Variant report

Variant	rs6999489
Chromosome Location	chr8:42823480-42823481
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1052654	0.91[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1075478	0.80[ASW][hapmap]
rs11984732	0.91[ASW][hapmap];0.83[LWK][hapmap];0.94[MKK][hapmap];0.85[YRI][hapmap]
rs11986681	0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11987893	0.82[ASW][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];0.89[YRI][hapmap]
rs11990515	0.82[AMR][1000 genomes]
rs11992567	0.85[LWK][hapmap]
rs11997799	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13248091	0.84[CEU][hapmap];0.92[GIH][hapmap];0.88[TSI][hapmap]
rs13249741	0.92[EUR][1000 genomes]
rs13251524	0.89[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13252221	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs13256221	0.84[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs13257298	0.91[ASW][hapmap];0.85[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs13260731	0.84[CEU][hapmap]
rs13269584	0.84[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs13271956	0.84[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs13273189	0.90[EUR][1000 genomes]
rs13273989	0.92[EUR][1000 genomes]
rs13276426	0.92[EUR][1000 genomes]
rs13276821	0.90[EUR][1000 genomes]
rs13281651	0.89[EUR][1000 genomes]
rs13282019	0.84[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs16891663	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16891667	0.84[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17622577	0.84[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17622732	0.84[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs34044853	0.83[EUR][1000 genomes]
rs34100417	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34143633	0.84[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs34152125	0.84[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs34210297	0.84[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs34242561	0.84[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs34320052	0.92[EUR][1000 genomes]
rs34550994	0.92[EUR][1000 genomes]
rs34582788	0.90[EUR][1000 genomes]
rs34668583	0.88[EUR][1000 genomes]
rs34864660	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs35057982	0.90[EUR][1000 genomes]
rs35168459	0.90[EUR][1000 genomes]
rs35252795	0.82[ASW][hapmap];0.93[GIH][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];0.89[YRI][hapmap]
rs35390123	0.84[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs35491765	0.88[EUR][1000 genomes]
rs35823486	0.90[EUR][1000 genomes]
rs35959188	0.87[AMR][1000 genomes]
rs36026629	0.84[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs36091568	0.86[EUR][1000 genomes]
rs4524778	0.92[EUR][1000 genomes]
rs57652067	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs57797146	0.87[AFR][1000 genomes]
rs58729413	0.82[AMR][1000 genomes]
rs60292433	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs62515905	0.90[EUR][1000 genomes]
rs62515908	0.92[EUR][1000 genomes]
rs62515909	0.90[EUR][1000 genomes]
rs62515910	0.90[EUR][1000 genomes]
rs62515912	0.90[EUR][1000 genomes]
rs62515913	0.90[EUR][1000 genomes]
rs62515916	0.92[EUR][1000 genomes]
rs62515917	0.92[EUR][1000 genomes]
rs62515919	0.92[EUR][1000 genomes]
rs62515920	0.81[EUR][1000 genomes]
rs62515942	0.80[AFR][1000 genomes]
rs62515948	0.92[EUR][1000 genomes]
rs62515952	0.90[EUR][1000 genomes]
rs62517585	0.82[AMR][1000 genomes]
rs6996034	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7004940	0.87[AFR][1000 genomes]
rs7014595	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap]
rs7820326	0.85[YRI][hapmap]
rs7821062	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7829867	0.82[ASW][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs7838845	0.81[MKK][hapmap]

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:125 , 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	chr8:42795000-42825000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:42795800-42829800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:42796800-42846000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:42800400-42823600	Weak transcription	Hela-S3	cervix
6	chr8:42802200-42826200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:42803800-42824200	Strong transcription	HSMM	muscle
8	chr8:42805400-42829200	Weak transcription	Small Intestine	intestine
9	chr8:42809200-42836800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:42809600-42826400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:42809800-42842600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:42810000-42832000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:42810600-42845200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:42812200-42825800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:42812600-42825600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:42813200-42834600	Strong transcription	Dnd41	blood
17	chr8:42813200-42845800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:42813200-42846000	Weak transcription	Stomach Mucosa	stomach
19	chr8:42813400-42826400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:42813600-42825400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:42813600-42826600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:42813800-42824600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr8:42813800-42825000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:42813800-42825400	Strong transcription	Fetal Lung	lung
25	chr8:42813800-42828200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr8:42813800-42842000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:42813800-42846600	Strong transcription	Placenta	Placenta
28	chr8:42814000-42824800	Strong transcription	Liver	Liver
29	chr8:42814000-42836800	Strong transcription	Fetal Intestine Large	intestine
30	chr8:42814200-42823800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:42814200-42824000	Strong transcription	Brain Germinal Matrix	brain
32	chr8:42814200-42824600	Strong transcription	Fetal Thymus	thymus
33	chr8:42814200-42824800	Strong transcription	Primary T cells from cord blood	blood
34	chr8:42814200-42824800	Strong transcription	HSMMtube	muscle
35	chr8:42814200-42825000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr8:42814200-42826200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:42814200-42835800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr8:42814200-42840400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr8:42814400-42825800	Strong transcription	Adipose Nuclei	Adipose
40	chr8:42814400-42845800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr8:42814400-42846600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr8:42815200-42845600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:42815400-42824800	Strong transcription	Fetal Muscle Leg	muscle
44	chr8:42815600-42835600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:42816000-42829000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:42816000-42829600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:42816000-42837600	Weak transcription	K562	blood
48	chr8:42816200-42846000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr8:42816400-42829400	Weak transcription	Gastric	stomach
50	chr8:42816400-42830400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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