Variant report

Variant	rs12542912
Chromosome Location	chr8:9585196-9585197
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	chr8:9584130..9587096-chr8:9588656..9590966,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10081565	0.90[CHB][hapmap]
rs10094989	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10099122	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10102170	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10104032	0.85[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10106040	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs10111376	0.84[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10464998	0.83[AFR][1000 genomes]
rs11249934	0.95[CEU][hapmap]
rs11249937	0.92[CHB][hapmap]
rs11249942	0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs11776236	0.96[CHB][hapmap]
rs11778555	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11779335	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs11782886	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11783635	0.81[AFR][1000 genomes]
rs11785458	0.82[EUR][1000 genomes]
rs11785923	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785987	0.81[AFR][1000 genomes]
rs12114661	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12155819	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12541617	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs12542457	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12543959	0.92[CHB][hapmap]
rs12544371	0.91[CHB][hapmap]
rs12545250	0.92[CEU][hapmap]
rs12547642	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12677313	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs12677507	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs12679180	0.92[CHB][hapmap]
rs12679956	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682175	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs13249683	0.83[YRI][hapmap]
rs13250951	0.91[CHB][hapmap]
rs13260526	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs13263409	0.92[CHB][hapmap]
rs13264850	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13270518	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs13272424	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13276086	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1394	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs33994795	0.82[EUR][1000 genomes]
rs35316422	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35874762	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4075359	0.96[CEU][hapmap]
rs4128198	0.92[CEU][hapmap]
rs4129360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4305907	0.83[AFR][1000 genomes]
rs4419813	0.83[AFR][1000 genomes]
rs4422774	0.82[EUR][1000 genomes]
rs4612345	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4626603	0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs4626604	0.81[AFR][1000 genomes]
rs4840426	0.82[CEU][hapmap]
rs4840437	0.83[CEU][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4841196	0.86[YRI][hapmap]
rs4841203	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4841204	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841206	0.83[AFR][1000 genomes]
rs4841207	0.82[AMR][1000 genomes]
rs4841209	0.81[AFR][1000 genomes]
rs4841210	0.81[AFR][1000 genomes]
rs6601338	0.92[CEU][hapmap]
rs6601340	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs6601350	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67711814	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6982148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6990300	0.91[CHB][hapmap]
rs6990418	0.92[CEU][hapmap]
rs6992666	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6994574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6995495	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs7001832	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7003791	0.86[CHB][hapmap]
rs7004937	0.92[CEU][hapmap]
rs7006985	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7014663	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7016839	0.81[AFR][1000 genomes]
rs7461376	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs7461939	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7462070	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7462910	0.83[YRI][hapmap]
rs7840706	0.92[CHB][hapmap]
rs7846399	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9644704	0.95[CEU][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9644707	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9644708	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs9650639	0.91[CHB][hapmap]
rs9657509	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3448781	chr8:9584902-9585455	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	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	chr8:9513400-9605400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:9529600-9606400	Weak transcription	Esophagus	oesophagus
3	chr8:9535000-9608000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:9537600-9592400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:9541400-9592200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:9542200-9606800	Weak transcription	Small Intestine	intestine
7	chr8:9543000-9592200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:9543400-9606400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:9544000-9586200	Weak transcription	Thymus	Thymus
10	chr8:9544000-9592400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:9544000-9592400	Weak transcription	Psoas Muscle	Psoas
12	chr8:9545600-9592400	Weak transcription	Brain Angular Gyrus	brain
13	chr8:9550000-9627600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:9551000-9592400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:9551200-9610600	Weak transcription	Fetal Brain Male	brain
16	chr8:9555400-9586400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:9557400-9632200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:9558000-9592400	Weak transcription	Gastric	stomach
19	chr8:9558400-9597600	Weak transcription	Spleen	Spleen
20	chr8:9558400-9605000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr8:9559400-9592400	Weak transcription	Right Ventricle	heart
22	chr8:9560600-9609200	Weak transcription	K562	blood
23	chr8:9561000-9616200	Weak transcription	Brain Substantia Nigra	brain
24	chr8:9561400-9592000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:9562200-9608000	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:9562600-9592400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:9562800-9592400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:9564000-9608200	Weak transcription	Colonic Mucosa	Colon
29	chr8:9565000-9606400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr8:9565000-9608000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:9565000-9616200	Weak transcription	Pancreas	Pancrea
32	chr8:9565400-9592400	Weak transcription	HUVEC	blood vessel
33	chr8:9566000-9639400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:9567800-9592000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:9567800-9605400	Weak transcription	NHLF	lung
36	chr8:9567800-9611200	Weak transcription	NHEK	skin
37	chr8:9568000-9592400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:9569000-9588400	Weak transcription	NHDF-Ad	bronchial
39	chr8:9569000-9592200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:9569000-9606200	Weak transcription	HSMMtube	muscle
41	chr8:9569200-9588000	Weak transcription	NH-A	brain
42	chr8:9569200-9592400	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:9569400-9592200	Weak transcription	Brain Germinal Matrix	brain
44	chr8:9569800-9586600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr8:9570000-9586600	Weak transcription	HepG2	liver
46	chr8:9570000-9638600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:9571000-9587800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:9571600-9587600	Weak transcription	Fetal Thymus	thymus
49	chr8:9571600-9606200	Weak transcription	Aorta	Aorta
50	chr8:9571800-9587800	Weak transcription	HSMM	muscle

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