Variant report

Variant	rs11235876
Chromosome Location	chr11:73430601-73430602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10751229	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10793065	0.85[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap]
rs10793066	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10793067	0.92[ASW][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.87[MEX][hapmap];0.87[YRI][hapmap]
rs10898930	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10898931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10898935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10898936	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10898938	0.85[TSI][hapmap];1.00[YRI][hapmap]
rs11235861	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235862	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235883	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235884	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11602887	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12361691	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12420357	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12788229	0.80[AMR][1000 genomes]
rs12788426	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1404976	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1525749	0.85[CEU][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.81[TSI][hapmap]
rs1614987	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1632159	0.89[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap]
rs1670537	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1670540	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1670543	0.81[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs1670549	0.82[ASN][1000 genomes]
rs1670557	1.00[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap]
rs1670564	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1670565	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1723835	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1723843	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1723848	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792156	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.81[EUR][1000 genomes]
rs1792160	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1792161	0.82[ASN][1000 genomes]
rs1792165	0.91[CHB][hapmap];0.86[CHD][hapmap]
rs1792166	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792174	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1792176	0.84[ASN][1000 genomes]
rs1792180	0.82[ASN][1000 genomes]
rs1792193	0.91[CHB][hapmap];0.86[CHD][hapmap]
rs1792198	0.92[ASW][hapmap];0.81[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.87[YRI][hapmap]
rs2008734	0.85[CEU][hapmap]
rs2140893	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2367187	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2367188	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2462621	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2511261	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2511272	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2512625	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2512628	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2512629	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2515093	0.81[ASN][1000 genomes]
rs2886816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3817514	0.85[CEU][hapmap];0.83[JPT][hapmap]
rs3862797	0.84[CEU][hapmap];0.83[JPT][hapmap]
rs4471449	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4514449	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4558190	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6592533	0.83[EUR][1000 genomes]
rs7104603	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7119055	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7925514	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7933372	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7938731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940132	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs868667	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9705336	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv390	chr11:73388188-73432899	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11235876	PLEKHB1	cis	parietal	SCAN
rs11235876	MRPL48	cis	multi-tissue	Pritchard
rs11235876	MRPL48	cis	cerebellum	SCAN
rs11235876	MRPL48	cis	lymphoblastoid	seeQTL
rs11235876	RNF121	cis	cerebellum	SCAN
rs11235876	PAAF1	cis	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73382200-73436000	Weak transcription	Small Intestine	intestine
2	chr11:73382200-73441200	Weak transcription	Stomach Mucosa	stomach
3	chr11:73385000-73449800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:73389000-73445400	Weak transcription	Fetal Brain Male	brain
5	chr11:73389200-73440200	Weak transcription	Right Ventricle	heart
6	chr11:73391000-73433600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:73396000-73448000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:73400400-73449400	Weak transcription	Psoas Muscle	Psoas
9	chr11:73407000-73432000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:73409600-73447800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:73410000-73434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:73410800-73431800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:73411000-73447600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:73411000-73460000	Weak transcription	Colonic Mucosa	Colon
15	chr11:73413400-73440400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
17	chr11:73413600-73447600	Weak transcription	Left Ventricle	heart
18	chr11:73415000-73436400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:73415000-73470200	Weak transcription	Aorta	Aorta
20	chr11:73417000-73440400	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:73417200-73469600	Weak transcription	Fetal Kidney	kidney
22	chr11:73418200-73443400	Weak transcription	Brain Germinal Matrix	brain
23	chr11:73418400-73463200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:73422400-73443400	Weak transcription	Spleen	Spleen
25	chr11:73422400-73454000	Weak transcription	Gastric	stomach
26	chr11:73422800-73436000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:73422800-73448000	Weak transcription	Fetal Brain Female	brain
28	chr11:73424000-73431800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:73424600-73432400	Strong transcription	HepG2	liver
30	chr11:73426000-73432600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:73426200-73430800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:73426800-73435800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:73427600-73430800	Strong transcription	Primary T cells from cord blood	blood
34	chr11:73427600-73445600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:73427800-73433800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr11:73428000-73431800	Strong transcription	Hela-S3	cervix
37	chr11:73428000-73436200	Weak transcription	A549	lung
38	chr11:73428000-73445600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:73428200-73430800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr11:73428200-73431600	Strong transcription	Fetal Intestine Small	intestine
41	chr11:73428400-73431200	Weak transcription	Fetal Heart	heart
42	chr11:73428400-73431600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:73428400-73431600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:73428400-73432600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:73428400-73469800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:73428600-73430800	Strong transcription	Primary B cells from cord blood	blood
47	chr11:73428600-73431000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:73428600-73432200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:73428600-73440400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr11:73428800-73431600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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