Variant report

Variant	rs291221
Chromosome Location	chr11:86035816-86035817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr11:86035664-86035889	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86010873..86013514-chr11:86034864..86037459,2	K562	blood:

Variant related genes	Relation type
RN7SL225P	TF binding region
ENSG00000149196	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10751138	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10792852	0.88[ASN][1000 genomes]
rs10898450	0.84[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap]
rs10898454	0.80[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap]
rs10898455	0.80[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap]
rs11234583	0.93[CHB][hapmap]
rs11234595	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs11234619	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11234621	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11234623	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11234625	0.88[ASN][1000 genomes]
rs11825046	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1215001	0.91[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs12225782	0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs12577739	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs1376947	0.91[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs1391221	0.80[CEU][hapmap];0.93[CHB][hapmap];0.83[JPT][hapmap];0.94[YRI][hapmap]
rs19039	0.95[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2600950	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2646732	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2847470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs291196	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs291203	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291211	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs291215	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs291216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs291222	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs291225	0.81[AMR][1000 genomes]
rs291227	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs291228	0.91[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs291230	0.87[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs291231	0.91[CEU][hapmap]
rs291233	0.96[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs291234	0.95[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs291235	0.84[CEU][hapmap]
rs291236	0.83[CEU][hapmap]
rs291237	0.92[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs291238	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs291242	0.96[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs291247	0.83[ASN][1000 genomes]
rs291251	0.93[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs35254887	0.97[EUR][1000 genomes]
rs4944567	0.82[ASN][1000 genomes]
rs4944569	0.88[ASN][1000 genomes]
rs61904310	0.81[EUR][1000 genomes]
rs6592286	0.85[ASN][1000 genomes]
rs6592287	0.87[ASN][1000 genomes]
rs7106569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7117195	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7124620	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7480354	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7937189	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7937597	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7948056	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7949770	0.85[AMR][1000 genomes];0.84[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	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
rs291221	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	chr11:86014600-86045600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:86014600-86045800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:86014600-86045800	Weak transcription	Right Ventricle	heart
8	chr11:86014600-86048400	Weak transcription	Brain Germinal Matrix	brain
9	chr11:86014600-86048800	Weak transcription	Thymus	Thymus
10	chr11:86014600-86049000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:86014600-86049800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:86014600-86066400	Weak transcription	Fetal Kidney	kidney
13	chr11:86014800-86036000	Weak transcription	Brain Substantia Nigra	brain
14	chr11:86014800-86040600	Weak transcription	Brain Angular Gyrus	brain
15	chr11:86014800-86045800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:86014800-86049000	Weak transcription	Hela-S3	cervix
17	chr11:86014800-86049200	Weak transcription	HUVEC	blood vessel
18	chr11:86014800-86058600	Weak transcription	NHLF	lung
19	chr11:86015000-86036000	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:86015000-86046000	Weak transcription	NHEK	skin
21	chr11:86015000-86061000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:86015200-86045800	Weak transcription	Osteobl	bone
23	chr11:86015200-86051400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:86015400-86036200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:86015400-86045800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:86015400-86048400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:86015400-86049000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr11:86015400-86059600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:86015600-86048600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:86020400-86057200	Weak transcription	Small Intestine	intestine
31	chr11:86022000-86048800	Weak transcription	Gastric	stomach
32	chr11:86022000-86061000	Weak transcription	Esophagus	oesophagus
33	chr11:86023800-86061200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:86024000-86042600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:86024200-86052200	Weak transcription	Colonic Mucosa	Colon
36	chr11:86024600-86057400	Weak transcription	Pancreas	Pancrea
37	chr11:86025000-86061600	Weak transcription	Psoas Muscle	Psoas
38	chr11:86025200-86057800	Weak transcription	HepG2	liver
39	chr11:86026000-86036600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr11:86026000-86046000	Weak transcription	HMEC	breast
41	chr11:86026000-86049000	Weak transcription	K562	blood
42	chr11:86026800-86037400	Strong transcription	Fetal Stomach	stomach
43	chr11:86027400-86040000	Weak transcription	NHDF-Ad	bronchial
44	chr11:86028400-86048800	Weak transcription	Spleen	Spleen
45	chr11:86028400-86059200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:86029600-86036600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:86029600-86050800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr11:86029800-86036400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr11:86029800-86037200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:86029800-86038800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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