Variant report

Variant	rs3731207
Chromosome Location	chr9:21987353-21987354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2069419	1.00[AMR][1000 genomes]
rs3731225	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3731229	0.87[YRI][hapmap]
rs3731232	1.00[YRI][hapmap]
rs3731243	0.87[YRI][hapmap]
rs55796448	1.00[AMR][1000 genomes]
rs7027610	1.00[AMR][1000 genomes]
rs73649993	1.00[AMR][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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21986800-21987400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:21986800-21987400	Active TSS	Osteobl	bone
3	chr9:21986800-21987600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
4	chr9:21986800-21987600	Active TSS	NHEK	skin
5	chr9:21986800-21987800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:21986800-21987800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:21986800-21988000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:21986800-21988000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:21986800-21988200	Active TSS	Hela-S3	cervix
10	chr9:21986800-21988400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:21987000-21987400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:21987000-21987400	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood
13	chr9:21987000-21987400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
14	chr9:21987000-21987400	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr9:21987000-21987400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:21987000-21987400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:21987000-21987400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
18	chr9:21987000-21987400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
19	chr9:21987000-21987400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
20	chr9:21987000-21987400	Flanking Active TSS	GM12878-XiMat	blood
21	chr9:21987000-21987400	Flanking Active TSS	HSMMtube	muscle
22	chr9:21987000-21987400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
23	chr9:21987000-21987600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:21987000-21987600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr9:21987000-21987600	Active TSS	HSMM	muscle
26	chr9:21987000-21987800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:21987000-21987800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr9:21987000-21987800	Active TSS	HMEC	breast
29	chr9:21987000-21988000	Flanking Active TSS	NH-A	brain
30	chr9:21987000-21988400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:21987000-21988800	Active TSS	NHLF	lung
32	chr9:21987000-21989400	Active TSS	NHDF-Ad	bronchial
33	chr9:21987200-21987400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:21987200-21987400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr9:21987200-21987600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:21987200-21987600	Flanking Active TSS	Dnd41	blood
37	chr9:21987200-21992800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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