Variant report

Variant	rs12543766
Chromosome Location	chr8:10108662-10108663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11777246	0.85[CHB][hapmap]
rs11781781	0.89[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.82[MKK][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12544785	0.83[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];0.83[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12544801	0.86[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs12549696	0.86[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs13248589	0.83[ASN][1000 genomes]
rs13250485	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13252180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13258235	0.81[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs13266832	0.83[ASN][1000 genomes]
rs13267960	0.84[ASN][1000 genomes]
rs13274653	0.83[ASN][1000 genomes]
rs13279294	0.90[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17151478	0.88[CEU][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2975696	0.90[TSI][hapmap]
rs35222693	0.87[ASN][1000 genomes]
rs35474349	0.91[ASN][1000 genomes]
rs4295669	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4336616	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4404920	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4504638	0.81[CHB][hapmap];0.90[CHD][hapmap]
rs4563888	0.85[JPT][hapmap]
rs4840468	0.92[ASN][1000 genomes]
rs4841293	0.87[ASN][1000 genomes]
rs4841297	0.88[CEU][hapmap];0.84[GIH][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs4841301	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58868895	0.92[ASN][1000 genomes]
rs6601422	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6985068	0.94[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.92[MEX][hapmap];0.95[MKK][hapmap];0.92[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6988744	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6990888	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7008799	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1028650	chr8:10101815-10178537	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10095400-10111600	Weak transcription	Primary T cells from cord blood	blood
2	chr8:10096000-10128000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:10103200-10109600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:10103200-10117800	Weak transcription	Pancreas	Pancrea
5	chr8:10103400-10110000	Weak transcription	Lung	lung
6	chr8:10103400-10110000	Weak transcription	Psoas Muscle	Psoas
7	chr8:10103400-10111400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:10103400-10111600	Weak transcription	Left Ventricle	heart
9	chr8:10103400-10112000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:10103400-10115800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:10103600-10110600	Weak transcription	Ovary	ovary
12	chr8:10103600-10111400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:10103600-10111600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr8:10103600-10115600	Weak transcription	Fetal Intestine Small	intestine
15	chr8:10103600-10118000	Weak transcription	Gastric	stomach
16	chr8:10103600-10122600	Weak transcription	Spleen	Spleen
17	chr8:10104000-10124600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:10104800-10111400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:10105600-10122800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:10106200-10112600	Weak transcription	Fetal Brain Female	brain
21	chr8:10107200-10109200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr8:10108200-10112000	Weak transcription	Brain Substantia Nigra	brain
23	chr8:10108400-10111200	Weak transcription	Brain Germinal Matrix	brain
24	chr8:10108400-10113000	Weak transcription	Fetal Brain Male	brain

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