary T cells fromperipheralblood	blood
34	chr3:112457200-112461200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr3:112457200-112461200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr3:112457400-112458800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr3:112457600-112458600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr3:112457600-112458600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr3:112457600-112458800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:112457600-112458800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr3:112457800-112458200	Weak transcription	Stomach Mucosa	stomach

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