Variant report

Variant	rs16933178
Chromosome Location	chr8:68071517-68071518
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	chr8:68068690..68070292-chr8:68071142..68074042,2	K562	blood:

Variant related genes	Relation type
ENSG00000104218	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

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

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];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11985037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986053	1.00[CHB][hapmap]
rs11986982	1.00[CEU][hapmap]
rs11988175	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11989855	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11990088	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
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];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995853	0.81[EUR][1000 genomes];1.00[ASN][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];0.91[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];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919053	0.82[MEX][hapmap]
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]
rs16933148	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]
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]
rs16933182	1.00[CEU][hapmap]
rs16933190	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs17335495	1.00[ASN][1000 genomes]
rs2290585	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs2305672	0.82[MEX][hapmap]
rs2305673	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs28377622	1.00[EUR][1000 genomes]
rs55783506	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55908039	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55993413	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56070137	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56115408	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56902031	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57530222	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57931195	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58160220	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58307420	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59061775	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60167783	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60624770	0.96[EUR][1000 genomes]
rs60964596	0.96[EUR][1000 genomes]
rs61476700	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61552467	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61758876	0.82[AFR][1000 genomes]
rs6984568	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];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009678	1.00[CEU][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691159	0.91[EUR][1000 genomes]
rs73691161	1.00[EUR][1000 genomes]
rs73691183	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691187	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691188	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691189	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691190	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691191	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691194	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693106	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693110	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693114	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693117	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693129	0.92[EUR][1000 genomes]
rs73693136	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693148	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693149	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693150	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693151	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7461383	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs7816746	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][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];1.00[ASN][1000 genomes]
rs7834516	1.00[CEU][hapmap]
rs7841884	1.00[CEU][hapmap];0.82[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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	chr8:68021000-68074400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:68022800-68090800	Weak transcription	Small Intestine	intestine
8	chr8:68024200-68092400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:68026000-68074400	Weak transcription	Gastric	stomach
10	chr8:68028400-68074400	Weak transcription	Pancreas	Pancrea
11	chr8:68028600-68074400	Weak transcription	NHEK	skin
12	chr8:68029400-68074000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:68033800-68074400	Weak transcription	Colonic Mucosa	Colon
14	chr8:68036000-68074400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:68041200-68077800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:68045000-68073200	Weak transcription	HepG2	liver
17	chr8:68045800-68074200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr8:68046000-68074400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:68046400-68073200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:68046400-68074200	Weak transcription	Right Ventricle	heart
21	chr8:68046400-68074400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:68046600-68073800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:68046600-68074400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:68046600-68074400	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:68046600-68074400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:68046600-68074600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:68046800-68074000	Weak transcription	A549	lung
28	chr8:68046800-68074200	Weak transcription	Brain Angular Gyrus	brain
29	chr8:68046800-68074200	Weak transcription	HMEC	breast
30	chr8:68046800-68074400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:68046800-68076200	Weak transcription	HUVEC	blood vessel
32	chr8:68047200-68074000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:68047200-68074200	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:68047200-68074400	Weak transcription	Fetal Heart	heart
35	chr8:68047200-68074400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:68047200-68075400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:68047400-68073400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr8:68047400-68074400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:68047400-68074600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr8:68049800-68074000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:68050800-68073200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr8:68050800-68073400	Weak transcription	Fetal Brain Male	brain
43	chr8:68050800-68074000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:68050800-68074400	Weak transcription	Brain Substantia Nigra	brain
45	chr8:68050800-68074400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:68051000-68074200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:68051200-68074000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:68056800-68071800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:68057000-68073200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr8:68057000-68074400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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