Variant report

Variant	rs543580
Chromosome Location	chr6:13321321-13321322
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr6:13319663-13321599	K562	blood:	n/a	n/a

Variant related genes	Relation type
TBC1D7	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2165420	1.00[AMR][1000 genomes]
rs34367742	1.00[AMR][1000 genomes]
rs34393712	1.00[AMR][1000 genomes]
rs480329	1.00[AMR][1000 genomes]
rs56275338	1.00[AMR][1000 genomes]
rs73723398	1.00[AMR][1000 genomes]
rs73723401	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13288600-13326400	Strong transcription	Primary T cells from cord blood	blood
2	chr6:13289800-13327000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:13292000-13326000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:13292600-13326600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:13298200-13326800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:13299600-13326600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:13299800-13326400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:13300200-13327000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:13301200-13325400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:13303800-13327800	Weak transcription	Stomach Mucosa	stomach
11	chr6:13304400-13327800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:13304600-13325600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:13304600-13326200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:13305200-13325800	Strong transcription	Duodenum Mucosa	Duodenum
15	chr6:13305400-13326200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr6:13305800-13326200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:13307200-13326200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr6:13307400-13326400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:13308600-13326400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:13308600-13326400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:13309000-13325800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:13309400-13326400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:13310200-13325600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr6:13310200-13326400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr6:13311200-13325800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr6:13311200-13325800	Strong transcription	Adipose Nuclei	Adipose
27	chr6:13311200-13326000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:13311200-13326200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:13311400-13325800	Strong transcription	Left Ventricle	heart
30	chr6:13311400-13326000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr6:13311400-13326200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr6:13311400-13326200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:13311400-13326200	Strong transcription	Fetal Thymus	thymus
34	chr6:13311400-13326400	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr6:13311400-13326400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:13311400-13327000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:13311600-13325800	Strong transcription	Fetal Muscle Leg	muscle
38	chr6:13311600-13326000	Strong transcription	Dnd41	blood
39	chr6:13311600-13326200	Strong transcription	Liver	Liver
40	chr6:13312200-13326400	Strong transcription	Primary B cells from cord blood	blood
41	chr6:13313400-13325000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr6:13313400-13325200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr6:13313400-13325400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr6:13313400-13326600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr6:13313600-13322800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:13313600-13325400	Strong transcription	Fetal Brain Female	brain
47	chr6:13313600-13325600	Strong transcription	Fetal Intestine Large	intestine
48	chr6:13313600-13325600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr6:13313600-13325800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:13313600-13326000	Strong transcription	Fetal Stomach	stomach

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