Variant report

Variant	rs581247
Chromosome Location	chr11:65978356-65978357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65839190..65841660-chr11:65977914..65980146,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1151532	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190946	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1191715	0.88[AFR][1000 genomes]
rs1203551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203749	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203750	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203801	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1300706	0.81[AFR][1000 genomes]
rs1630638	0.88[AFR][1000 genomes]
rs1783562	0.85[AFR][1000 genomes]
rs1783732	1.00[YRI][hapmap]
rs2430981	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2452687	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016315	0.92[AFR][1000 genomes]
rs3017606	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4523703	0.83[YRI][hapmap]
rs471203	1.00[MEX][hapmap]
rs471709	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs472853	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475817	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477001	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs485547	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4930169	1.00[MEX][hapmap]
rs4930332	0.89[AFR][1000 genomes]
rs502898	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs504456	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505412	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505642	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs510398	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs512316	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs515778	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519911	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs527279	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs541954	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs547282	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs547892	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs549228	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551652	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs555527	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs555826	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs559298	0.84[ASW][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs560105	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561199	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561869	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs567414	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs568423	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs571368	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs572697	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577301	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591196	0.85[AFR][1000 genomes]
rs693382	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7934588	0.82[AFR][1000 genomes]
rs7947668	0.88[AFR][1000 genomes]
rs948358	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs948477	1.00[YRI][hapmap];0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv3332923	chr11:65961593-65981589	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs581247	LOC404266	trans	lymphoblastoid	seeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65950200-65978400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:65957000-65978400	Weak transcription	Brain Angular Gyrus	brain
3	chr11:65958800-65978600	Weak transcription	Pancreas	Pancrea
4	chr11:65958800-65983600	Weak transcription	Small Intestine	intestine
5	chr11:65958800-65989200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:65959200-65989400	Weak transcription	K562	blood
7	chr11:65959400-65983400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:65959600-65978400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:65959600-65983600	Weak transcription	Colonic Mucosa	Colon
10	chr11:65960200-65984000	Weak transcription	Fetal Heart	heart
11	chr11:65960600-65980600	Weak transcription	Fetal Kidney	kidney
12	chr11:65960600-65983600	Weak transcription	Fetal Brain Male	brain
13	chr11:65961200-65983600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:65961400-66011200	Weak transcription	Psoas Muscle	Psoas
15	chr11:65961600-65979000	Weak transcription	Dnd41	blood
16	chr11:65962200-65983800	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:65962400-65983600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:65962800-65983600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:65963000-65984200	Weak transcription	HUVEC	blood vessel
20	chr11:65964000-65983600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:65964000-65989600	Weak transcription	Stomach Mucosa	stomach
22	chr11:65966000-65979000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:65966400-65983600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:65974200-65983400	Weak transcription	NHEK	skin
25	chr11:65975400-65983600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:65976000-65978400	Weak transcription	Brain Germinal Matrix	brain
27	chr11:65976000-65983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:65976400-65978600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:65976400-65989200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:65976400-65989600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr11:65976600-66006000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:65976800-65980600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:65976800-65983600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:65976800-65989600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr11:65976800-65996000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:65977000-65978600	Weak transcription	Fetal Intestine Large	intestine
37	chr11:65977000-65978600	Weak transcription	HSMM	muscle
38	chr11:65977000-65979200	Weak transcription	NHLF	lung
39	chr11:65977000-65989800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:65977200-65978600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:65977200-65978600	Weak transcription	A549	lung
42	chr11:65977200-65978800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:65977200-65983400	Weak transcription	HepG2	liver
44	chr11:65977200-65983600	Weak transcription	NH-A	brain
45	chr11:65977200-65984800	Weak transcription	NHDF-Ad	bronchial
46	chr11:65977200-65996000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:65977400-65983600	Weak transcription	Brain Substantia Nigra	brain
48	chr11:65977400-65990000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:65977400-66010600	Strong transcription	Fetal Stomach	stomach
50	chr11:65977600-65979800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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