Variant report

Variant	rs12207011
Chromosome Location	chr6:133142505-133142506
allele	C/T
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:133141835..133144313-chr6:133156927..133159674,3	K562	blood:
2	chr6:133140267..133142584-chr6:133384243..133385857,2	MCF-7	breast:
3	chr6:133142358..133145641-chr6:133228438..133230524,3	K562	blood:
4	chr6:133140438..133142973-chr6:133152186..133155729,4	K562	blood:
5	chr6:133141421..133143505-chr6:133285598..133287166,2	MCF-7	breast:
6	chr6:133111344..133113707-chr6:133142113..133144354,2	K562	blood:
7	chr6:133093368..133095334-chr6:133141299..133145047,3	K562	blood:
8	chr6:133140710..133143536-chr6:133169760..133172712,2	K562	blood:
9	chr6:133142048..133144415-chr6:133161174..133163996,2	MCF-7	breast:
10	chr6:133008525..133010705-chr6:133141120..133143788,2	K562	blood:
11	chr6:133142164..133143821-chr6:133206466..133209266,2	MCF-7	breast:
12	chr6:133139563..133143378-chr6:133869645..133873437,4	K562	blood:
13	chr6:133142071..133143902-chr6:133355082..133357821,2	MCF-7	breast:
14	chr6:133140291..133143900-chr6:133848629..133850657,3	MCF-7	breast:
15	chr16:69363165..69365715-chr6:133141227..133142779,2	MCF-7	breast:
16	chr6:132849284..132852259-chr6:133140271..133142677,3	MCF-7	breast:
17	chr6:133140672..133145394-chr6:133829879..133833202,4	K562	blood:
18	chr6:133140486..133142664-chr6:133322602..133325155,3	K562	blood:
19	chr6:133139381..133142834-chr6:134271951..134274965,4	K562	blood:
20	chr6:132976419..132978417-chr6:133140501..133142676,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227954	Chromatin interaction
ENSG00000028839	Chromatin interaction
ENSG00000238059	Chromatin interaction
ENSG00000258429	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10457591	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10457593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457595	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457596	0.85[CEU][hapmap]
rs10484628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11154698	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1128998	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11758796	0.81[ASN][1000 genomes]
rs12190684	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191058	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193474	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12194625	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12194802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195249	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12196336	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12197430	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12198970	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12199381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12200848	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201540	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201769	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12202407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203738	0.92[ASN][1000 genomes]
rs12204027	1.00[CHB][hapmap]
rs12204693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12209144	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12211425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212934	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12215084	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215088	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12215486	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17061751	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143387	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2294761	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28693848	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28706652	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3778173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813347	1.00[JPT][hapmap]
rs55708537	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55959738	0.85[ASN][1000 genomes]
rs56170227	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58265543	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59543333	0.82[EUR][1000 genomes]
rs60062075	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60412119	0.85[ASN][1000 genomes]
rs62425110	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425113	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425114	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425133	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425137	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62426668	0.81[ASN][1000 genomes]
rs62426674	0.81[ASN][1000 genomes]
rs6934161	1.00[CHB][hapmap]
rs9375919	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9389032	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9389033	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9402452	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9402453	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9402455	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9493445	1.00[CHB][hapmap]
rs9493446	1.00[CHB][hapmap]

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
rs12207011	C6orf192	Cis_1M	lymphoblastoid	RTeQTL
rs12207011	C6orf192	cis	multi-tissue	Pritchard

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133137200-133145400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:133137800-133143600	Weak transcription	Right Atrium	heart
3	chr6:133138400-133144400	Weak transcription	Stomach Mucosa	stomach
4	chr6:133138600-133142600	Strong transcription	Primary T cells from cord blood	blood
5	chr6:133138800-133144400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:133139400-133143400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:133139400-133146400	Weak transcription	Psoas Muscle	Psoas
8	chr6:133139600-133143400	Weak transcription	Esophagus	oesophagus
9	chr6:133139600-133144200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr6:133139600-133145400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:133139800-133145400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:133140600-133142600	Weak transcription	Fetal Heart	heart
13	chr6:133140600-133142600	Weak transcription	Dnd41	blood
14	chr6:133140600-133143600	Weak transcription	Pancreas	Pancrea
15	chr6:133140800-133142600	Weak transcription	GM12878-XiMat	blood
16	chr6:133140800-133144400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr6:133140800-133153800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:133141000-133142600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr6:133141000-133142600	Weak transcription	Thymus	Thymus
20	chr6:133141000-133142600	Weak transcription	HUVEC	blood vessel
21	chr6:133141000-133143400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr6:133141000-133143400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:133141000-133143600	Weak transcription	Aorta	Aorta
24	chr6:133141000-133143800	Weak transcription	Ovary	ovary
25	chr6:133141000-133144000	Weak transcription	Fetal Intestine Small	intestine
26	chr6:133141000-133144200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:133141000-133144200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:133141000-133144200	Weak transcription	Brain Anterior Caudate	brain
29	chr6:133141000-133144200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr6:133141200-133142600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:133141200-133142600	Enhancers	K562	blood
32	chr6:133141200-133142800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:133141200-133142800	Weak transcription	Brain Germinal Matrix	brain
34	chr6:133141200-133142800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr6:133141200-133142800	Weak transcription	Placenta	Placenta
36	chr6:133141200-133143000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:133141200-133143200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:133141200-133143600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:133141200-133143600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr6:133141200-133143600	Weak transcription	Spleen	Spleen
41	chr6:133141200-133144000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:133141200-133144200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr6:133141200-133144200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:133141200-133144200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:133141200-133144200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr6:133141200-133144400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:133141200-133144400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:133141200-133145600	Weak transcription	Liver	Liver
49	chr6:133141200-133145600	Weak transcription	HepG2	liver
50	chr6:133141400-133143000	Weak transcription	Fetal Intestine Large	intestine

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