Variant report

Variant	rs12234999
Chromosome Location	chr8:9603577-9603578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10086535	0.86[EUR][1000 genomes]
rs10090277	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10090998	0.86[EUR][1000 genomes]
rs10090999	0.86[EUR][1000 genomes]
rs10093972	0.87[CEU][hapmap];0.94[GIH][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs10105767	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs10105968	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs11249940	0.91[EUR][1000 genomes]
rs11249944	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11785739	0.85[EUR][1000 genomes]
rs11984920	0.97[GIH][hapmap];0.86[EUR][1000 genomes]
rs11988208	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11991831	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11995167	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12056794	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs12234900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12235001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28495967	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28499425	0.88[EUR][1000 genomes]
rs28562614	0.86[EUR][1000 genomes]
rs28675389	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3209608	0.93[EUR][1000 genomes]
rs33944167	0.93[EUR][1000 genomes]
rs34614689	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35052906	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35420737	0.96[EUR][1000 genomes]
rs35721526	0.88[EUR][1000 genomes]
rs36036709	0.88[EUR][1000 genomes]
rs4319098	0.87[CEU][hapmap];0.97[GIH][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs4348499	0.84[EUR][1000 genomes]
rs4380943	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs4383973	0.87[CEU][hapmap];0.96[GIH][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs4474027	0.87[CEU][hapmap];0.97[GIH][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs4529464	0.82[EUR][1000 genomes]
rs4612344	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs4629869	0.87[CEU][hapmap];0.97[GIH][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs4841215	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs5002814	0.86[EUR][1000 genomes]
rs5002815	0.87[CEU][hapmap];0.87[GIH][hapmap];0.86[EUR][1000 genomes]
rs5018578	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs55924085	0.86[EUR][1000 genomes]
rs57000316	0.86[EUR][1000 genomes]
rs57024674	0.86[EUR][1000 genomes]
rs57331392	0.86[EUR][1000 genomes]
rs57482128	0.91[EUR][1000 genomes]
rs57580633	0.88[EUR][1000 genomes]
rs57987233	0.91[EUR][1000 genomes]
rs58458097	0.90[EUR][1000 genomes]
rs58596872	0.96[EUR][1000 genomes]
rs59201801	0.88[EUR][1000 genomes]
rs59268701	0.90[EUR][1000 genomes]
rs59519630	0.86[EUR][1000 genomes]
rs59940446	0.86[EUR][1000 genomes]
rs60051555	0.90[EUR][1000 genomes]
rs60078276	0.88[EUR][1000 genomes]
rs60222666	0.96[EUR][1000 genomes]
rs60801852	0.98[EUR][1000 genomes]
rs60857446	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60942347	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61594550	0.90[EUR][1000 genomes]
rs61682841	0.88[EUR][1000 genomes]
rs6422356	1.00[CEU][hapmap];0.93[GIH][hapmap];0.81[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6601358	0.93[EUR][1000 genomes]
rs6601362	0.85[EUR][1000 genomes]
rs6981763	0.86[EUR][1000 genomes]
rs6984737	0.87[CEU][hapmap];0.87[GIH][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs6985140	0.84[ASW][hapmap];0.87[CEU][hapmap];0.88[GIH][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs6986755	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6987259	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987746	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6990116	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs6992432	0.88[GIH][hapmap]
rs6994452	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6995292	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6999382	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7000182	0.84[EUR][1000 genomes]
rs7001395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7002917	0.87[CEU][hapmap];0.90[GIH][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs7009596	0.91[EUR][1000 genomes]
rs7010154	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]
rs7014218	0.93[EUR][1000 genomes]
rs7016632	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs7018268	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs7018348	0.84[EUR][1000 genomes]
rs73523222	0.84[EUR][1000 genomes]
rs73523224	0.88[EUR][1000 genomes]
rs73523249	0.90[EUR][1000 genomes]
rs73535828	0.84[EUR][1000 genomes]
rs73537955	0.86[EUR][1000 genomes]
rs73537959	0.84[EUR][1000 genomes]
rs73537971	0.86[EUR][1000 genomes]
rs73539904	0.88[EUR][1000 genomes]
rs73539907	0.88[EUR][1000 genomes]
rs73662516	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7813518	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7815297	0.93[EUR][1000 genomes]
rs7815378	0.84[EUR][1000 genomes]
rs7815506	0.88[EUR][1000 genomes]
rs7815644	0.86[EUR][1000 genomes]
rs7818016	0.84[EUR][1000 genomes]
rs7821007	0.88[EUR][1000 genomes]
rs7827395	1.00[EUR][1000 genomes]
rs7837344	0.88[EUR][1000 genomes]
rs7837923	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7840161	0.90[EUR][1000 genomes]
rs7846023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9644705	0.89[EUR][1000 genomes]
rs9644706	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:126 , 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	chr8:9542200-9606800	Weak transcription	Small Intestine	intestine
5	chr8:9543400-9606400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:9550000-9627600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:9551200-9610600	Weak transcription	Fetal Brain Male	brain
8	chr8:9557400-9632200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:9558400-9605000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:9560600-9609200	Weak transcription	K562	blood
11	chr8:9561000-9616200	Weak transcription	Brain Substantia Nigra	brain
12	chr8:9562200-9608000	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:9564000-9608200	Weak transcription	Colonic Mucosa	Colon
14	chr8:9565000-9606400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:9565000-9608000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:9565000-9616200	Weak transcription	Pancreas	Pancrea
17	chr8:9566000-9639400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:9567800-9605400	Weak transcription	NHLF	lung
19	chr8:9567800-9611200	Weak transcription	NHEK	skin
20	chr8:9569000-9606200	Weak transcription	HSMMtube	muscle
21	chr8:9570000-9638600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:9571600-9606200	Weak transcription	Aorta	Aorta
23	chr8:9576000-9611400	Weak transcription	Fetal Heart	heart
24	chr8:9578600-9605600	Weak transcription	HMEC	breast
25	chr8:9578600-9606200	Weak transcription	Left Ventricle	heart
26	chr8:9579400-9607200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:9579600-9606200	Weak transcription	Lung	lung
28	chr8:9585200-9627600	Weak transcription	Hela-S3	cervix
29	chr8:9586800-9609200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:9588600-9626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:9592600-9606200	Weak transcription	Gastric	stomach
32	chr8:9593000-9604800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:9593000-9605000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:9593000-9605200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:9593000-9605200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:9593000-9605400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:9593000-9605400	Weak transcription	A549	lung
38	chr8:9593000-9606200	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:9593000-9607400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:9593000-9611200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:9593200-9605400	Weak transcription	HepG2	liver
42	chr8:9593200-9606400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:9593200-9607200	Weak transcription	Right Ventricle	heart
44	chr8:9593200-9610200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr8:9593400-9606200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:9593600-9605400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:9593600-9605400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:9593600-9605400	Weak transcription	NHDF-Ad	bronchial
49	chr8:9593600-9606200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:9593600-9606600	Weak transcription	Brain Inferior Temporal Lobe	brain

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