Variant report

Variant	rs3731211
Chromosome Location	chr9:21986847-21986848
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1333035	0.84[JPT][hapmap]
rs2027938	0.90[CEU][hapmap];0.94[JPT][hapmap]
rs2285327	0.84[JPT][hapmap]
rs2811708	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[ASN][1000 genomes]
rs2811712	0.81[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs3218002	0.81[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs3218005	0.81[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs3218007	0.87[ASN][1000 genomes]
rs3218010	0.84[JPT][hapmap]
rs3731217	0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs3731245	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs3808845	0.83[JPT][hapmap]
rs7036656	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs974336	0.81[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv892745	chr9:21857244-22006273	Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv1821117	chr9:21933029-22012229	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1018514	chr9:21944275-22075326	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv892746	chr9:21953137-22028801	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv3492902	chr9:21971026-22006145	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv3492901	chr9:21971095-22006263	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv892747	chr9:21984661-22068646	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Platelet counts	22139419	GWAS catalog

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21986400-21987000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:21986400-21987000	Enhancers	GM12878-XiMat	blood
3	chr9:21986400-21987000	Enhancers	NHLF	lung
4	chr9:21986600-21987000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:21986600-21987000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr9:21986600-21987000	Enhancers	HSMM	muscle
7	chr9:21986800-21987000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
8	chr9:21986800-21987000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr9:21986800-21987000	Enhancers	HSMMtube	muscle
10	chr9:21986800-21987000	Bivalent/Poised TSS	HUVEC	blood vessel
11	chr9:21986800-21987000	Enhancers	NH-A	brain
12	chr9:21986800-21987200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:21986800-21987200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
14	chr9:21986800-21987200	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr9:21986800-21987200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
16	chr9:21986800-21987400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:21986800-21987400	Active TSS	Osteobl	bone
18	chr9:21986800-21987600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
19	chr9:21986800-21987600	Active TSS	NHEK	skin
20	chr9:21986800-21987800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:21986800-21987800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:21986800-21988000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:21986800-21988000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:21986800-21988200	Active TSS	Hela-S3	cervix
25	chr9:21986800-21988400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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