Variant report

Variant	rs59335949
Chromosome Location	chr8:68013234-68013235
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67977500..67979616-chr8:68012864..68015307,2	MCF-7	breast:
2	chr8:67973427..67978093-chr8:68011189..68018690,8	K562	blood:

Variant related genes	Relation type
ENSG00000104218	Chromatin interaction
ENSG00000121022	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10504399	0.85[EUR][1000 genomes]
rs11557200	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11986053	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986982	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988465	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990461	0.85[AMR][1000 genomes]
rs11992605	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997404	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12114202	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919053	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16933138	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933147	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933160	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16933162	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933170	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933173	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933182	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs16933190	0.95[EUR][1000 genomes]
rs16933204	0.85[EUR][1000 genomes]
rs16933214	0.85[EUR][1000 genomes]
rs2168542	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2290585	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2305672	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2305673	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28547325	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3779995	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3780131	0.90[EUR][1000 genomes]
rs55662680	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55737416	0.90[EUR][1000 genomes]
rs55745066	0.95[EUR][1000 genomes]
rs55865037	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55983978	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs55986624	0.85[EUR][1000 genomes]
rs56101466	0.90[EUR][1000 genomes]
rs56858183	0.85[EUR][1000 genomes]
rs57101332	0.90[EUR][1000 genomes]
rs57867847	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58448590	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58715460	0.85[EUR][1000 genomes]
rs59634730	0.97[AFR][1000 genomes];0.94[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	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60894518	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61085456	0.85[AMR][1000 genomes]
rs61193782	0.90[EUR][1000 genomes]
rs6472289	0.85[AMR][1000 genomes]
rs6982699	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6984447	0.85[AMR][1000 genomes]
rs6984568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984650	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6987597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990298	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991974	0.90[EUR][1000 genomes]
rs73691182	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691185	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73691186	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73691192	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691193	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693124	0.97[AFR][1000 genomes];0.94[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	0.90[EUR][1000 genomes]
rs73693631	0.85[AMR][1000 genomes]
rs73693632	0.85[AMR][1000 genomes]
rs7461383	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812425	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812510	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7815142	0.85[AMR][1000 genomes]
rs7815863	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7816827	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7819894	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7819895	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7820403	0.85[AMR][1000 genomes]
rs7822754	0.85[EUR][1000 genomes]
rs7824775	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833373	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7834516	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7841884	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842770	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7846677	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv611458	chr8:67986890-68016482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv611459	chr8:67995266-68015219	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67977800-68013800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:67977800-68021800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:67977800-68044000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:67978200-68074400	Weak transcription	Esophagus	oesophagus
5	chr8:67978400-68044800	Weak transcription	Brain Angular Gyrus	brain
6	chr8:67978400-68045600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:67978600-68031200	Weak transcription	Fetal Heart	heart
8	chr8:67978600-68074200	Weak transcription	Psoas Muscle	Psoas
9	chr8:67978800-68044200	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:67986400-68045400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:67988200-68014000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:67988200-68038800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:67988200-68074800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:67988400-68035000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr8:67990400-68074400	Weak transcription	Spleen	Spleen
16	chr8:67991000-68021400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:67991200-68035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:67991800-68036800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:67993200-68044200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:67993400-68020800	Weak transcription	Lung	lung
21	chr8:67993400-68020800	Weak transcription	HSMMtube	muscle
22	chr8:67993400-68027600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:67993400-68044000	Weak transcription	Ovary	ovary
24	chr8:67993400-68085000	Weak transcription	Aorta	Aorta
25	chr8:67994200-68044200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr8:67997000-68036800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:67999800-68031000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:68000400-68022600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:68000400-68031600	Weak transcription	Fetal Brain Female	brain
30	chr8:68000400-68035000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:68000400-68037600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr8:68003800-68038600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:68004600-68021000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:68004800-68024400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:68005400-68038800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:68005800-68020400	Weak transcription	HSMM	muscle
37	chr8:68005800-68031200	Weak transcription	Hela-S3	cervix
38	chr8:68005800-68044400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:68006200-68029800	Weak transcription	HMEC	breast
40	chr8:68006400-68039200	Weak transcription	GM12878-XiMat	blood
41	chr8:68007000-68017200	Weak transcription	Fetal Stomach	stomach
42	chr8:68007400-68028600	Weak transcription	NHDF-Ad	bronchial
43	chr8:68008000-68040000	Weak transcription	NHLF	lung
44	chr8:68008000-68045600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:68008000-68062400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:68008200-68014200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:68008200-68045400	Weak transcription	Fetal Brain Male	brain
48	chr8:68008400-68015000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:68008400-68015000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:68008400-68017400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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