Variant report

Variant	rs11600867
Chromosome Location	chr11:63972052-63972053
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1058735	0.85[YRI][hapmap]
rs1059440	1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11231701	0.80[EUR][1000 genomes]
rs11601024	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11601577	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11602181	0.80[EUR][1000 genomes]
rs11603212	1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11605738	0.82[YRI][hapmap]
rs11606544	0.80[EUR][1000 genomes]
rs11607007	0.82[YRI][hapmap]
rs11607144	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11607165	1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12575642	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12787852	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12794145	0.82[YRI][hapmap]
rs12797120	0.80[EUR][1000 genomes]
rs12802950	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2001003	0.82[YRI][hapmap]
rs2015226	0.80[EUR][1000 genomes]
rs2070765	0.82[YRI][hapmap]
rs2282490	1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2875749	0.80[EUR][1000 genomes]
rs34113693	0.80[EUR][1000 genomes]
rs35095324	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35458188	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35524387	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35858916	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3802933	1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58632573	0.80[EUR][1000 genomes]
rs6591837	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66648159	0.80[EUR][1000 genomes]
rs67546972	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7102327	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs7112277	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7130030	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71479474	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72920332	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7939784	1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7944061	0.87[ASN][1000 genomes]
rs7952318	0.85[ASN][1000 genomes]
rs882146	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	237 gene(s)	inside rSNPs	diseases
10	nsv468592	chr11:63924446-64042997	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
11	nsv555184	chr11:63924446-64042997	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
12	nsv897665	chr11:63927695-64026144	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
13	nsv897666	chr11:63929493-64026144	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
14	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
15	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
16	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
17	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
18	nsv468595	chr11:63953121-64027888	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
19	nsv555187	chr11:63953121-64027888	Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
20	nsv897667	chr11:63964657-64078380	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
21	nsv897668	chr11:63964657-64085298	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
22	nsv897669	chr11:63964657-64089874	Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
23	nsv897670	chr11:63964657-64097233	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
24	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
25	nsv541061	chr11:63970174-64010995	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11600867	TRPT1	cis	Muscle Skeletal	GTEx
rs11600867	PPP1R14B	cis	multi-tissue	Pritchard
rs11600867	PPP1R14B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63955200-63974400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:63955200-63975000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:63955200-63975200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:63955800-63975400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:63956000-63973600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:63956200-63974200	Weak transcription	Right Atrium	heart
7	chr11:63957400-63974800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:63957400-63975800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:63959200-63972200	Strong transcription	Lung	lung
10	chr11:63959600-63975000	Strong transcription	NHEK	skin
11	chr11:63959600-63976000	Strong transcription	Fetal Brain Female	brain
12	chr11:63959600-63977000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:63959800-63973400	Strong transcription	Right Ventricle	heart
14	chr11:63959800-63976000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:63960000-63972200	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr11:63960000-63972200	Strong transcription	Left Ventricle	heart
17	chr11:63960000-63972200	Strong transcription	HepG2	liver
18	chr11:63960000-63973400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:63960000-63974400	Strong transcription	Brain Substantia Nigra	brain
20	chr11:63960000-63975400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:63960000-63975600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:63960000-63976200	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr11:63960200-63972200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:63960200-63973400	Strong transcription	Gastric	stomach
25	chr11:63960400-63972200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:63960400-63972400	Strong transcription	Fetal Lung	lung
27	chr11:63960800-63972200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:63964000-63975200	Strong transcription	Brain Angular Gyrus	brain
29	chr11:63964400-63974400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:63967200-63972200	Strong transcription	Esophagus	oesophagus
31	chr11:63967200-63972200	Strong transcription	HUVEC	blood vessel
32	chr11:63967200-63973800	Strong transcription	Pancreas	Pancrea
33	chr11:63967200-63974000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:63967200-63975600	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr11:63967400-63972600	Strong transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:63967400-63976200	Strong transcription	Brain Germinal Matrix	brain
37	chr11:63968000-63974400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr11:63969400-63973400	Strong transcription	Liver	Liver
39	chr11:63969400-63974200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
40	chr11:63970200-63979000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:63970400-63973800	Genic enhancers	Fetal Thymus	thymus
42	chr11:63970600-63975200	Weak transcription	Fetal Brain Male	brain
43	chr11:63971000-63972800	Genic enhancers	GM12878-XiMat	blood
44	chr11:63971000-63973400	Genic enhancers	Dnd41	blood
45	chr11:63971000-63974200	Weak transcription	Small Intestine	intestine
46	chr11:63971200-63972600	Genic enhancers	Fetal Stomach	stomach
47	chr11:63971200-63972600	Genic enhancers	Hela-S3	cervix
48	chr11:63971200-63973600	Genic enhancers	K562	blood
49	chr11:63971200-63974200	Genic enhancers	Fetal Muscle Leg	muscle
50	chr11:63971400-63972200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin

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