Variant report

Variant	rs157779
Chromosome Location	chr15:76761306-76761307
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr15:76761078-76761449	HepG2	liver:	n/a	chr15:76761258-76761273
2	MAFF	chr15:76761090-76761440	HepG2	liver:	n/a	chr15:76761257-76761275
3	POLR2A	chr15:76761259-76761339	MCF10A-Er-Src	breast:	n/a	n/a
4	MAFK	chr15:76761158-76761366	K562	blood:	n/a	chr15:76761258-76761273
5	MAFK	chr15:76761096-76761448	IMR90	lung:	n/a	chr15:76761258-76761273
6	MAFK	chr15:76761078-76761444	HepG2	liver:	n/a	chr15:76761258-76761273
7	MAFK	chr15:76761066-76761329	H1-hESC	embryonic stem cell:	n/a	chr15:76761258-76761273
8	MAFF	chr15:76761124-76761408	K562	blood:	n/a	chr15:76761257-76761275
9	MAFK	chr15:76761103-76761394	Hela-S3	cervix:	n/a	chr15:76761258-76761273

Variant related genes	Relation type
ENSG00000261232	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs157760	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs157761	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs157763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs157766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs157768	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs157769	1.00[JPT][hapmap]
rs157777	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs157778	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[ASN][1000 genomes]
rs157789	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs1810348	0.80[CHB][hapmap]
rs182253	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs190771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078437	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2460161	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2468123	0.81[YRI][hapmap]
rs2469554	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs283796	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs283802	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs284886	0.87[ASN][1000 genomes]
rs284898	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs284902	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs284903	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs284904	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs284905	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs284907	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs2957560	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2957607	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs387321	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs403656	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs438915	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4636879	0.82[CHB][hapmap]
rs480672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886491	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs4886492	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs494268	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs506000	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs8031378	0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs8031672	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs874224	0.80[CHB][hapmap]
rs9806402	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv542438	chr15:76697056-76892157	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs157779	ISL2	cis	Whole Blood	GTEx
rs157779	RP11-797A18.4	cis	lung	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76711600-76767200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:76720800-76763600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:76725800-76812600	Weak transcription	Left Ventricle	heart
4	chr15:76742800-76762400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:76750400-76763800	Weak transcription	Placenta	Placenta
6	chr15:76753200-76762800	Weak transcription	Esophagus	oesophagus
7	chr15:76753600-76761600	Weak transcription	Adipose Nuclei	Adipose
8	chr15:76753800-76764400	Weak transcription	Fetal Intestine Large	intestine
9	chr15:76754000-76764400	Weak transcription	Brain Hippocampus Middle	brain
10	chr15:76754200-76763600	Weak transcription	Pancreas	Pancrea
11	chr15:76754400-76763600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:76754800-76762000	Weak transcription	Ovary	ovary
13	chr15:76754800-76764400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr15:76755600-76764600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr15:76757800-76765200	Weak transcription	Aorta	Aorta
16	chr15:76758400-76765600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr15:76758600-76762400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:76758800-76764400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:76758800-76765000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr15:76758800-76765200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:76759200-76762600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:76759200-76763800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr15:76759200-76764400	Weak transcription	Psoas Muscle	Psoas
24	chr15:76759400-76761800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr15:76759400-76762600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr15:76759400-76763600	Strong transcription	Liver	Liver
27	chr15:76759400-76764400	Weak transcription	Fetal Muscle Leg	muscle
28	chr15:76759800-76761800	Weak transcription	Dnd41	blood
29	chr15:76759800-76762800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr15:76759800-76763400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr15:76759800-76770400	Weak transcription	Colon Smooth Muscle	Colon
32	chr15:76760000-76762400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr15:76760000-76772600	Weak transcription	GM12878-XiMat	blood
34	chr15:76760400-76773800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr15:76760600-76763000	Weak transcription	Right Ventricle	heart
36	chr15:76760600-76764200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr15:76760800-76763000	Strong transcription	Primary B cells from cord blood	blood
38	chr15:76760800-76763000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr15:76760800-76763400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:76760800-76763400	Weak transcription	Brain Angular Gyrus	brain
41	chr15:76760800-76764200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr15:76761000-76761800	ZNF genes & repeats	Primary T cells from cord blood	blood
43	chr15:76761000-76763200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr15:76761000-76763400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr15:76761000-76763600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr15:76761200-76761400	ZNF genes & repeats	Brain Anterior Caudate	brain
47	chr15:76761200-76761400	ZNF genes & repeats	Fetal Heart	heart
48	chr15:76761200-76761400	ZNF genes & repeats	Small Intestine	intestine
49	chr15:76761200-76762000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr15:76761200-76762800	Strong transcription	Rectal Mucosa Donor 29	rectum

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