Variant report

Variant	rs7816746
Chromosome Location	chr8:68098425-68098426
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:68093632..68095325-chr8:68098007..68100821,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1138476	0.87[EUR][1000 genomes]
rs11985037	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11988175	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11989855	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11990088	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11992626	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11995853	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997189	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1466283	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933148	0.87[EUR][1000 genomes]
rs16933178	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17335495	1.00[ASN][1000 genomes]
rs28377622	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs55783506	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55908039	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55993413	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56070137	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56115408	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56902031	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57530222	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57931195	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58160220	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58307420	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59061775	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60167783	0.87[EUR][1000 genomes]
rs60624770	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs60964596	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61476700	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61552467	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7004549	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7009678	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73691161	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73691183	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73691187	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73691188	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73691189	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73691190	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73691191	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73691194	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73693106	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73693110	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73693114	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73693117	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73693129	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73693135	0.84[AMR][1000 genomes]
rs73693136	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693148	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693149	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693150	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693151	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831052	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv971660	chr8:68093673-68102114	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 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	chr8:68074800-68106200	Weak transcription	Colonic Mucosa	Colon
2	chr8:68075000-68107200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:68075200-68136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:68075400-68102200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:68075400-68104600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:68075600-68102800	Weak transcription	Psoas Muscle	Psoas
7	chr8:68075800-68110800	Weak transcription	HepG2	liver
8	chr8:68075800-68112200	Weak transcription	Stomach Mucosa	stomach
9	chr8:68076000-68103000	Weak transcription	NHDF-Ad	bronchial
10	chr8:68076000-68107000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:68076800-68109000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:68077200-68108000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:68078800-68110400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:68088000-68105600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:68088000-68107000	Weak transcription	HUVEC	blood vessel
16	chr8:68088200-68102800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:68088200-68103000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:68088200-68106000	Weak transcription	Fetal Brain Male	brain
19	chr8:68088200-68107400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:68088200-68107400	Weak transcription	Spleen	Spleen
21	chr8:68088200-68110800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:68088200-68111000	Weak transcription	Fetal Kidney	kidney
23	chr8:68088200-68111600	Weak transcription	Gastric	stomach
24	chr8:68088400-68103000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:68088400-68107200	Weak transcription	Right Ventricle	heart
26	chr8:68088400-68110800	Weak transcription	Pancreas	Pancrea
27	chr8:68088400-68110800	Weak transcription	Thymus	Thymus
28	chr8:68088600-68104000	Weak transcription	NHEK	skin
29	chr8:68088600-68107400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:68088600-68107600	Weak transcription	Esophagus	oesophagus
31	chr8:68089000-68104800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr8:68089000-68105200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr8:68089000-68105200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:68089000-68105200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr8:68089000-68105400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:68089000-68107400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:68089200-68103200	Weak transcription	HMEC	breast
38	chr8:68089600-68102200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr8:68089600-68103200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:68089600-68105600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:68089600-68107200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:68089600-68111800	Weak transcription	Brain Angular Gyrus	brain
43	chr8:68090000-68102400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:68091000-68103000	Weak transcription	NHLF	lung
45	chr8:68091200-68111600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:68091200-68114600	Weak transcription	Small Intestine	intestine
47	chr8:68091400-68103000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:68091400-68107400	Weak transcription	Aorta	Aorta
49	chr8:68091400-68108200	Weak transcription	Fetal Heart	heart
50	chr8:68091400-68112000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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