Variant report

Variant	rs10521057
Chromosome Location	chr9:104324545-104324546
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1113384	1.00[ASW][hapmap];0.86[CEU][hapmap];0.83[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap]
rs12005425	0.83[CHB][hapmap]
rs12683273	1.00[ASW][hapmap];0.86[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12684621	0.81[CEU][hapmap];0.87[CHB][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12684773	0.86[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12685862	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12686025	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16920438	0.86[CEU][hapmap];0.83[CHB][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16920447	0.93[MKK][hapmap]
rs16920479	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16920483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16920504	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1929484	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs45572636	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4742818	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4743465	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4743471	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[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57053192	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59111885	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59837044	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72743387	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72743390	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72743392	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72743394	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72743396	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72743397	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72745315	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72745318	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7867496	0.83[CHB][hapmap];0.97[CHD][hapmap]

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	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv893626	chr9:104172936-104324545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1052492	chr9:104263419-104387782	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv893627	chr9:104268342-104334333	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv831672	chr9:104300755-104480849	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10521057	ZNF782	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104296800-104334200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:104296800-104337400	Weak transcription	Stomach Mucosa	stomach
3	chr9:104297600-104330400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:104297600-104330400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr9:104297800-104325400	Strong transcription	Duodenum Mucosa	Duodenum
6	chr9:104297800-104332600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr9:104297800-104333000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr9:104298000-104332800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr9:104298200-104328200	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr9:104298200-104333200	Strong transcription	Adipose Nuclei	Adipose
11	chr9:104298400-104333200	Strong transcription	Liver	Liver
12	chr9:104298400-104333400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr9:104298600-104325000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:104299000-104333000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:104299200-104330400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:104300800-104327000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr9:104301200-104328800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr9:104301600-104333400	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:104301800-104331800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:104302200-104333000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr9:104305600-104325200	Strong transcription	Brain Hippocampus Middle	brain
22	chr9:104305600-104328600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:104306000-104329400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:104306200-104328000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:104307000-104328400	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr9:104310000-104326400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:104311800-104332400	Strong transcription	Fetal Intestine Large	intestine
28	chr9:104312600-104325800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:104312800-104325400	Strong transcription	Fetal Lung	lung
30	chr9:104313200-104335400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:104315000-104334600	Weak transcription	Small Intestine	intestine
32	chr9:104318200-104327400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr9:104318200-104333400	Strong transcription	Primary B cells from cord blood	blood
34	chr9:104318400-104326400	Weak transcription	Fetal Intestine Small	intestine
35	chr9:104319200-104325200	Strong transcription	Rectal Smooth Muscle	rectum
36	chr9:104319200-104325200	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr9:104319200-104325200	Strong transcription	HSMM	muscle
38	chr9:104319200-104327000	Strong transcription	Primary hematopoietic stem cells	blood
39	chr9:104319200-104328400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr9:104319400-104325000	Strong transcription	Fetal Kidney	kidney
41	chr9:104319400-104330600	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr9:104319600-104325200	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr9:104319600-104328000	Strong transcription	Left Ventricle	heart
44	chr9:104319600-104328200	Strong transcription	Ovary	ovary
45	chr9:104319600-104328600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:104319600-104330800	Strong transcription	Brain Anterior Caudate	brain
47	chr9:104319600-104330800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr9:104319600-104330800	Strong transcription	Fetal Muscle Leg	muscle
49	chr9:104319600-104333000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr9:104320000-104326400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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