Variant report

Variant	rs73402530
Chromosome Location	chr6:28232429-28232430
allele	C/T
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:8)
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	chr6:28231755-28232754	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28108136..28111844-chr6:28229127..28232755,4	K562	blood:
2	chr6:28020207..28021946-chr6:28231611..28234328,2	K562	blood:
3	chr6:28196925..28198715-chr6:28230690..28232627,2	K562	blood:
4	chr6:28232169..28234255-chr6:28237329..28239836,2	MCF-7	breast:
5	chr6:28192920..28194978-chr6:28231042..28233452,2	K562	blood:
6	chr6:28091663..28094187-chr6:28232383..28234529,2	MCF-7	breast:
7	chr6:28184789..28191313-chr6:28230652..28235913,7	K562	blood:
8	chr6:28230426..28232674-chr6:28234865..28236670,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197062	TF binding region
ENSG00000137185	Chromatin interaction
ENSG00000182477	Chromatin interaction
ENSG00000176933	Chromatin interaction
ENSG00000196812	Chromatin interaction
ENSG00000198315	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2223287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57229798	0.83[AFR][1000 genomes]
rs57935190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58417073	0.83[AFR][1000 genomes]
rs58703563	0.83[AFR][1000 genomes]
rs60411265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62638674	0.83[AFR][1000 genomes]
rs6917449	0.83[AFR][1000 genomes]
rs73385824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73385839	1.00[AMR][1000 genomes]
rs73394789	1.00[AMR][1000 genomes]
rs73396511	1.00[AMR][1000 genomes]
rs73398549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399679	0.83[AFR][1000 genomes]
rs73400304	0.83[AFR][1000 genomes]
rs73400305	0.83[AFR][1000 genomes]
rs73400511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400554	1.00[AMR][1000 genomes]
rs73400574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402529	1.00[AMR][1000 genomes]
rs73402536	1.00[AMR][1000 genomes]
rs7453044	0.83[AFR][1000 genomes]
rs7767244	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28227000-28233800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr6:28227400-28234400	Weak transcription	HSMMtube	muscle
3	chr6:28227600-28233600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:28227600-28233800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:28227600-28233800	Weak transcription	HMEC	breast
6	chr6:28227800-28234400	Weak transcription	Right Atrium	heart
7	chr6:28228200-28234600	Weak transcription	Left Ventricle	heart
8	chr6:28228400-28233800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:28228400-28234000	Weak transcription	Psoas Muscle	Psoas
10	chr6:28230000-28233800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr6:28230000-28234200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:28230400-28234600	Weak transcription	Right Ventricle	heart
13	chr6:28231400-28233200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:28231800-28233400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:28232000-28233800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:28232000-28233800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:28232000-28233800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr6:28232000-28234400	Enhancers	Hela-S3	cervix
19	chr6:28232200-28233800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr6:28232200-28234000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:28232200-28234000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:28232200-28234200	Weak transcription	Primary T cells from cord blood	blood
23	chr6:28232200-28234200	Weak transcription	Osteobl	bone
24	chr6:28232400-28233000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:28232400-28233000	Enhancers	HUVEC	blood vessel
26	chr6:28232400-28234000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:28232400-28234000	Weak transcription	Muscle Satellite Cultured Cells	--

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