Variant report

Variant	rs6706036
Chromosome Location	chr2:191464730-191464731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10165399	0.83[YRI][hapmap]
rs10169169	0.81[EUR][1000 genomes]
rs10171376	0.88[CEU][hapmap];0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs10173975	0.81[EUR][1000 genomes]
rs10179262	0.83[CEU][hapmap];0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs10185147	0.82[CHB][hapmap]
rs10185228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189140	0.81[EUR][1000 genomes]
rs10208737	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs10209340	0.83[CEU][hapmap];0.82[CHB][hapmap]
rs10737936	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11553601	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs13031452	0.81[EUR][1000 genomes]
rs13384743	0.82[CEU][hapmap];0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs13386210	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs13388162	0.83[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs13395233	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs13398741	0.83[CEU][hapmap];0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs13405215	0.81[EUR][1000 genomes]
rs13410179	0.82[CHB][hapmap];0.84[GIH][hapmap];0.84[MEX][hapmap]
rs13412663	0.82[CHB][hapmap]
rs13417310	0.81[EUR][1000 genomes]
rs13418943	0.80[EUR][1000 genomes]
rs13429315	0.80[EUR][1000 genomes]
rs3811608	0.83[CEU][hapmap];0.82[CHB][hapmap]
rs4283453	0.82[CHB][hapmap];0.84[GIH][hapmap];0.84[MEX][hapmap]
rs4853712	0.82[CHB][hapmap]
rs4853719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58210597	0.81[EUR][1000 genomes]
rs58253207	0.81[EUR][1000 genomes]
rs6434401	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741118	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73054092	0.81[EUR][1000 genomes]
rs7556716	0.83[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs7560045	0.81[EUR][1000 genomes]
rs7562013	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs7564107	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs7574844	0.81[EUR][1000 genomes]
rs7584379	0.81[EUR][1000 genomes]
rs7594994	0.80[CEU][hapmap];0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs7609330	0.83[CEU][hapmap];0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs894072	0.82[CHB][hapmap]
rs8962	0.83[CEU][hapmap];0.82[CHB][hapmap]
rs9288174	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs9967829	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]

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	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6706036	MFSD6	cis	lymphoblastoid	seeQTL
rs6706036	FLJ20160	cis	multi-tissue	Pritchard
rs6706036	MFSD6	cis	parietal	SCAN
rs6706036	TMEM194B	cis	cerebellum	SCAN
rs6706036	FLJ20160	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191450400-191469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:191450600-191467000	Weak transcription	Brain Substantia Nigra	brain
3	chr2:191450600-191467200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:191456600-191465000	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:191456600-191491800	Weak transcription	Aorta	Aorta
6	chr2:191457000-191471600	Weak transcription	Psoas Muscle	Psoas
7	chr2:191457200-191467000	Weak transcription	Brain Angular Gyrus	brain
8	chr2:191458400-191468200	Weak transcription	Left Ventricle	heart
9	chr2:191461600-191464800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:191461600-191464800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:191462000-191471600	Weak transcription	Fetal Lung	lung
12	chr2:191462000-191471600	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:191463000-191465400	Enhancers	Hela-S3	cervix
14	chr2:191463200-191465400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:191463400-191464800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:191463400-191465000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:191463600-191464800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr2:191463600-191464800	Enhancers	GM12878-XiMat	blood
19	chr2:191463600-191465400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:191463600-191468800	Weak transcription	Brain Anterior Caudate	brain
21	chr2:191463800-191465400	Enhancers	Primary T cells from cord blood	blood
22	chr2:191463800-191465800	Enhancers	A549	lung
23	chr2:191463800-191467200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:191463800-191470600	Weak transcription	HMEC	breast
25	chr2:191464000-191465400	Enhancers	Colon Smooth Muscle	Colon
26	chr2:191464200-191465800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:191464400-191464800	Enhancers	Fetal Kidney	kidney
28	chr2:191464400-191464800	Enhancers	Right Atrium	heart
29	chr2:191464400-191465200	Enhancers	Fetal Heart	heart
30	chr2:191464600-191464800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:191464600-191464800	Enhancers	Lung	lung
32	chr2:191464600-191465000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:191464600-191465000	Enhancers	Gastric	stomach
34	chr2:191464600-191465000	Enhancers	Right Ventricle	heart
35	chr2:191464600-191465400	Enhancers	Stomach Mucosa	stomach
36	chr2:191464600-191465600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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