Variant report

Variant	rs813812
Chromosome Location	chr6:119329558-119329559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119327639..119329995-chr6:119375600..119378343,2	K562	blood:
2	chr6:119326862..119329633-chr6:119330322..119332791,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11967399	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11967889	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12526935	0.88[ASN][1000 genomes]
rs1413906	0.87[ASN][1000 genomes]
rs1570493	0.88[ASN][1000 genomes]
rs17513308	0.89[ASN][1000 genomes]
rs1762200	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2051056	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2051057	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2295709	0.94[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap]
rs2357020	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2357030	0.88[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs2782575	0.97[ASN][1000 genomes]
rs2797352	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284919	0.94[CHB][hapmap]
rs2884078	0.88[CHB][hapmap];0.86[CHD][hapmap];0.89[ASN][1000 genomes]
rs4946383	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4946388	0.87[ASN][1000 genomes]
rs4946389	0.87[ASN][1000 genomes]
rs4946390	0.87[ASN][1000 genomes]
rs57100274	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57285368	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6910327	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs6910850	0.82[CHB][hapmap]
rs6931558	0.86[ASN][1000 genomes]
rs7742473	0.88[JPT][hapmap]
rs7756475	0.87[ASN][1000 genomes]
rs7764418	0.89[ASN][1000 genomes]
rs794259	0.80[JPT][hapmap]
rs794260	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794261	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs794262	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs794263	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs794264	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs794266	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs794614	1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs808028	0.87[ASN][1000 genomes]
rs9374777	0.88[CHB][hapmap];0.86[CHD][hapmap];0.84[ASN][1000 genomes]
rs9387629	0.88[ASN][1000 genomes]
rs9387630	0.86[ASN][1000 genomes]
rs9398499	0.88[ASN][1000 genomes]
rs9401113	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9401118	0.88[CHB][hapmap];0.86[CHD][hapmap];0.88[ASN][1000 genomes]
rs9481881	0.87[ASN][1000 genomes]
rs9489526	0.88[JPT][hapmap]
rs9489543	0.81[JPT][hapmap]
rs954753	0.87[ASN][1000 genomes]
rs962393	0.82[CHB][hapmap];0.88[JPT][hapmap]

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	nsv1030400	chr6:119320153-119433830	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs813812	MCM9	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119285800-119340000	Weak transcription	Fetal Brain Male	brain
2	chr6:119287400-119330000	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:119292400-119344000	Weak transcription	Brain Germinal Matrix	brain
4	chr6:119293200-119345400	Weak transcription	Lung	lung
5	chr6:119294200-119330800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:119300600-119344000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:119300800-119342600	Weak transcription	Brain Anterior Caudate	brain
8	chr6:119313000-119329800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:119314400-119364400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:119315400-119329800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:119315400-119330800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:119318600-119344200	Weak transcription	Fetal Lung	lung
13	chr6:119319400-119330200	Weak transcription	Ovary	ovary
14	chr6:119319600-119333600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:119319800-119342600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:119321800-119329800	Weak transcription	Fetal Intestine Large	intestine
17	chr6:119322600-119337800	Weak transcription	Placenta	Placenta
18	chr6:119324400-119331000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:119324400-119331000	Weak transcription	K562	blood
20	chr6:119324400-119333000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:119325200-119339800	Weak transcription	Primary T cells from cord blood	blood
22	chr6:119325400-119330600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:119325400-119349600	Weak transcription	Brain Angular Gyrus	brain
24	chr6:119326000-119330200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:119327600-119330200	Weak transcription	Adipose Nuclei	Adipose
26	chr6:119327800-119329600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:119327800-119329600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:119327800-119330200	Weak transcription	Fetal Brain Female	brain
29	chr6:119327800-119330800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr6:119328200-119330800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:119328600-119348800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:119329200-119331600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:119329200-119331600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:119329200-119343400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:119329400-119330200	ZNF genes & repeats	Liver	Liver
36	chr6:119329400-119332400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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