Variant report

Variant	rs7833373
Chromosome Location	chr8:68048500-68048501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:68040930..68042442-chr8:68048471..68050684,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10504399	0.85[EUR][1000 genomes]
rs11557200	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986053	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986982	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988465	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992605	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997404	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12114202	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919053	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16933138	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933139	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933147	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933160	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16933162	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933170	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933173	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933182	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16933190	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16933204	0.85[EUR][1000 genomes]
rs16933214	0.85[EUR][1000 genomes]
rs2168542	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2290585	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2305672	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2305673	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28547325	0.82[EUR][1000 genomes]
rs3779995	0.82[EUR][1000 genomes]
rs3780131	0.90[EUR][1000 genomes]
rs55662680	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55737416	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs55745066	0.95[EUR][1000 genomes]
rs55865037	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55983978	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55986624	0.85[EUR][1000 genomes]
rs56101466	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs56858183	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs57101332	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57867847	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58448590	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58715460	0.85[EUR][1000 genomes]
rs59335949	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59634730	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59870074	0.81[EUR][1000 genomes]
rs60324950	0.90[EUR][1000 genomes]
rs60666237	0.82[EUR][1000 genomes]
rs60894518	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61193782	0.90[EUR][1000 genomes]
rs6982699	0.82[EUR][1000 genomes]
rs6984568	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984650	0.85[EUR][1000 genomes]
rs6987597	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987624	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990298	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6991974	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73691182	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691185	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691186	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691192	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691193	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693124	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73693135	0.84[EUR][1000 genomes]
rs73693152	0.90[EUR][1000 genomes]
rs73693153	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7461383	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812425	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812510	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7815863	0.82[EUR][1000 genomes]
rs7816827	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7819894	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7819895	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7822754	0.85[EUR][1000 genomes]
rs7824775	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7834516	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7841884	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842770	0.82[EUR][1000 genomes]
rs7846677	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]

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	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
2	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
3	esv1795021	chr8:67995266-68068812	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1846804	chr8:67995266-68074422	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1802127	chr8:67995266-68076723	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1022561	chr8:68011159-68129755	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1024156	chr8:68018110-68130602	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv539640	chr8:68018110-68130602	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1016128	chr8:68019177-68129755	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv1028249	chr8:68022357-68127243	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1029236	chr8:68022357-68129755	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1020062	chr8:68022357-68135111	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1025996	chr8:68025803-68129755	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv1019276	chr8:68026084-68130602	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv539641	chr8:68026084-68130602	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
16	nsv1026508	chr8:68038761-68135111	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67978200-68074400	Weak transcription	Esophagus	oesophagus
2	chr8:67978600-68074200	Weak transcription	Psoas Muscle	Psoas
3	chr8:67988200-68074800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr8:67990400-68074400	Weak transcription	Spleen	Spleen
5	chr8:67993400-68085000	Weak transcription	Aorta	Aorta
6	chr8:68008000-68062400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:68021000-68066800	Weak transcription	Lung	lung
8	chr8:68021000-68074400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:68021800-68048800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:68022600-68050800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:68022800-68090800	Weak transcription	Small Intestine	intestine
12	chr8:68024200-68092400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:68026000-68074400	Weak transcription	Gastric	stomach
14	chr8:68028400-68074400	Weak transcription	Pancreas	Pancrea
15	chr8:68028600-68074400	Weak transcription	NHEK	skin
16	chr8:68029400-68074000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:68033400-68054600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:68033800-68074400	Weak transcription	Colonic Mucosa	Colon
19	chr8:68036000-68074400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:68036200-68071400	Weak transcription	Thymus	Thymus
21	chr8:68037000-68051000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr8:68041200-68077800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:68042200-68049400	Strong transcription	Fetal Thymus	thymus
24	chr8:68042400-68050600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:68042800-68051000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:68043000-68049400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr8:68043200-68051000	Strong transcription	K562	blood
28	chr8:68043400-68051000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:68043600-68051200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:68044000-68049600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:68044000-68050600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr8:68044200-68049400	Strong transcription	Fetal Muscle Leg	muscle
33	chr8:68044200-68049600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:68044200-68050600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:68044200-68051000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:68044200-68051000	Strong transcription	Adipose Nuclei	Adipose
37	chr8:68044400-68049400	Strong transcription	Fetal Intestine Large	intestine
38	chr8:68044400-68049400	Strong transcription	Left Ventricle	heart
39	chr8:68044400-68050800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr8:68045000-68067200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:68045000-68073200	Weak transcription	HepG2	liver
42	chr8:68045200-68051200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:68045800-68074200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr8:68046000-68060800	Weak transcription	NHLF	lung
45	chr8:68046000-68074400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:68046200-68049000	Strong transcription	Hela-S3	cervix
47	chr8:68046400-68049600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:68046400-68051000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:68046400-68056200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr8:68046400-68073200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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