Variant report

Variant	rs62425109
Chromosome Location	chr6:133120782-133120783
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:133120760-133120910	HCFaa	heart:	n/a	n/a
2	GATA1	chr6:133119408-133121033	PBDE	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:133080844..133083243-chr6:133120275..133122727,2	K562	blood:
2	chr6:133119880..133121448-chr6:133122542..133124062,2	MCF-7	breast:
3	chr6:133084618..133086907-chr6:133118822..133121566,2	K562	blood:
4	chr6:133117688..133126502-chr6:133133829..133139054,19	MCF-7	breast:
5	chr6:133118544..133124606-chr6:133132137..133138834,13	MCF-7	breast:
6	chr6:132832611..132834291-chr6:133118787..133121672,2	K562	blood:

No data

Variant related genes	Relation type
SLC18B1	TF binding region
ENSG00000112306	Chromatin interaction
ENSG00000221500	Chromatin interaction
ENSG00000271488	Chromatin interaction
ENSG00000206754	Chromatin interaction
ENSG00000200534	Chromatin interaction
ENSG00000079950	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10457593	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12194625	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12194802	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12197430	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12201540	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12201769	0.83[EUR][1000 genomes]
rs12204693	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12204863	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12215084	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12215486	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2294761	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs28706652	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62425133	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9375919	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9402452	0.88[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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62425109	C6orf192	cis	multi-tissue	Pritchard
rs62425109	C6orf192	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133120200-133120800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
2	chr6:133120400-133120800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr6:133120400-133120800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:133120400-133120800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
5	chr6:133120400-133120800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:133120400-133120800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:133120400-133120800	Enhancers	Pancreas	Pancrea
8	chr6:133120400-133120800	Flanking Active TSS	HMEC	breast
9	chr6:133120400-133121000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:133120400-133121000	Enhancers	Primary B cells from peripheral blood	blood
11	chr6:133120400-133121000	Enhancers	Placenta	Placenta
12	chr6:133120400-133121200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:133120400-133121200	Flanking Active TSS	K562	blood
14	chr6:133120400-133126200	Weak transcription	Fetal Heart	heart
15	chr6:133120600-133120800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:133120600-133120800	Enhancers	Liver	Liver
17	chr6:133120600-133120800	Enhancers	Fetal Intestine Large	intestine
18	chr6:133120600-133120800	Active TSS	HepG2	liver
19	chr6:133120600-133120800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr6:133120600-133120800	Enhancers	NHEK	skin
21	chr6:133120600-133121000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr6:133120600-133121000	Enhancers	Primary B cells from cord blood	blood
23	chr6:133120600-133121000	Enhancers	Primary T cells from cord blood	blood
24	chr6:133120600-133121000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:133120600-133121000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr6:133120600-133121000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:133120600-133121000	Enhancers	Fetal Intestine Small	intestine
28	chr6:133120600-133121000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr6:133120600-133121000	Enhancers	Stomach Mucosa	stomach
30	chr6:133120600-133121000	Enhancers	Stomach Smooth Muscle	stomach
31	chr6:133120600-133121000	Enhancers	A549	lung
32	chr6:133120600-133121000	Enhancers	GM12878-XiMat	blood
33	chr6:133120600-133121200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:133120600-133121200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:133120600-133121400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr6:133120600-133121400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr6:133120600-133121400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr6:133120600-133121600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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