Variant report

Variant	rs11857327
Chromosome Location	chr15:76764263-76764264
allele	C/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	GATA3	chr15:76763625-76764275	SK-N-SH	brain:	n/a	chr15:76764132-76764139 chr15:76763916-76763929 chr15:76764132-76764139 chr15:76764132-76764139 chr15:76764132-76764142
2	TEAD4	chr15:76764222-76764591	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000261232	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10851888	0.95[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.87[YRI][hapmap]
rs11072587	0.80[JPT][hapmap]
rs11072591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11072597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072610	0.95[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.87[YRI][hapmap]
rs11072612	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs11629888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11632222	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11634019	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes]
rs11634060	0.81[JPT][hapmap]
rs11635463	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11637096	0.95[CEU][hapmap];0.85[CHB][hapmap]
rs11637490	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11855999	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11856717	0.86[CHB][hapmap]
rs11857015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12437981	0.95[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs12440965	0.91[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.87[YRI][hapmap]
rs12591100	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12898810	0.81[AFR][1000 genomes]
rs12900179	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12903874	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12904417	0.91[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs12906143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12909656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs157783	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1607015	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1607017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16968083	0.80[JPT][hapmap]
rs2003344	0.81[AMR][1000 genomes]
rs2047504	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs2048856	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs206205	0.87[ASN][1000 genomes]
rs2164102	0.81[AFR][1000 genomes]
rs2280306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2404734	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs2436994	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2436996	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2454450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2454451	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs2454454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2459361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2461870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2461871	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2461872	0.84[CEU][hapmap];0.90[CHB][hapmap];0.84[AMR][1000 genomes]
rs2468130	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2468131	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2469249	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283793	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs283795	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs284891	0.86[ASN][1000 genomes]
rs284892	0.85[ASN][1000 genomes]
rs284899	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs284909	0.87[ASN][1000 genomes]
rs2944378	0.86[ASN][1000 genomes]
rs2957614	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3765115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs437131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4886488	0.88[JPT][hapmap]
rs4886493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4886495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4886798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4886800	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4886805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4886816	0.95[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap]
rs4886819	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs56246286	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57682236	0.85[AFR][1000 genomes]
rs62028380	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62028406	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62028423	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62028434	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71405204	0.83[AMR][1000 genomes]
rs7181506	0.91[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs744336	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs8029283	0.95[CEU][hapmap];0.85[CHB][hapmap]
rs8030454	0.80[JPT][hapmap]
rs8037847	0.95[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs908817	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs965818	0.95[CEU][hapmap];0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv542439	chr15:76762161-77196336	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs11857327	SCAPER	cis	Esophagus Mucosa	GTEx
rs11857327	SCAPER	cis	Artery Tibial	GTEx
rs11857327	SCAPER	cis	Muscle Skeletal	GTEx
rs11857327	SCAPER	cis	Nerve Tibial	GTEx
rs11857327	SCAPER	cis	lung	GTEx
rs11857327	ZNF291	cis	lesional skin	skin_eQTL
rs11857327	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs11857327	SCAPER	cis	Whole Blood	GTEx
rs11857327	SCAPER	cis	Adipose Subcutaneous	GTEx
rs11857327	SCAPER	cis	Thyroid	GTEx
rs11857327	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs11857327	SCAPER	cis	Skin Sun Exposed Lower leg	GTEx
rs11857327	SCAPER	cis	Esophagus Muscularis	GTEx
rs11857327	ZNF291	cis	uninvolved skin	skin_eQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76711600-76767200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:76725800-76812600	Weak transcription	Left Ventricle	heart
3	chr15:76753800-76764400	Weak transcription	Fetal Intestine Large	intestine
4	chr15:76754000-76764400	Weak transcription	Brain Hippocampus Middle	brain
5	chr15:76754800-76764400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr15:76755600-76764600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr15:76757800-76765200	Weak transcription	Aorta	Aorta
8	chr15:76758400-76765600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr15:76758800-76764400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:76758800-76765000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr15:76758800-76765200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:76759200-76764400	Weak transcription	Psoas Muscle	Psoas
13	chr15:76759400-76764400	Weak transcription	Fetal Muscle Leg	muscle
14	chr15:76759800-76770400	Weak transcription	Colon Smooth Muscle	Colon
15	chr15:76760000-76772600	Weak transcription	GM12878-XiMat	blood
16	chr15:76760400-76773800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr15:76761200-76764800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:76761400-76765400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:76762000-76771400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:76762400-76765200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:76762800-76764400	Weak transcription	Dnd41	blood
22	chr15:76762800-76764600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr15:76762800-76765400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr15:76762800-76765600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr15:76762800-76771200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:76763000-76764600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:76763000-76764600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr15:76763000-76768200	Weak transcription	Ovary	ovary
29	chr15:76763000-76768600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr15:76763000-76795000	Weak transcription	Primary B cells from cord blood	blood
31	chr15:76763200-76765000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:76763200-76770200	Weak transcription	Adipose Nuclei	Adipose
33	chr15:76763400-76765000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr15:76763400-76765000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr15:76763400-76765000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:76763400-76767200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr15:76763600-76765800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr15:76763600-76775200	Weak transcription	Liver	Liver
39	chr15:76764000-76764600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:76764200-76766000	Weak transcription	Primary T cells from cord blood	blood
41	chr15:76764200-76766000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr15:76764200-76767000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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