Variant report

Variant	rs11228131
Chromosome Location	chr11:67870321-67870322
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	chr11:67868820..67870602-chr11:67873285..67875564,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10791956	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10791957	0.95[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896293	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896298	0.81[MEX][hapmap]
rs11228127	0.82[CHB][hapmap]
rs11228129	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11228133	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11228136	0.83[ASN][1000 genomes]
rs11228137	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11228144	0.88[JPT][hapmap]
rs11228145	0.89[JPT][hapmap]
rs11535788	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11824199	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1894204	0.80[MEX][hapmap]
rs2457179	0.95[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.89[ASN][1000 genomes]
rs2457180	0.95[CHB][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[ASN][1000 genomes]
rs2511437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2511467	0.92[CEU][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2511468	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2511469	0.89[JPT][hapmap]
rs2511470	1.00[ASW][hapmap];0.88[CEU][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.87[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2511472	0.89[JPT][hapmap]
rs2511475	0.92[CEU][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2511478	0.83[EUR][1000 genomes]
rs2511479	0.92[CEU][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes]
rs2512611	0.95[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.89[ASN][1000 genomes]
rs2512612	0.95[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2512623	0.89[JPT][hapmap];0.90[MEX][hapmap]
rs2512624	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3133327	0.87[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3819255	0.96[CEU][hapmap];0.89[ASN][1000 genomes]
rs3935460	0.95[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4073551	0.95[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.89[ASN][1000 genomes]
rs4147780	0.81[GIH][hapmap]
rs4345973	0.81[MEX][hapmap]
rs4420277	0.85[ASN][1000 genomes]
rs4930227	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4930557	0.95[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930561	0.81[MEX][hapmap]
rs61890478	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6591331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6591333	0.80[AMR][1000 genomes]
rs7104982	0.86[ASN][1000 genomes]
rs7123183	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71480230	0.88[ASN][1000 genomes]
rs7925022	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7925423	0.86[ASN][1000 genomes]
rs7928739	0.95[CHB][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[ASN][1000 genomes]
rs7931502	0.81[MEX][hapmap]
rs7940217	0.89[ASN][1000 genomes]
rs7940501	0.81[CHB][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes]
rs7944372	0.81[CHB][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][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	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	esv2757450	chr11:67472905-67891289	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
3	esv2759835	chr11:67472905-67891289	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
4	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11228131	FGF19	cis	parietal	SCAN
rs11228131	SF1	cis	parietal	SCAN
rs11228131	PACS1	cis	parietal	SCAN
rs11228131	SPDYC	cis	parietal	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67812200-67875400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:67831400-67884400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:67838000-67879200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:67839200-67870600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:67839800-67873200	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:67839800-67886000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:67848400-67886400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:67848800-67874200	Weak transcription	Colonic Mucosa	Colon
9	chr11:67849000-67885400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:67849400-67873800	Weak transcription	Spleen	Spleen
11	chr11:67849400-67887400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:67850400-67874000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:67850800-67875200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:67851400-67873600	Weak transcription	Fetal Stomach	stomach
15	chr11:67857600-67875000	Weak transcription	Lung	lung
16	chr11:67862400-67875000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:67862400-67877000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:67862400-67881400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:67863600-67874200	Weak transcription	Gastric	stomach
20	chr11:67864400-67883400	Weak transcription	Hela-S3	cervix
21	chr11:67864600-67873200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:67865200-67870600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:67865400-67871600	Enhancers	Liver	Liver
24	chr11:67867200-67873200	Weak transcription	Brain Angular Gyrus	brain
25	chr11:67867200-67873600	Weak transcription	Fetal Brain Female	brain
26	chr11:67867400-67870400	Weak transcription	Brain Substantia Nigra	brain
27	chr11:67867400-67873000	Weak transcription	Small Intestine	intestine
28	chr11:67867400-67873200	Weak transcription	Right Ventricle	heart
29	chr11:67867400-67873200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:67867400-67884200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:67867400-67884400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:67867400-67885200	Weak transcription	HSMMtube	muscle
33	chr11:67867400-67885600	Weak transcription	Primary B cells from cord blood	blood
34	chr11:67867400-67886200	Weak transcription	Thymus	Thymus
35	chr11:67867600-67873000	Weak transcription	Fetal Heart	heart
36	chr11:67867600-67873200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:67867600-67874800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:67867600-67881400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:67867600-67884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:67867600-67885400	Weak transcription	HSMM	muscle
41	chr11:67867800-67873200	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:67867800-67873200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:67867800-67873200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:67867800-67873600	Weak transcription	Fetal Muscle Leg	muscle
45	chr11:67867800-67881400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:67868000-67870600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:67868000-67873000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr11:67868000-67873600	Weak transcription	Psoas Muscle	Psoas
49	chr11:67868000-67873600	Weak transcription	Right Atrium	heart
50	chr11:67868000-67875000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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