Variant report

Variant	rs17022112
Chromosome Location	chr3:85010889-85010890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11127869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12485289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12489021	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12632010	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12637056	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17022119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17022138	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17022236	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17022250	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17022300	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1872554	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2172846	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2200466	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2220245	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2326121	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55916509	0.94[ASN][1000 genomes]
rs62250601	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6789062	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72029051	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7646952	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381298	chr3:84689266-85030314	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1002058	chr3:84757044-85389876	Bivalent Enhancer Enhancers Active TSS Weak transcription 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	8 gene(s)	inside rSNPs	diseases
3	nsv1001316	chr3:84773522-85071342	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv877091	chr3:84876250-85069287	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv482371	chr3:84880813-85031486	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv471620	chr3:84880814-85031486	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1829788	chr3:84926769-85086403	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1010140	chr3:84997012-85034281	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85007200-85011800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr3:85007200-85012400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr3:85007200-85012600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:85007400-85011200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:85007400-85011600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr3:85007400-85012000	Active TSS	Brain Cingulate Gyrus	brain
7	chr3:85007600-85011000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:85007600-85011200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:85007600-85012200	Active TSS	Brain Anterior Caudate	brain
10	chr3:85007800-85011200	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr3:85007800-85011400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:85007800-85011400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:85007800-85012000	Active TSS	Brain Hippocampus Middle	brain
14	chr3:85007800-85012200	Active TSS	Brain Substantia Nigra	brain
15	chr3:85007800-85012600	Active TSS	Brain Angular Gyrus	brain
16	chr3:85008600-85011000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr3:85008600-85011000	Bivalent Enhancer	Fetal Heart	heart
18	chr3:85008600-85011200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:85008800-85011000	Active TSS	Right Atrium	heart
20	chr3:85009200-85011000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:85009200-85011200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:85009200-85011200	Active TSS	Psoas Muscle	Psoas
23	chr3:85009200-85011200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
24	chr3:85009400-85011000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:85009400-85011000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:85009400-85011200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr3:85009400-85012000	Active TSS	Brain Germinal Matrix	brain
28	chr3:85009800-85011000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr3:85009800-85011000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr3:85009800-85011000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr3:85009800-85011200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:85010200-85011600	Active TSS	Fetal Brain Female	brain
33	chr3:85010400-85011000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
34	chr3:85010400-85011000	Bivalent/Poised TSS	NH-A	brain
35	chr3:85010600-85011000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:85010600-85011000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
37	chr3:85010600-85011000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr3:85010600-85011000	Flanking Active TSS	Fetal Brain Male	brain
39	chr3:85010600-85011000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
40	chr3:85010600-85011000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr3:85010600-85011000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
42	chr3:85010600-85011000	Enhancers	Spleen	Spleen
43	chr3:85010800-85011000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:85010800-85011000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:85010800-85011000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr3:85010800-85011000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr3:85010800-85011000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
48	chr3:85010800-85011200	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr3:85010800-85011200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr3:85010800-85011200	Bivalent Enhancer	Fetal Muscle Leg	muscle

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