Variant report

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28180865..28183340-chr6:28228825..28231312,2	K562	blood:
2	chr6:28175915..28177544-chr6:28181092..28183263,2	K562	blood:
3	chr6:28170074..28175450-chr6:28180913..28183647,5	K562	blood:
4	chr6:27913399..27915263-chr6:28181371..28183189,2	K562	blood:
5	chr6:28175786..28178014-chr6:28179307..28182825,4	MCF-7	breast:
6	chr6:27856891..27858596-chr6:28180873..28182467,2	K562	blood:
7	chr6:28180889..28183569-chr6:28191769..28194377,3	MCF-7	breast:
8	chr6:28103775..28113920-chr6:28177995..28190115,32	K562	blood:
9	chr6:28181184..28183073-chr6:28320886..28323037,2	K562	blood:
10	chr6:28182366..28191375-chr6:28300021..28306741,17	K562	blood:
11	chr6:28180671..28183155-chr6:28250254..28252159,2	K562	blood:
12	chr6:28126773..28130386-chr6:28178914..28182864,4	K562	blood:
13	chr6:27787686..27790389-chr6:28180656..28184025,3	MCF-7	breast:

No data

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

rs_ID	r²[population]
rs11755032	0.82[ASN][1000 genomes]
rs1339899	0.81[ASN][1000 genomes]
rs13437126	0.95[EUR][1000 genomes]
rs16893735	0.95[EUR][1000 genomes]
rs1778507	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3734571	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4713138	0.95[EUR][1000 genomes]
rs61127718	0.81[AMR][1000 genomes]
rs6920512	0.84[ASN][1000 genomes]
rs9295765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357064	0.95[EUR][1000 genomes]
rs9366717	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9393889	0.95[EUR][1000 genomes]
rs9393902	0.95[EUR][1000 genomes]
rs9393908	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9461439	0.95[EUR][1000 genomes]
rs9461446	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9461448	0.82[ASN][1000 genomes]
rs9461449	0.82[ASN][1000 genomes]
rs9468301	0.95[EUR][1000 genomes]
rs9468321	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9468322	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9468325	1.00[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9295767	RP1-313I6.12	cis	Thyroid	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28180800-28183200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:28180800-28186400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:28181000-28183000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:28181000-28183200	Weak transcription	Right Atrium	heart
5	chr6:28181000-28185400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:28181200-28182800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:28181200-28182800	Enhancers	Hela-S3	cervix
8	chr6:28181200-28183000	Weak transcription	HepG2	liver
9	chr6:28181200-28183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:28181200-28183200	Weak transcription	HMEC	breast
11	chr6:28181400-28182800	Weak transcription	K562	blood
12	chr6:28181400-28183000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:28181400-28183200	Weak transcription	NHEK	skin
14	chr6:28181400-28186000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:28181400-28186000	Weak transcription	HSMM	muscle
16	chr6:28181600-28185600	Weak transcription	GM12878-XiMat	blood
17	chr6:28182200-28183400	Enhancers	Rectal Mucosa Donor 31	rectum

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