Variant report

Variant	rs62425133
Chromosome Location	chr6:133141795-133141796
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:132935279..132937061-chr6:133139072..133141964,2	K562	blood:
2	chr6:133139865..133142318-chr6:133176855..133179137,2	K562	blood:
3	chr6:133139552..133142163-chr6:133253017..133254972,3	K562	blood:
4	chr6:132990956..132993235-chr6:133139715..133142471,3	K562	blood:
5	chr6:133139209..133141849-chr6:133290608..133292386,2	MCF-7	breast:
6	chr6:133140267..133142584-chr6:133384243..133385857,2	MCF-7	breast:
7	chr6:133139979..133142138-chr6:133214137..133215920,2	MCF-7	breast:
8	chr6:133140432..133142390-chr6:133219540..133222428,2	MCF-7	breast:
9	chr3:64145733..64148089-chr6:133139687..133142420,2	MCF-7	breast:
10	chr6:133140438..133142973-chr6:133152186..133155729,4	K562	blood:
11	chr11:18417141..18419717-chr6:133139653..133142088,2	K562	blood:
12	chr6:133141421..133143505-chr6:133285598..133287166,2	MCF-7	breast:
13	chr6:133139807..133142163-chr6:133253017..133254906,2	K562	blood:
14	chr6:133093368..133095334-chr6:133141299..133145047,3	K562	blood:
15	chr6:133072472..133075164-chr6:133139801..133141888,2	K562	blood:
16	chr6:133140710..133143536-chr6:133169760..133172712,2	K562	blood:
17	chr6:133008525..133010705-chr6:133141120..133143788,2	K562	blood:
18	chr6:133139563..133143378-chr6:133869645..133873437,4	K562	blood:
19	chr15:34330929..34333080-chr6:133140289..133142201,2	MCF-7	breast:
20	chr6:133140291..133143900-chr6:133848629..133850657,3	MCF-7	breast:
21	chr16:69363165..69365715-chr6:133141227..133142779,2	MCF-7	breast:
22	chr6:132849284..132852259-chr6:133140271..133142677,3	MCF-7	breast:
23	chr6:133140672..133145394-chr6:133829879..133833202,4	K562	blood:
24	chr6:133140486..133142664-chr6:133322602..133325155,3	K562	blood:
25	chr6:133139605..133142425-chr6:133167716..133170536,3	MCF-7	breast:
26	chr6:133139130..133141825-chr6:133875719..133879392,4	MCF-7	breast:
27	chr6:133139381..133142834-chr6:134271951..134274965,4	K562	blood:
28	chr6:132976419..132978417-chr6:133140501..133142676,2	MCF-7	breast:
29	chr1:149223494..149225494-chr6:133139275..133142169,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227954	Chromatin interaction
ENSG00000238059	Chromatin interaction
ENSG00000028839	Chromatin interaction
ENSG00000169857	Chromatin interaction
ENSG00000134333	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000234484	Chromatin interaction
ENSG00000258429	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10457591	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10457593	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457595	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10484628	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11154698	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1128998	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11758796	0.81[ASN][1000 genomes]
rs12190684	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191058	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193474	0.88[ASN][1000 genomes]
rs12194625	0.85[EUR][1000 genomes]
rs12194802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195249	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12196336	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12197430	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12198970	0.92[ASN][1000 genomes]
rs12199381	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12200848	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201769	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12202407	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203738	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12204693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204740	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207011	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211425	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212934	0.92[ASN][1000 genomes]
rs12215084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215088	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12215486	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17061751	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143387	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2294761	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28693848	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28706652	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3778173	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778175	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41286194	1.00[AFR][1000 genomes]
rs55708537	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55959738	0.85[ASN][1000 genomes]
rs56170227	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58265543	0.93[ASN][1000 genomes]
rs60062075	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60412119	0.85[ASN][1000 genomes]
rs62425109	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62425110	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425113	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425114	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425132	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425137	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62426668	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs62426674	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9375919	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9389032	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9389033	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9402452	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9402453	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9402455	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv1806734	chr6:133125643-133168582	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62425133	C6orf192	cis	multi-tissue	Pritchard
rs62425133	C6orf192	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133137200-133145400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:133137800-133142200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:133137800-133142400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:133137800-133142400	Strong transcription	Stomach Smooth Muscle	stomach
5	chr6:133137800-133143600	Weak transcription	Right Atrium	heart
6	chr6:133138400-133142400	Strong transcription	Primary B cells from cord blood	blood
7	chr6:133138400-133144400	Weak transcription	Stomach Mucosa	stomach
8	chr6:133138600-133142000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
9	chr6:133138600-133142400	Strong transcription	Fetal Brain Female	brain
10	chr6:133138600-133142600	Strong transcription	Primary T cells from cord blood	blood
11	chr6:133138800-133142200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:133138800-133144400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:133139000-133142200	Strong transcription	Fetal Kidney	kidney
14	chr6:133139400-133142000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:133139400-133142000	Weak transcription	Hela-S3	cervix
16	chr6:133139400-133143400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:133139400-133146400	Weak transcription	Psoas Muscle	Psoas
18	chr6:133139600-133142000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:133139600-133142400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:133139600-133143400	Weak transcription	Esophagus	oesophagus
21	chr6:133139600-133144200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr6:133139600-133145400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:133139800-133141800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr6:133139800-133145400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:133140200-133142200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr6:133140600-133142400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr6:133140600-133142600	Weak transcription	Fetal Heart	heart
28	chr6:133140600-133142600	Weak transcription	Dnd41	blood
29	chr6:133140600-133143600	Weak transcription	Pancreas	Pancrea
30	chr6:133140800-133142000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr6:133140800-133142200	Enhancers	NHLF	lung
32	chr6:133140800-133142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:133140800-133142400	Weak transcription	Colonic Mucosa	Colon
34	chr6:133140800-133142400	Weak transcription	HMEC	breast
35	chr6:133140800-133142600	Weak transcription	GM12878-XiMat	blood
36	chr6:133140800-133144400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:133140800-133153800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:133141000-133141800	Weak transcription	A549	lung
39	chr6:133141000-133142000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:133141000-133142000	Weak transcription	Brain Substantia Nigra	brain
41	chr6:133141000-133142000	Weak transcription	Gastric	stomach
42	chr6:133141000-133142000	Weak transcription	Right Ventricle	heart
43	chr6:133141000-133142000	Weak transcription	NHDF-Ad	bronchial
44	chr6:133141000-133142000	Weak transcription	Osteobl	bone
45	chr6:133141000-133142400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:133141000-133142600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr6:133141000-133142600	Weak transcription	Thymus	Thymus
48	chr6:133141000-133142600	Weak transcription	HUVEC	blood vessel
49	chr6:133141000-133143400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr6:133141000-133143400	Weak transcription	Rectal Mucosa Donor 31	rectum

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