Variant report

Variant	rs2282491
Chromosome Location	chr11:63918373-63918374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63898040..63900955-chr11:63917513..63921535,3	K562	blood:
2	chr11:63916625..63918518-chr11:63924458..63926183,2	MCF-7	breast:
3	chr11:63914043..63916614-chr11:63918167..63922101,5	MCF-7	breast:
4	chr11:63916568..63919170-chr11:63931841..63933919,2	MCF-7	breast:
5	chr11:63917406..63919921-chr11:63931137..63933624,2	MCF-7	breast:
6	chr11:63916483..63918216-chr11:63918316..63920658,3	K562	blood:
7	chr11:63918153..63920465-chr11:63921554..63923972,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133315	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11601522	0.88[ASN][1000 genomes]
rs11603192	0.88[CEU][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603384	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11603538	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11604782	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12418535	0.84[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12420070	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2282492	0.92[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515241	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2701533	0.80[ASN][1000 genomes]
rs2845597	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3888316	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60452247	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs614397	0.88[YRI][hapmap]
rs6591836	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7102177	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7111753	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7112960	0.88[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
3	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
4	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv832184	chr11:63787702-63925084	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
7	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
8	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
9	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
10	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
11	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
12	esv1801661	chr11:63894054-63937949	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv897663	chr11:63910153-63962152	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2282491	NUDT22	Cis_1M	lymphoblastoid	RTeQTL
rs2282491	TRPT1	cis	Muscle Skeletal	GTEx
rs2282491	PPP1R14B	cis	Muscle Skeletal	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63895800-63920000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:63897200-63918400	Weak transcription	Dnd41	blood
3	chr11:63900200-63931800	Weak transcription	Lung	lung
4	chr11:63911400-63920200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr11:63911600-63919800	Weak transcription	Primary B cells from cord blood	blood
6	chr11:63911600-63920400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:63911600-63932600	Weak transcription	Primary T cells from cord blood	blood
8	chr11:63911800-63920200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:63914000-63921600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:63914200-63919000	Weak transcription	HepG2	liver
11	chr11:63914200-63920200	Weak transcription	K562	blood
12	chr11:63914400-63918400	Weak transcription	Esophagus	oesophagus
13	chr11:63914400-63920200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:63915200-63918800	Enhancers	Fetal Brain Male	brain
15	chr11:63915400-63919000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:63915400-63919000	Enhancers	Right Ventricle	heart
17	chr11:63915600-63919000	Enhancers	Left Ventricle	heart
18	chr11:63915600-63919000	Enhancers	Psoas Muscle	Psoas
19	chr11:63916000-63918600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr11:63916000-63920200	Weak transcription	Colonic Mucosa	Colon
21	chr11:63916200-63918600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr11:63916200-63920000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:63916200-63920200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:63916200-63920200	Weak transcription	NH-A	brain
25	chr11:63916200-63920400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:63916200-63920400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:63916200-63920400	Weak transcription	A549	lung
28	chr11:63916200-63920800	Enhancers	Liver	Liver
29	chr11:63916200-63921000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:63916200-63924200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:63916200-63932000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:63916400-63918800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:63916400-63919000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:63916400-63919000	Enhancers	Fetal Brain Female	brain
35	chr11:63916400-63919800	Strong transcription	Hela-S3	cervix
36	chr11:63916400-63920200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:63916400-63920200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr11:63916400-63920400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:63916400-63920400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr11:63916400-63921400	Enhancers	Brain Germinal Matrix	brain
41	chr11:63916400-63932000	Weak transcription	Stomach Mucosa	stomach
42	chr11:63916600-63918400	Enhancers	Brain Cingulate Gyrus	brain
43	chr11:63916600-63918400	Enhancers	Spleen	Spleen
44	chr11:63916600-63918600	Genic enhancers	Fetal Stomach	stomach
45	chr11:63916600-63919200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:63916600-63919400	Genic enhancers	Fetal Muscle Leg	muscle
47	chr11:63916600-63919800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:63916600-63920000	Strong transcription	Fetal Intestine Small	intestine
49	chr11:63916600-63920200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:63916600-63920200	Weak transcription	Fetal Thymus	thymus

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