Variant report

Variant	rs56868943
Chromosome Location	chr1:173430688-173430689
allele	C/G
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	GATA3	chr1:173430432-173430926	SH-SY5Y	brain:	n/a	n/a
2	GATA2	chr1:173430000-173430767	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000203739	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs35224644	1.00[AMR][1000 genomes]
rs35679908	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35749242	1.00[AMR][1000 genomes]
rs35899698	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57832781	1.00[AMR][1000 genomes]
rs58307514	1.00[AMR][1000 genomes]
rs58425101	1.00[AMR][1000 genomes]
rs61075186	1.00[AMR][1000 genomes]
rs6667110	1.00[AMR][1000 genomes]
rs6691086	1.00[AMR][1000 genomes]
rs73023584	1.00[AMR][1000 genomes]
rs73025450	0.80[AFR][1000 genomes]
rs73025454	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73025457	1.00[AMR][1000 genomes]
rs73025474	1.00[AMR][1000 genomes]
rs73025495	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73027303	1.00[AMR][1000 genomes]
rs73027364	1.00[AMR][1000 genomes]
rs73027398	1.00[AMR][1000 genomes]
rs73029321	1.00[AMR][1000 genomes]
rs73041128	1.00[AMR][1000 genomes]
rs7539992	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173419000-173432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:173419000-173439000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:173421000-173432200	Weak transcription	Fetal Brain Male	brain
4	chr1:173421400-173434000	Weak transcription	Psoas Muscle	Psoas
5	chr1:173423200-173432000	Weak transcription	A549	lung
6	chr1:173423400-173432600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:173423600-173432600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:173423800-173433400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:173423800-173436600	Weak transcription	NHDF-Ad	bronchial
10	chr1:173423800-173442400	Weak transcription	NH-A	brain
11	chr1:173425200-173442400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:173425400-173432200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:173426000-173431400	Weak transcription	Fetal Kidney	kidney
14	chr1:173427600-173431200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr1:173428600-173431000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:173428600-173431600	Strong transcription	Liver	Liver
17	chr1:173428800-173430800	Strong transcription	Fetal Brain Female	brain
18	chr1:173428800-173430800	Strong transcription	Fetal Stomach	stomach
19	chr1:173428800-173431000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:173428800-173431000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:173428800-173431000	Strong transcription	Brain Hippocampus Middle	brain
22	chr1:173428800-173431000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr1:173428800-173431200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:173428800-173431200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:173428800-173431400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:173428800-173431400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:173428800-173431400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:173428800-173431400	Strong transcription	Brain Anterior Caudate	brain
29	chr1:173428800-173432000	Strong transcription	Primary T cells from cord blood	blood
30	chr1:173429000-173430800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:173429000-173430800	Strong transcription	Lung	lung
32	chr1:173429000-173430800	Strong transcription	Thymus	Thymus
33	chr1:173429000-173431000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:173429000-173431000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:173429000-173431000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:173429000-173431000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:173429000-173431000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:173429000-173431000	Strong transcription	Adipose Nuclei	Adipose
39	chr1:173429000-173431000	Strong transcription	Brain Cingulate Gyrus	brain
40	chr1:173429000-173431000	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr1:173429000-173431000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:173429000-173431000	Strong transcription	Left Ventricle	heart
43	chr1:173429000-173431000	Strong transcription	Ovary	ovary
44	chr1:173429000-173431000	Transcr. at gene 5' and 3'	HSMMtube	muscle
45	chr1:173429000-173431000	Strong transcription	Osteobl	bone
46	chr1:173429000-173431200	Strong transcription	Primary B cells from cord blood	blood
47	chr1:173429000-173431200	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr1:173429000-173431200	Strong transcription	Brain Substantia Nigra	brain
49	chr1:173429000-173431200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr1:173429000-173431200	Strong transcription	HepG2	liver

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