Variant report

Variant	rs73400574
Chromosome Location	chr6:28183534-28183535
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28182735..28195387-chr6:28315960..28325841,32	K562	blood:
2	chr6:28170074..28175450-chr6:28180913..28183647,5	K562	blood:
3	chr6:27774472..27777190-chr6:28183511..28185747,2	K562	blood:
4	chr6:28180889..28183569-chr6:28191769..28194377,3	MCF-7	breast:
5	chr6:27860805..27862945-chr6:28182726..28184284,2	K562	blood:
6	chr6:28120467..28123016-chr6:28183065..28185019,2	MCF-7	breast:
7	chr6:28103775..28113920-chr6:28177995..28190115,32	K562	blood:
8	chr6:28183176..28185636-chr6:28218176..28220356,3	MCF-7	breast:
9	chr6:28182366..28191375-chr6:28300021..28306741,17	K562	blood:
10	chr6:27787686..27790389-chr6:28180656..28184025,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261839	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000137185	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000187626	Chromatin interaction
ENSG00000217862	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

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]
rs59433398	1.00[AMR][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]
rs73394737	1.00[AMR][1000 genomes]
rs73394738	1.00[AMR][1000 genomes]
rs73394747	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]
rs73400511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400554	1.00[AMR][1000 genomes]
rs73402526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402529	1.00[AMR][1000 genomes]
rs73402530	1.00[AFR][1000 genomes];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:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883514	chr6:28155418-28185726	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv883516	chr6:28156476-28185726	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28180800-28186400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:28181000-28185400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:28181400-28186000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:28181400-28186000	Weak transcription	HSMM	muscle
5	chr6:28181600-28185600	Weak transcription	GM12878-XiMat	blood
6	chr6:28182800-28183800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:28182800-28184200	Flanking Active TSS	Hela-S3	cervix
8	chr6:28182800-28186000	Enhancers	Placenta	Placenta
9	chr6:28183000-28183600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:28183000-28183800	Bivalent/Poised TSS	Osteobl	bone
11	chr6:28183000-28184000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:28183000-28184000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:28183200-28183600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:28183200-28183600	Enhancers	HMEC	breast
15	chr6:28183200-28183600	Bivalent/Poised TSS	HUVEC	blood vessel
16	chr6:28183200-28183800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:28183200-28183800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:28183200-28184000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:28183200-28184000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr6:28183200-28184000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:28183200-28184000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:28183400-28183600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr6:28183400-28183600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr6:28183400-28183600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
25	chr6:28183400-28183600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:28183400-28183600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:28183400-28183600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
28	chr6:28183400-28183600	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr6:28183400-28183800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:28183400-28183800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr6:28183400-28183800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
32	chr6:28183400-28183800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr6:28183400-28183800	Bivalent Enhancer	HepG2	liver
34	chr6:28183400-28183800	Active TSS	NHEK	skin
35	chr6:28183400-28184200	Active TSS	K562	blood
36	chr6:28183400-28184800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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