Variant report

Variant	rs55745066
Chromosome Location	chr8:68083182-68083183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:68083143-68083187	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
CSPP1	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10504399	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11557200	0.95[EUR][1000 genomes]
rs11986053	0.95[EUR][1000 genomes]
rs11986982	0.95[EUR][1000 genomes]
rs11988465	0.95[EUR][1000 genomes]
rs11992605	0.95[EUR][1000 genomes]
rs11997404	0.95[EUR][1000 genomes]
rs12114202	0.95[EUR][1000 genomes]
rs16919053	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933138	0.95[EUR][1000 genomes]
rs16933139	0.95[EUR][1000 genomes]
rs16933147	0.95[EUR][1000 genomes]
rs16933160	0.90[EUR][1000 genomes]
rs16933162	0.95[EUR][1000 genomes]
rs16933170	0.95[EUR][1000 genomes]
rs16933173	0.95[EUR][1000 genomes]
rs16933182	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933190	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933204	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16933214	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2168542	0.95[EUR][1000 genomes]
rs2290585	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305672	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305673	0.95[EUR][1000 genomes]
rs3780131	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55662680	0.95[EUR][1000 genomes]
rs55737416	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55865037	0.95[EUR][1000 genomes]
rs55983978	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55986624	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56101466	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56858183	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57101332	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57867847	0.95[EUR][1000 genomes]
rs58448590	0.95[EUR][1000 genomes]
rs58715460	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59335949	0.95[EUR][1000 genomes]
rs59634730	0.95[EUR][1000 genomes]
rs59870074	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60324950	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60894518	0.95[EUR][1000 genomes]
rs61193782	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984568	0.95[EUR][1000 genomes]
rs6984650	0.80[EUR][1000 genomes]
rs6987597	0.95[EUR][1000 genomes]
rs6987624	0.95[EUR][1000 genomes]
rs6990298	0.95[EUR][1000 genomes]
rs6991974	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691182	0.95[EUR][1000 genomes]
rs73691185	0.95[EUR][1000 genomes]
rs73691186	0.95[EUR][1000 genomes]
rs73691192	0.95[EUR][1000 genomes]
rs73691193	0.95[EUR][1000 genomes]
rs73693124	0.95[EUR][1000 genomes]
rs73693135	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693152	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693153	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7461383	0.95[EUR][1000 genomes]
rs7812425	0.95[EUR][1000 genomes]
rs7812510	0.92[EUR][1000 genomes]
rs7816827	0.95[EUR][1000 genomes]
rs7819894	0.92[EUR][1000 genomes]
rs7819895	0.92[EUR][1000 genomes]
rs7822754	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824775	0.95[EUR][1000 genomes]
rs7833373	0.95[EUR][1000 genomes]
rs7834516	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841884	0.95[EUR][1000 genomes]
rs7846677	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67993400-68085000	Weak transcription	Aorta	Aorta
2	chr8:68022800-68090800	Weak transcription	Small Intestine	intestine
3	chr8:68024200-68092400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:68060800-68087000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:68070600-68091200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:68074800-68106200	Weak transcription	Colonic Mucosa	Colon
7	chr8:68075000-68084400	Weak transcription	Osteobl	bone
8	chr8:68075000-68107200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:68075200-68087600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:68075200-68136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:68075400-68102200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr8:68075400-68104600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:68075600-68087600	Weak transcription	Fetal Heart	heart
14	chr8:68075600-68087600	Weak transcription	Gastric	stomach
15	chr8:68075600-68102800	Weak transcription	Psoas Muscle	Psoas
16	chr8:68075800-68087600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:68075800-68087600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:68075800-68110800	Weak transcription	HepG2	liver
19	chr8:68075800-68112200	Weak transcription	Stomach Mucosa	stomach
20	chr8:68076000-68103000	Weak transcription	NHDF-Ad	bronchial
21	chr8:68076000-68107000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:68076200-68087200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:68076200-68087200	Weak transcription	NHEK	skin
24	chr8:68076400-68087200	Weak transcription	Lung	lung
25	chr8:68076400-68087600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:68076400-68087600	Weak transcription	Right Ventricle	heart
27	chr8:68076400-68087600	Weak transcription	A549	lung
28	chr8:68076400-68087800	Weak transcription	Esophagus	oesophagus
29	chr8:68076400-68092400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:68076600-68087400	Weak transcription	HUVEC	blood vessel
31	chr8:68076800-68084800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:68076800-68087200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:68076800-68087400	Weak transcription	Spleen	Spleen
34	chr8:68076800-68087600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:68076800-68109000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:68077000-68087400	Weak transcription	HMEC	breast
37	chr8:68077000-68087600	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:68077200-68108000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr8:68078000-68085200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:68078000-68087400	Weak transcription	HSMMtube	muscle
41	chr8:68078000-68087600	Weak transcription	Pancreas	Pancrea
42	chr8:68078000-68087800	Weak transcription	Fetal Kidney	kidney
43	chr8:68078200-68085000	Weak transcription	Adipose Nuclei	Adipose
44	chr8:68078200-68085400	Weak transcription	NH-A	brain
45	chr8:68078200-68087200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:68078200-68087200	Weak transcription	NHLF	lung
47	chr8:68078200-68087600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:68078200-68087600	Weak transcription	GM12878-XiMat	blood
49	chr8:68078400-68084800	Weak transcription	Primary T cells from cord blood	blood
50	chr8:68078400-68085000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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