Variant report

Variant	rs73402529
Chromosome Location	chr6:28229838-28229839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:28229711-28230062	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:28108136..28111844-chr6:28229127..28232755,4	K562	blood:
2	chr6:28228574..28231688-chr6:28301541..28303929,3	K562	blood:
3	chr6:28217539..28222258-chr6:28227412..28230016,4	MCF-7	breast:
4	chr6:28184440..28186086-chr6:28227732..28230449,2	K562	blood:
5	chr6:28228030..28230750-chr6:28318492..28321168,2	K562	blood:
6	chr6:28180865..28183340-chr6:28228825..28231312,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ZKSCAN4	TF binding region
ENSG00000197062	TF binding region
ENSG00000187626	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000235109	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2223287	1.00[AMR][1000 genomes]
rs57935190	1.00[AMR][1000 genomes]
rs60411265	1.00[AMR][1000 genomes]
rs6903306	0.83[AFR][1000 genomes]
rs73385824	1.00[AMR][1000 genomes]
rs73385839	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73385893	0.83[AFR][1000 genomes]
rs73394789	1.00[AMR][1000 genomes]
rs73396511	1.00[AMR][1000 genomes]
rs73398549	1.00[AMR][1000 genomes]
rs73399652	0.83[AFR][1000 genomes]
rs73400511	1.00[AMR][1000 genomes]
rs73400554	1.00[AMR][1000 genomes]
rs73400574	1.00[AMR][1000 genomes]
rs73402526	1.00[AMR][1000 genomes]
rs73402530	1.00[AMR][1000 genomes]
rs73402536	1.00[AMR][1000 genomes]
rs7767244	0.89[AFR][1000 genomes];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	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28227000-28232000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr6:28227000-28233800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr6:28227400-28234400	Weak transcription	HSMMtube	muscle
4	chr6:28227600-28231600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:28227600-28231600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:28227600-28233600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:28227600-28233800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:28227600-28233800	Weak transcription	HMEC	breast
9	chr6:28227800-28231600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:28227800-28234400	Weak transcription	Right Atrium	heart
11	chr6:28228200-28234600	Weak transcription	Left Ventricle	heart
12	chr6:28228400-28231400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:28228400-28233800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:28228400-28234000	Weak transcription	Psoas Muscle	Psoas
15	chr6:28229400-28230000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr6:28229600-28230000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:28229600-28230000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr6:28229800-28230000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:28229800-28230400	Enhancers	Right Ventricle	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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