Variant report

Variant	rs16933160
Chromosome Location	chr8:68019863-68019864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:68019313..68021388-chr8:68023240..68024925,2	K562	blood:
2	chr8:68019207..68022568-chr8:68026729..68029590,3	K562	blood:
3	chr8:67972943..67975596-chr8:68018499..68020394,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104218	Chromatin interaction
ENSG00000121022	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10504399	0.80[EUR][1000 genomes]
rs11557200	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11986053	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11986982	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11988465	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11992605	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11997404	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12114202	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16919053	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16933106	1.00[JPT][hapmap]
rs16933132	1.00[JPT][hapmap]
rs16933138	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16933139	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16933147	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16933162	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16933170	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16933173	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16933182	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16933190	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16933204	1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[EUR][1000 genomes]
rs16933214	0.80[EUR][1000 genomes]
rs1808140	1.00[JPT][hapmap]
rs2168542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2290585	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2290586	1.00[JPT][hapmap]
rs2305672	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2305673	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3779995	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs3780131	0.85[EUR][1000 genomes]
rs4364616	1.00[JPT][hapmap]
rs4592015	1.00[JPT][hapmap]
rs55662680	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55737416	0.85[EUR][1000 genomes]
rs55745066	0.90[EUR][1000 genomes]
rs55865037	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55983978	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55986624	0.80[EUR][1000 genomes]
rs56101466	0.85[EUR][1000 genomes]
rs56858183	0.80[EUR][1000 genomes]
rs57101332	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57867847	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58448590	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58715460	0.80[EUR][1000 genomes]
rs59335949	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59634730	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60324950	0.85[EUR][1000 genomes]
rs60894518	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61193782	0.85[EUR][1000 genomes]
rs6984568	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6984597	1.00[JPT][hapmap]
rs6984650	1.00[CHB][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs6987597	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6987624	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6988547	1.00[JPT][hapmap]
rs6990298	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6991974	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6998170	1.00[JPT][hapmap]
rs6998290	1.00[JPT][hapmap]
rs7000650	1.00[JPT][hapmap]
rs7003018	1.00[JPT][hapmap]
rs7005014	1.00[JPT][hapmap]
rs7008877	1.00[JPT][hapmap]
rs7009678	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs73691182	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73691185	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73691186	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73691192	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73691193	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73693124	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73693135	0.80[EUR][1000 genomes]
rs73693152	0.85[EUR][1000 genomes]
rs73693153	0.85[EUR][1000 genomes]
rs7461383	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7812425	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7812510	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7816827	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7819894	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7819895	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7822754	0.80[EUR][1000 genomes]
rs7824775	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7828748	1.00[JPT][hapmap]
rs7833373	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7833956	1.00[JPT][hapmap]
rs7834516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7841884	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7846677	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67977800-68021800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:67977800-68044000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:67978200-68074400	Weak transcription	Esophagus	oesophagus
4	chr8:67978400-68044800	Weak transcription	Brain Angular Gyrus	brain
5	chr8:67978400-68045600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:67978600-68031200	Weak transcription	Fetal Heart	heart
7	chr8:67978600-68074200	Weak transcription	Psoas Muscle	Psoas
8	chr8:67978800-68044200	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:67986400-68045400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:67988200-68038800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:67988200-68074800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:67988400-68035000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:67990400-68074400	Weak transcription	Spleen	Spleen
14	chr8:67991000-68021400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:67991200-68035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:67991800-68036800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:67993200-68044200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:67993400-68020800	Weak transcription	Lung	lung
19	chr8:67993400-68020800	Weak transcription	HSMMtube	muscle
20	chr8:67993400-68027600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:67993400-68044000	Weak transcription	Ovary	ovary
22	chr8:67993400-68085000	Weak transcription	Aorta	Aorta
23	chr8:67994200-68044200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:67997000-68036800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:67999800-68031000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:68000400-68022600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:68000400-68031600	Weak transcription	Fetal Brain Female	brain
28	chr8:68000400-68035000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:68000400-68037600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr8:68003800-68038600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:68004600-68021000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:68004800-68024400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:68005400-68038800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:68005800-68020400	Weak transcription	HSMM	muscle
35	chr8:68005800-68031200	Weak transcription	Hela-S3	cervix
36	chr8:68005800-68044400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:68006200-68029800	Weak transcription	HMEC	breast
38	chr8:68006400-68039200	Weak transcription	GM12878-XiMat	blood
39	chr8:68007400-68028600	Weak transcription	NHDF-Ad	bronchial
40	chr8:68008000-68040000	Weak transcription	NHLF	lung
41	chr8:68008000-68045600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr8:68008000-68062400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:68008200-68045400	Weak transcription	Fetal Brain Male	brain
44	chr8:68008400-68020800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:68008400-68020800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:68008400-68020800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:68008400-68021000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr8:68008400-68024600	Weak transcription	Placenta	Placenta
49	chr8:68008400-68029800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr8:68008400-68030400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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