Variant report

Variant	rs1993593
Chromosome Location	chr8:110289581-110289582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110284180..110285865-chr8:110286825..110289616,2	K562	blood:
2	chr8:110284682..110286826-chr8:110289156..110291459,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs16879035	0.82[GIH][hapmap]
rs16879261	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16879277	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879288	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879296	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16879302	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16879319	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4129683	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs4489305	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58645331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59395166	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59606309	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59943608	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60785810	1.00[ASN][1000 genomes]
rs61245151	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61479312	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66514810	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66540106	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66582255	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66595116	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66597282	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66850941	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66894192	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66993652	1.00[ASN][1000 genomes]
rs67013559	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67022633	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67131445	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67145203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67220317	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67285523	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67650612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67741834	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67743002	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs67793872	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67919153	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67974558	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68134891	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6990184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6994530	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72680756	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72682635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72682688	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73303253	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73303256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73311376	1.00[ASN][1000 genomes]
rs73311383	0.94[ASN][1000 genomes]
rs73311385	1.00[ASN][1000 genomes]
rs73311386	1.00[ASN][1000 genomes]
rs73311387	1.00[ASN][1000 genomes]
rs73311394	1.00[ASN][1000 genomes]
rs73311400	1.00[ASN][1000 genomes]
rs73313204	1.00[ASN][1000 genomes]
rs7817013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823896	1.00[ASN][1000 genomes]
rs7829028	1.00[CHD][hapmap]

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	nsv1023204	chr8:110169573-110303085	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1031663	chr8:110177432-110303085	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv891274	chr8:110224047-110308776	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891275	chr8:110224047-110319234	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv891276	chr8:110232329-110308776	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv891277	chr8:110251998-110300579	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv891278	chr8:110251998-110308776	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv515589	chr8:110268104-110300579	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110211200-110311600	Weak transcription	Right Ventricle	heart
2	chr8:110236200-110308800	Weak transcription	Thymus	Thymus
3	chr8:110236200-110309200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:110236600-110344200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:110238000-110311600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:110241800-110295600	Weak transcription	Psoas Muscle	Psoas
7	chr8:110242200-110289800	Weak transcription	Colonic Mucosa	Colon
8	chr8:110242400-110305000	Weak transcription	NHLF	lung
9	chr8:110242600-110291200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:110243200-110291000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:110247000-110311400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:110249200-110291600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:110252400-110304800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:110252800-110299600	Weak transcription	Fetal Kidney	kidney
15	chr8:110255600-110291200	Weak transcription	Fetal Thymus	thymus
16	chr8:110255600-110305400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:110258400-110311200	Weak transcription	Lung	lung
18	chr8:110260000-110294000	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:110265000-110299600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:110273400-110295400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr8:110274800-110301000	Weak transcription	Aorta	Aorta
22	chr8:110275000-110292000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:110275000-110295400	Weak transcription	NHEK	skin
24	chr8:110275000-110304400	Weak transcription	Osteobl	bone
25	chr8:110275200-110291200	Weak transcription	Fetal Stomach	stomach
26	chr8:110275600-110294000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:110275600-110299600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:110276600-110305000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:110278200-110311200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:110281000-110293600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:110281800-110293000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:110282600-110293800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:110283800-110290600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:110283800-110291400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr8:110283800-110293200	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:110283800-110294400	Weak transcription	Spleen	Spleen
37	chr8:110284000-110290800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:110284000-110291400	Weak transcription	HMEC	breast
39	chr8:110284000-110295600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr8:110284000-110304200	Weak transcription	NHDF-Ad	bronchial
41	chr8:110284000-110304400	Weak transcription	NH-A	brain
42	chr8:110284000-110305400	Weak transcription	Hela-S3	cervix
43	chr8:110284000-110306800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:110284200-110289800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr8:110284200-110290800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:110284200-110291000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:110284400-110291400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr8:110284400-110292800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr8:110284400-110304400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr8:110284400-110344400	Weak transcription	Fetal Lung	lung

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