Variant report

Variant	rs4424696
Chromosome Location	chr11:86046620-86046621
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10792846	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10792847	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898445	0.83[CHB][hapmap]
rs10898470	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11234620	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1376944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs167086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs167087	0.81[ASN][1000 genomes]
rs172364	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2444025	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513200	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2600951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2646727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2646728	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2646729	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2847471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291197	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs291201	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs291202	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291204	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs291205	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs291208	0.82[EUR][1000 genomes]
rs291209	0.83[EUR][1000 genomes]
rs291212	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs291213	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291218	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291223	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs291224	0.93[CEU][hapmap]
rs291231	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs291235	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs291236	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs291239	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[YRI][hapmap]
rs291244	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.82[ASN][1000 genomes]
rs291252	0.88[CEU][hapmap]
rs3016798	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35254887	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944565	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592283	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7103304	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7114282	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118102	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122551	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122914	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937189	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7938827	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][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	nsv508643	chr11:85988577-86047719	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4424696	EED	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86014200-86052000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:86014200-86055400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:86014200-86057400	Weak transcription	Aorta	Aorta
4	chr11:86014400-86066600	Weak transcription	HSMMtube	muscle
5	chr11:86014600-86048400	Weak transcription	Brain Germinal Matrix	brain
6	chr11:86014600-86048800	Weak transcription	Thymus	Thymus
7	chr11:86014600-86049000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:86014600-86049800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:86014600-86066400	Weak transcription	Fetal Kidney	kidney
10	chr11:86014800-86049000	Weak transcription	Hela-S3	cervix
11	chr11:86014800-86049200	Weak transcription	HUVEC	blood vessel
12	chr11:86014800-86058600	Weak transcription	NHLF	lung
13	chr11:86015000-86061000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:86015200-86051400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:86015400-86048400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:86015400-86049000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:86015400-86059600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:86015600-86048600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:86020400-86057200	Weak transcription	Small Intestine	intestine
20	chr11:86022000-86048800	Weak transcription	Gastric	stomach
21	chr11:86022000-86061000	Weak transcription	Esophagus	oesophagus
22	chr11:86023800-86061200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:86024200-86052200	Weak transcription	Colonic Mucosa	Colon
24	chr11:86024600-86057400	Weak transcription	Pancreas	Pancrea
25	chr11:86025000-86061600	Weak transcription	Psoas Muscle	Psoas
26	chr11:86025200-86057800	Weak transcription	HepG2	liver
27	chr11:86026000-86049000	Weak transcription	K562	blood
28	chr11:86028400-86048800	Weak transcription	Spleen	Spleen
29	chr11:86028400-86059200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:86029600-86050800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:86030600-86049000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:86030800-86049200	Weak transcription	Fetal Brain Female	brain
33	chr11:86031800-86048400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:86032600-86057600	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:86033400-86066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:86033600-86057000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:86035400-86047400	Weak transcription	Left Ventricle	heart
38	chr11:86035400-86066600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:86035600-86049200	Weak transcription	Lung	lung
40	chr11:86035600-86058800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:86036200-86048200	Weak transcription	Brain Anterior Caudate	brain
42	chr11:86036400-86048400	Weak transcription	Brain Substantia Nigra	brain
43	chr11:86036400-86049200	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:86036600-86048400	Weak transcription	Placenta	Placenta
45	chr11:86037800-86047400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr11:86038000-86047400	Weak transcription	Fetal Thymus	thymus
47	chr11:86038000-86059800	Weak transcription	NH-A	brain
48	chr11:86038600-86050800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr11:86040400-86049000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:86040800-86049200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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