Variant report

Variant	rs3799571
Chromosome Location	chr6:167030577-167030578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167028450..167030849-chr6:167031302..167033259,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10946178	1.00[CEU][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs12196315	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12199983	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12203904	1.00[CEU][hapmap];0.96[GIH][hapmap];0.85[MEX][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12204787	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3778367	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3778369	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3778370	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3778371	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3778372	0.88[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];0.95[LWK][hapmap];0.88[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3778373	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3778375	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3799566	0.94[CEU][hapmap];0.88[MEX][hapmap];0.82[EUR][1000 genomes]
rs3799570	0.94[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58727224	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60145177	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6456097	0.94[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6456098	0.88[ASW][hapmap];0.94[CEU][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.86[MKK][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6916042	0.80[EUR][1000 genomes]
rs6929319	0.89[EUR][1000 genomes]
rs72503823	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs873070	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs873071	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs874153	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs916389	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9356498	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs9366034	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs9459701	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023649	chr6:167026469-167060732	Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3799571	OSTN	trans	parietal	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167012400-167034400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:167013200-167031000	Weak transcription	Fetal Intestine Small	intestine
3	chr6:167016000-167034400	Weak transcription	Aorta	Aorta
4	chr6:167016600-167032800	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:167017200-167032200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:167022800-167031200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:167023600-167033200	Weak transcription	Primary B cells from cord blood	blood
8	chr6:167023800-167031600	Weak transcription	Fetal Brain Female	brain
9	chr6:167024000-167032400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:167024000-167033600	Weak transcription	Fetal Brain Male	brain
11	chr6:167024200-167032800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:167024800-167031800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr6:167025200-167030600	Enhancers	Left Ventricle	heart
14	chr6:167025400-167034800	Enhancers	Ovary	ovary
15	chr6:167025600-167031400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:167025600-167034200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr6:167025800-167030600	Enhancers	Right Ventricle	heart
18	chr6:167026200-167031800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:167026400-167033000	Weak transcription	Fetal Lung	lung
20	chr6:167027000-167031000	Weak transcription	Fetal Kidney	kidney
21	chr6:167027200-167031800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr6:167027400-167030600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:167027400-167031200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr6:167027600-167031200	Enhancers	HUVEC	blood vessel
25	chr6:167027800-167030600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:167027800-167030600	Enhancers	Brain Angular Gyrus	brain
27	chr6:167028000-167030600	Enhancers	Psoas Muscle	Psoas
28	chr6:167028200-167035400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:167028600-167031600	Weak transcription	Fetal Intestine Large	intestine
30	chr6:167028600-167034600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr6:167028800-167031600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:167028800-167032000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:167028800-167033400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:167028800-167033400	Weak transcription	Stomach Mucosa	stomach
35	chr6:167029000-167031600	Weak transcription	NHEK	skin
36	chr6:167029000-167032200	Weak transcription	HSMMtube	muscle
37	chr6:167029200-167031000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:167029200-167031000	Weak transcription	Osteobl	bone
39	chr6:167029200-167032200	Strong transcription	Fetal Stomach	stomach
40	chr6:167029200-167032400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:167029200-167032800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:167029200-167032800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:167029200-167033000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:167029200-167033400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:167029200-167034400	Weak transcription	Colonic Mucosa	Colon
46	chr6:167029200-167039000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:167029400-167030800	Weak transcription	NHLF	lung
48	chr6:167029400-167031000	Weak transcription	NH-A	brain
49	chr6:167029400-167031400	Weak transcription	HSMM	muscle
50	chr6:167029400-167031600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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