Variant report

Variant	rs59214825
Chromosome Location	chr6:56720810-56720811
allele	A/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	SPI1	chr6:56720805-56721076	GM12891	blood:	n/a	n/a
2	NFIC	chr6:56720790-56721388	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56714910..56717354-chr6:56718050..56720944,3	MCF-7	breast:
2	chr6:56714744..56716378-chr6:56719241..56721008,2	K562	blood:

Variant related genes	Relation type
DST	TF binding region
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1903328	1.00[AMR][1000 genomes]
rs57178695	1.00[AMR][1000 genomes]
rs59289377	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56716800-56724600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr6:56716800-56727200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:56717000-56727200	Weak transcription	Psoas Muscle	Psoas
4	chr6:56717400-56721000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:56717400-56721000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:56717400-56724600	Weak transcription	HSMM	muscle
7	chr6:56717400-56730200	Weak transcription	Ovary	ovary
8	chr6:56717800-56721000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:56717800-56721200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:56717800-56721200	Weak transcription	Brain Substantia Nigra	brain
11	chr6:56717800-56724600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:56717800-56724800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:56717800-56724800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:56717800-56724800	Weak transcription	NHLF	lung
15	chr6:56717800-56725000	Weak transcription	HUVEC	blood vessel
16	chr6:56717800-56725000	Weak transcription	NH-A	brain
17	chr6:56717800-56725200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:56717800-56727000	Weak transcription	GM12878-XiMat	blood
19	chr6:56717800-56727400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:56717800-56730400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:56718000-56724600	Weak transcription	A549	lung
22	chr6:56718200-56731000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:56718400-56724800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:56718800-56725200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:56719200-56724600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:56719400-56721400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:56719600-56721200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:56719800-56721800	Enhancers	Brain Hippocampus Middle	brain
29	chr6:56719800-56725000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:56720000-56721000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:56720000-56724800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:56720400-56721000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:56720400-56721200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:56720400-56721200	Enhancers	Brain Angular Gyrus	brain
35	chr6:56720400-56721200	Enhancers	Brain Germinal Matrix	brain
36	chr6:56720400-56721200	Enhancers	Left Ventricle	heart
37	chr6:56720400-56721400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr6:56720400-56721400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:56720400-56721600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr6:56720400-56722000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:56720600-56721600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:56720600-56721600	Enhancers	Brain Anterior Caudate	brain
43	chr6:56720600-56721800	Enhancers	Osteobl	bone
44	chr6:56720800-56721200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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