Variant report

No.	Distal block	Cell Line	Cell type
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:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1150717	0.93[EUR][1000 genomes]
rs1150719	0.93[EUR][1000 genomes]
rs1150720	0.93[EUR][1000 genomes]
rs11756111	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11757730	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11758148	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11758337	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1474589	0.80[EUR][1000 genomes]
rs16893817	0.81[AFR][1000 genomes]
rs16893937	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1778477	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1778478	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2185955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235359	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55831267	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6905368	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73740584	0.81[AFR][1000 genomes]
rs73740587	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs73742542	0.80[EUR][1000 genomes]
rs7741443	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7769054	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs993619	0.83[AFR][1000 genomes];0.82[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11751702	AL022393.7	cis	Thyroid	GTEx

Chromatin state (count:18 , 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	chr6:28227600-28229800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:28227600-28231600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:28227600-28231600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:28227600-28233600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:28227600-28233800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:28227600-28233800	Weak transcription	HMEC	breast
10	chr6:28227800-28231600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:28227800-28234400	Weak transcription	Right Atrium	heart
12	chr6:28228200-28229600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:28228200-28229800	Weak transcription	Right Ventricle	heart
14	chr6:28228200-28234600	Weak transcription	Left Ventricle	heart
15	chr6:28228400-28231400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:28228400-28233800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:28228400-28234000	Weak transcription	Psoas Muscle	Psoas
18	chr6:28229400-28230000	Enhancers	Skeletal Muscle Female	skeletal muscle

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