Variant report

Variant	rs5999111
Chromosome Location	chr22:34208570-34208571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1013337	0.93[ASW][hapmap];0.92[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs1018786	0.83[CHD][hapmap];0.93[YRI][hapmap]
rs10427812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11912570	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11912964	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12157658	0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs1573654	0.83[CHD][hapmap];1.00[YRI][hapmap]
rs16993101	0.87[ASW][hapmap];0.92[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs17735056	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17808509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17808694	0.85[EUR][1000 genomes]
rs17808744	0.82[CEU][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs2267283	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267284	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267287	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267289	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267295	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2899212	1.00[YRI][hapmap]
rs4821182	0.93[YRI][hapmap]
rs4821186	0.83[CHD][hapmap]
rs5994799	0.91[AFR][1000 genomes]
rs5999104	0.83[YRI][hapmap];0.88[AFR][1000 genomes]
rs5999112	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs62225419	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225420	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225421	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225422	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62225423	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225435	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225437	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225438	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225440	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62225441	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225442	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225443	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225445	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225446	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225447	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225448	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225450	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225451	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225452	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225453	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225454	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225455	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62227774	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62227775	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62227778	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62227781	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62227784	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62227785	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62227786	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62227787	0.85[EUR][1000 genomes]
rs62227788	0.84[EUR][1000 genomes]
rs62227789	0.84[EUR][1000 genomes]
rs7292121	0.80[ASW][hapmap];0.86[YRI][hapmap]
rs9619375	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv459878	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv588936	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv914992	chr22:34135007-34283144	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv524156	chr22:34145596-34260738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1064781	chr22:34152145-34231792	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv529886	chr22:34153740-34258847	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv526550	chr22:34204930-34221959	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1056001	chr22:34206144-34221959	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34197800-34212200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr22:34200600-34234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:34204800-34211400	Weak transcription	Brain Germinal Matrix	brain
4	chr22:34204800-34212200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr22:34205200-34209200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr22:34205800-34209000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr22:34205800-34209600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr22:34206000-34208800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr22:34206200-34208800	Enhancers	Psoas Muscle	Psoas
10	chr22:34206200-34208800	Enhancers	Right Atrium	heart
11	chr22:34206200-34209200	Enhancers	Left Ventricle	heart
12	chr22:34206400-34208600	Enhancers	Colon Smooth Muscle	Colon
13	chr22:34206400-34208800	Enhancers	Fetal Stomach	stomach
14	chr22:34206400-34209000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr22:34206400-34209000	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr22:34206400-34209200	Enhancers	Right Ventricle	heart
17	chr22:34206600-34208800	Enhancers	Stomach Smooth Muscle	stomach
18	chr22:34207000-34208600	Enhancers	Rectal Smooth Muscle	rectum
19	chr22:34207000-34208600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr22:34207000-34208600	Enhancers	NHLF	lung
21	chr22:34207000-34208800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr22:34207000-34208800	Enhancers	Fetal Muscle Leg	muscle
23	chr22:34207000-34209800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr22:34207200-34208600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:34207200-34208600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr22:34207200-34208600	Enhancers	NHDF-Ad	bronchial
27	chr22:34207200-34208800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr22:34207200-34209000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:34207200-34209200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:34207200-34209200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr22:34207200-34209400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr22:34207400-34208800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:34207400-34208800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:34207600-34208800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr22:34207600-34208800	Enhancers	Primary B cells from peripheral blood	blood
36	chr22:34207600-34215600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr22:34207800-34208600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr22:34207800-34208600	Enhancers	GM12878-XiMat	blood
39	chr22:34207800-34208800	Enhancers	Pancreas	Pancrea
40	chr22:34208000-34208600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr22:34208000-34208600	Enhancers	Colonic Mucosa	Colon
42	chr22:34208000-34209200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:34208200-34208600	Enhancers	Fetal Muscle Trunk	muscle
44	chr22:34208200-34208600	Enhancers	Lung	lung
45	chr22:34208200-34208600	Enhancers	Stomach Mucosa	stomach
46	chr22:34208200-34208800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr22:34208200-34209000	Enhancers	Liver	Liver
48	chr22:34208200-34209200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr22:34208200-34219600	Weak transcription	Aorta	Aorta
50	chr22:34208400-34208600	Enhancers	Cortex derived primary cultured neurospheres	brain

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