Variant report

Variant	rs10791957
Chromosome Location	chr11:67867548-67867549
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67809654..67811922-chr11:67865827..67868439,2	K562	blood:
2	chr11:67865554..67868240-chr11:67887604..67889388,2	K562	blood:
3	chr11:67865867..67868985-chr11:67980385..67983010,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110719	Chromatin interaction
ENSG00000110721	Chromatin interaction
ENSG00000110066	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10791956	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10791959	0.84[EUR][1000 genomes]
rs10896293	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896295	0.95[CEU][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10896298	0.81[MEX][hapmap]
rs11228129	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11228131	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]
rs11228133	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11228136	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11228137	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11228139	1.00[CEU][hapmap]
rs11228142	1.00[CEU][hapmap]
rs11228144	0.88[JPT][hapmap]
rs11228145	0.92[CEU][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes]
rs11535788	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11824199	0.89[ASN][1000 genomes]
rs12270493	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1894204	0.80[MEX][hapmap]
rs2457179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2457180	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2511437	0.95[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511467	0.89[JPT][hapmap]
rs2511469	0.92[CEU][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes]
rs2511470	0.83[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap]
rs2511472	0.92[CEU][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes]
rs2511475	0.86[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap]
rs2511479	0.89[JPT][hapmap]
rs2512608	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2512611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2512612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2512623	0.92[CEU][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs3133327	0.82[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3819255	0.90[ASN][1000 genomes]
rs3935460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4073551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4147780	0.82[CEU][hapmap];0.89[GIH][hapmap]
rs4345973	0.81[MEX][hapmap]
rs4420277	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4930227	0.94[ASN][1000 genomes]
rs4930557	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930561	0.81[MEX][hapmap]
rs61890478	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6591331	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6591333	0.91[EUR][1000 genomes]
rs7104982	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7123183	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7123668	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7124058	0.89[EUR][1000 genomes]
rs71480230	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7925022	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7925423	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7928739	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.85[MEX][hapmap];0.90[MKK][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7931502	0.81[MEX][hapmap]
rs7940113	0.87[EUR][1000 genomes]
rs7940217	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7940501	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs7944372	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs884826	0.82[CEU][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10791957	FGF19	cis	parietal	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

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	chr11:67864800-67867800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr11:67865200-67870600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:67865400-67868600	Weak transcription	Stomach Mucosa	stomach
25	chr11:67865400-67871600	Enhancers	Liver	Liver
26	chr11:67866200-67867600	Enhancers	Fetal Lung	lung
27	chr11:67866200-67867800	Enhancers	Brain Hippocampus Middle	brain
28	chr11:67866200-67868400	Enhancers	Primary B cells from peripheral blood	blood
29	chr11:67866200-67868800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:67866200-67868800	Enhancers	Left Ventricle	heart
31	chr11:67866200-67869000	Enhancers	Brain Cingulate Gyrus	brain
32	chr11:67866400-67867600	Enhancers	HSMM	muscle
33	chr11:67866400-67867800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr11:67866400-67867800	Weak transcription	Pancreas	Pancrea
35	chr11:67866400-67868400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr11:67866400-67868800	Enhancers	Fetal Intestine Small	intestine
37	chr11:67866400-67870200	Enhancers	Fetal Intestine Large	intestine
38	chr11:67866600-67867800	Flanking Active TSS	GM12878-XiMat	blood
39	chr11:67867000-67867600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr11:67867000-67867600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:67867000-67867600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:67867000-67867600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr11:67867000-67867600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr11:67867000-67867600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr11:67867000-67867600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr11:67867000-67867600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:67867000-67867600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr11:67867000-67867600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr11:67867000-67867600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr11:67867000-67867600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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