Variant report

Variant	rs11992397
Chromosome Location	chr8:42833161-42833162
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42826802..42828541-chr8:42831233..42833336,2	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10453137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10675533	0.87[EUR][1000 genomes]
rs11984488	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11984550	1.00[GIH][hapmap];0.87[MKK][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11984732	1.00[CEU][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs11986255	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11987452	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988102	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11988197	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11988227	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988823	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11990369	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11991133	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11991458	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11992567	1.00[CEU][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11992660	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11992682	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992987	0.82[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs11993667	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11994115	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs11994318	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995172	0.86[AFR][1000 genomes]
rs11995473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11995810	0.85[AFR][1000 genomes]
rs11996604	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11997992	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11998092	0.88[YRI][hapmap]
rs17622134	0.81[EUR][1000 genomes]
rs2194902	1.00[CEU][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28799623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28840077	0.86[AFR][1000 genomes]
rs34489103	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35506493	0.84[AFR][1000 genomes]
rs57363090	1.00[EUR][1000 genomes]
rs57797146	0.95[EUR][1000 genomes]
rs57986156	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58081556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58641534	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59164172	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59177170	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59213790	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59531993	0.81[EUR][1000 genomes]
rs60133450	0.86[AFR][1000 genomes]
rs60443202	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60555023	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60782941	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61224035	0.88[AFR][1000 genomes]
rs61733908	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6651368	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6651369	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7004940	1.00[EUR][1000 genomes]
rs7008140	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7010367	0.90[EUR][1000 genomes]
rs7016659	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs73627229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627250	0.90[AFR][1000 genomes]
rs73627252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627261	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627288	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627294	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73629103	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73629108	0.80[AFR][1000 genomes]
rs73629110	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629152	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629156	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629161	0.90[EUR][1000 genomes]
rs73629163	0.90[EUR][1000 genomes]
rs73629177	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629179	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629182	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629190	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629192	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629194	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73634652	0.84[AFR][1000 genomes]
rs73634666	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73634670	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73634673	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73634677	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73634682	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73634696	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73635313	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73635316	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73635325	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635331	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635345	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635357	0.88[AFR][1000 genomes]
rs73635362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635365	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7820326	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7838845	0.89[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
2	chr8:42796800-42846000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:42809200-42836800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:42809800-42842600	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:42810600-42845200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:42813200-42834600	Strong transcription	Dnd41	blood
7	chr8:42813200-42845800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:42813200-42846000	Weak transcription	Stomach Mucosa	stomach
9	chr8:42813800-42842000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:42813800-42846600	Strong transcription	Placenta	Placenta
11	chr8:42814000-42836800	Strong transcription	Fetal Intestine Large	intestine
12	chr8:42814200-42835800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:42814200-42840400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr8:42814400-42845800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr8:42814400-42846600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr8:42815200-42845600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:42815600-42835600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:42816000-42837600	Weak transcription	K562	blood
19	chr8:42816200-42846000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:42818200-42836000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:42818600-42834600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr8:42819200-42836400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:42819200-42848600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:42819400-42835000	Strong transcription	NH-A	brain
25	chr8:42819400-42836800	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:42819600-42844400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:42819800-42846800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:42821800-42848000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr8:42822000-42837800	Weak transcription	Fetal Kidney	kidney
30	chr8:42822600-42846600	Weak transcription	Psoas Muscle	Psoas
31	chr8:42823400-42844400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:42823400-42875600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:42824800-42874800	Weak transcription	Hela-S3	cervix
34	chr8:42826000-42845600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:42827000-42836000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:42827000-42844400	Strong transcription	Primary T cells from cord blood	blood
37	chr8:42827000-42845600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:42827200-42836400	Strong transcription	Liver	Liver
39	chr8:42827200-42840000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:42827200-42845200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:42827200-42848000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:42827600-42836000	Strong transcription	Brain Hippocampus Middle	brain
43	chr8:42827600-42836200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr8:42827600-42846600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:42827600-42848200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:42827800-42836600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:42828000-42842400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:42828600-42833200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:42828800-42833200	Strong transcription	Brain Germinal Matrix	brain
50	chr8:42828800-42836400	Strong transcription	Fetal Muscle Leg	muscle

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