Variant report

Variant	rs16933148
Chromosome Location	chr8:67962592-67962593
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	chr8:67954083..67956145-chr8:67960626..67964326,3	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1138476	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986053	1.00[CHB][hapmap]
rs11986982	1.00[CEU][hapmap]
rs11988175	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11989855	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11990088	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990461	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs11992605	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs11992626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995853	0.81[EUR][1000 genomes]
rs11997189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997404	1.00[CEU][hapmap]
rs1466283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs16919053	0.82[MEX][hapmap]
rs16933065	1.00[ASN][1000 genomes]
rs16933071	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933092	1.00[CEU][hapmap]
rs16933094	1.00[CEU][hapmap]
rs16933097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs16933125	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16933138	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs16933139	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs16933162	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs16933170	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs16933173	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs16933178	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933182	1.00[CEU][hapmap]
rs16933190	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs2290585	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs2305672	0.82[MEX][hapmap]
rs2305673	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs28377622	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3779995	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs55783506	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55908039	0.84[EUR][1000 genomes]
rs55993413	0.84[EUR][1000 genomes]
rs56041142	1.00[ASN][1000 genomes]
rs56070137	0.84[EUR][1000 genomes]
rs56115408	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56717011	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56902031	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57530222	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57931195	0.84[EUR][1000 genomes]
rs58160220	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58307420	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59061775	0.83[EUR][1000 genomes]
rs60167783	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60624770	0.96[EUR][1000 genomes]
rs60964596	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61476700	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61552467	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984447	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs6984568	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs6984650	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs6990298	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs7004549	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009678	1.00[CEU][hapmap];0.82[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691159	0.91[EUR][1000 genomes]
rs73691161	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691183	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691187	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691188	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691189	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691190	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691191	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691194	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693106	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693110	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693114	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693117	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693129	0.92[EUR][1000 genomes]
rs73693136	0.84[EUR][1000 genomes]
rs73693148	0.81[EUR][1000 genomes]
rs73693149	0.84[EUR][1000 genomes]
rs73693150	0.84[EUR][1000 genomes]
rs73693151	0.84[EUR][1000 genomes]
rs7461383	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs7816746	0.87[EUR][1000 genomes]
rs7819894	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs7819895	1.00[CEU][hapmap]
rs7824775	1.00[CEU][hapmap]
rs7831052	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs7834516	1.00[CEU][hapmap]
rs7841884	1.00[CEU][hapmap];0.82[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802652	chr8:67894007-67964309	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr8:67941600-67963000	Weak transcription	Fetal Heart	heart
2	chr8:67952400-67973400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:67952600-67972000	Weak transcription	Stomach Mucosa	stomach
4	chr8:67952800-67962600	Weak transcription	Esophagus	oesophagus
5	chr8:67952800-67972000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:67952800-67973600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:67953000-67972800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:67953200-67966600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr8:67953400-67971600	Strong transcription	Fetal Intestine Large	intestine
10	chr8:67953600-67967000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:67953600-67971400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:67953600-67971600	Strong transcription	Liver	Liver
13	chr8:67953600-67971800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:67953600-67972000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:67953600-67972200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr8:67953800-67966000	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr8:67953800-67971600	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:67953800-67971800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:67953800-67971800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:67953800-67972000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:67953800-67972200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr8:67953800-67972200	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr8:67953800-67972400	Strong transcription	Placenta	Placenta
24	chr8:67953800-67972800	Strong transcription	Fetal Thymus	thymus
25	chr8:67954000-67965400	Strong transcription	Primary T cells from cord blood	blood
26	chr8:67954000-67971400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:67954000-67971800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr8:67954000-67972200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr8:67954200-67971600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:67954200-67972400	Strong transcription	Fetal Lung	lung
31	chr8:67954400-67970600	Strong transcription	Brain Anterior Caudate	brain
32	chr8:67954400-67971400	Strong transcription	Dnd41	blood
33	chr8:67954400-67971600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr8:67954400-67971800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:67954400-67972200	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:67954400-67972400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:67954600-67966000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr8:67954600-67971200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:67954600-67971400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:67954600-67971400	Strong transcription	Brain Cingulate Gyrus	brain
41	chr8:67954600-67972000	Strong transcription	Adipose Nuclei	Adipose
42	chr8:67954600-67972400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:67954600-67972600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr8:67954800-67971600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:67954800-67971600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:67954800-67971800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:67954800-67972000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:67954800-67972600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:67954800-67972600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:67955400-67964400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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