Variant report

Variant	rs12545969
Chromosome Location	chr8:92109444-92109445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:92107839..92110534-chr8:92110820..92113788,2	MCF-7	breast:
2	chr8:92097979..92100337-chr8:92107089..92109633,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10090581	0.88[EUR][1000 genomes]
rs10095630	0.88[EUR][1000 genomes]
rs10100069	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10110267	0.87[EUR][1000 genomes]
rs10111323	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10216413	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10942	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956790	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956791	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956792	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956793	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956794	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10956795	0.82[ASN][1000 genomes]
rs1138489	0.93[EUR][1000 genomes]
rs11557571	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11777826	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11778758	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11783034	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11785003	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11786324	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1180	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12334996	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12540975	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12542178	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12542580	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12679861	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28372564	0.82[ASN][1000 genomes]
rs28429767	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28629349	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28750250	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34520902	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34548877	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35066004	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35606777	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3808378	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3885968	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3885969	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4128119	0.82[ASN][1000 genomes]
rs4129720	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4373488	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4493873	0.88[EUR][1000 genomes]
rs4501548	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4501550	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4524748	0.84[ASN][1000 genomes]
rs4568579	0.88[EUR][1000 genomes]
rs4577919	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4620242	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5029071	0.81[ASN][1000 genomes]
rs55762572	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55775840	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56004977	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56084507	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56278134	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56306245	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57771593	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58278856	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60166362	0.82[ASN][1000 genomes]
rs61279214	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62526680	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62526682	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62526683	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62526685	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62526686	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62531560	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6471265	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6993713	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7005674	0.82[ASN][1000 genomes]
rs7014578	0.88[EUR][1000 genomes]
rs7815938	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7816107	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7819178	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7820904	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7832592	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7841266	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8081	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9643319	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9918929	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv611721	chr8:92107070-92183658	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92083000-92147800	Weak transcription	Spleen	Spleen
2	chr8:92083200-92113200	Weak transcription	Esophagus	oesophagus
3	chr8:92083400-92124400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:92083600-92109800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:92083600-92112000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:92083600-92113000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:92083600-92114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:92083600-92150800	Weak transcription	Pancreas	Pancrea
9	chr8:92084000-92124600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:92084200-92111400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:92085000-92125800	Weak transcription	Small Intestine	intestine
12	chr8:92088000-92111600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:92091200-92133800	Weak transcription	NHLF	lung
14	chr8:92091800-92137800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:92092600-92111000	Weak transcription	HepG2	liver
16	chr8:92092600-92116800	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:92092600-92147800	Weak transcription	Right Ventricle	heart
18	chr8:92092800-92111400	Weak transcription	Brain Substantia Nigra	brain
19	chr8:92092800-92124400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:92094200-92125200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr8:92095200-92124400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:92095200-92130800	Weak transcription	HSMMtube	muscle
23	chr8:92095800-92126600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:92096800-92135000	Weak transcription	Hela-S3	cervix
25	chr8:92097200-92127000	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:92097400-92126400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:92097400-92130800	Weak transcription	Osteobl	bone
28	chr8:92097400-92146200	Weak transcription	Psoas Muscle	Psoas
29	chr8:92098000-92111200	Weak transcription	Brain Germinal Matrix	brain
30	chr8:92098200-92124600	Weak transcription	HUVEC	blood vessel
31	chr8:92098600-92122800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:92099000-92110200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:92099200-92109800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr8:92099600-92110000	Strong transcription	Primary T cells from cord blood	blood
35	chr8:92100000-92110400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:92100000-92111200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr8:92100400-92112200	Weak transcription	Stomach Mucosa	stomach
38	chr8:92100400-92115000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:92100800-92130800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:92101000-92109600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:92101400-92118800	Weak transcription	Fetal Brain Female	brain
42	chr8:92101800-92110000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:92102600-92111400	Weak transcription	Fetal Lung	lung
44	chr8:92102600-92114800	Weak transcription	NH-A	brain
45	chr8:92102800-92110000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr8:92103000-92109600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:92104000-92111600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:92104400-92117800	Weak transcription	Brain Angular Gyrus	brain
49	chr8:92104400-92124400	Weak transcription	Gastric	stomach
50	chr8:92104600-92109600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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