Variant report

Variant	rs11992626
Chromosome Location	chr8:68032058-68032059
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:68030814..68032510-chr8:68038981..68041972,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1138476	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]
rs11985037	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986053	1.00[CHB][hapmap]
rs11986982	1.00[CEU][hapmap]
rs11988175	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11990088	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992605	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs11995853	0.81[EUR][1000 genomes]
rs11997189	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997404	1.00[CEU][hapmap]
rs1466283	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16919053	0.82[MEX][hapmap]
rs16933125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs16933138	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs16933139	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs16933148	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]
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[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];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	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3779995	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs55783506	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55908039	0.84[EUR][1000 genomes]
rs55993413	0.84[EUR][1000 genomes]
rs56070137	0.84[EUR][1000 genomes]
rs56115408	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56902031	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57530222	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57931195	0.84[EUR][1000 genomes]
rs58160220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58307420	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59061775	0.83[EUR][1000 genomes]
rs60167783	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60624770	0.96[EUR][1000 genomes]
rs60964596	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61476700	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61552467	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
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[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009678	1.00[CEU][hapmap];0.82[MEX][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691159	0.91[EUR][1000 genomes]
rs73691161	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691183	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691187	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691188	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691189	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691190	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691191	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691194	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693106	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693110	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693114	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693117	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693129	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73693136	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73693148	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73693149	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73693150	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73693151	0.84[EUR][1000 genomes]
rs7461383	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs7816746	0.92[AMR][1000 genomes];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: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	nsv890975	chr8:67983796-68032058	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67977800-68044000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:67978200-68074400	Weak transcription	Esophagus	oesophagus
3	chr8:67978400-68044800	Weak transcription	Brain Angular Gyrus	brain
4	chr8:67978400-68045600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:67978600-68074200	Weak transcription	Psoas Muscle	Psoas
6	chr8:67978800-68044200	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:67986400-68045400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:67988200-68038800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:67988200-68074800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:67988400-68035000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr8:67990400-68074400	Weak transcription	Spleen	Spleen
12	chr8:67991200-68035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:67991800-68036800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:67993200-68044200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:67993400-68044000	Weak transcription	Ovary	ovary
16	chr8:67993400-68085000	Weak transcription	Aorta	Aorta
17	chr8:67994200-68044200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:67997000-68036800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:68000400-68035000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:68000400-68037600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr8:68003800-68038600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:68005400-68038800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:68005800-68044400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:68006400-68039200	Weak transcription	GM12878-XiMat	blood
25	chr8:68008000-68040000	Weak transcription	NHLF	lung
26	chr8:68008000-68045600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:68008000-68062400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:68008200-68045400	Weak transcription	Fetal Brain Male	brain
29	chr8:68008400-68039200	Weak transcription	A549	lung
30	chr8:68008400-68039600	Weak transcription	NH-A	brain
31	chr8:68008400-68044000	Weak transcription	Brain Substantia Nigra	brain
32	chr8:68008600-68034400	Weak transcription	Osteobl	bone
33	chr8:68008600-68035000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr8:68008600-68035000	Weak transcription	Brain Anterior Caudate	brain
35	chr8:68008600-68044200	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:68008600-68044400	Weak transcription	Brain Germinal Matrix	brain
37	chr8:68008800-68034800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:68008800-68045800	Weak transcription	Right Ventricle	heart
39	chr8:68009200-68035200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:68014000-68035000	Weak transcription	Fetal Kidney	kidney
41	chr8:68014000-68035000	Weak transcription	HUVEC	blood vessel
42	chr8:68017600-68044200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr8:68020800-68032600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr8:68021000-68066800	Weak transcription	Lung	lung
45	chr8:68021000-68074400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:68021200-68044200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:68021400-68035000	Weak transcription	Left Ventricle	heart
48	chr8:68021600-68033000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:68021600-68046000	Weak transcription	HSMMtube	muscle
50	chr8:68021800-68048800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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