Variant report

Variant	rs7219810
Chromosome Location	chr17:16216059-16216060
allele	A/C
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	PAX5	chr17:16215974-16216213	GM12878	blood:	n/a	n/a
2	PAX5	chr17:16215912-16216271	GM12878	blood:	n/a	n/a
3	PAX5	chr17:16215880-16216258	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
PIGL	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2302314	0.89[EUR][1000 genomes]
rs60374261	1.00[ASN][1000 genomes]
rs7209811	0.89[EUR][1000 genomes]
rs7210068	0.89[EUR][1000 genomes]
rs7210264	0.86[ASN][1000 genomes]
rs7212326	0.86[ASN][1000 genomes]
rs7212874	0.86[ASN][1000 genomes]
rs7215673	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217418	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7218342	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219665	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7219795	0.89[ASN][1000 genomes]
rs7219980	0.89[ASN][1000 genomes]
rs7223807	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7225926	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73978817	0.89[ASN][1000 genomes]
rs764984	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8065649	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8068335	0.89[EUR][1000 genomes]
rs8069052	0.89[EUR][1000 genomes]
rs9674583	0.89[EUR][1000 genomes]

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	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
6	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16189400-16216600	Weak transcription	Fetal Brain Female	brain
2	chr17:16190600-16229600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr17:16190800-16216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:16190800-16220800	Weak transcription	Aorta	Aorta
5	chr17:16191400-16218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:16191400-16219400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr17:16191400-16226000	Weak transcription	HSMMtube	muscle
8	chr17:16191600-16216800	Weak transcription	Fetal Kidney	kidney
9	chr17:16191800-16217200	Weak transcription	HSMM	muscle
10	chr17:16192800-16229000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr17:16194000-16216400	Weak transcription	GM12878-XiMat	blood
12	chr17:16197800-16230000	Weak transcription	Brain Angular Gyrus	brain
13	chr17:16198400-16220400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr17:16200800-16216600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr17:16200800-16216600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr17:16200800-16228200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr17:16201000-16232400	Weak transcription	Hela-S3	cervix
18	chr17:16201200-16223200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr17:16201400-16216200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr17:16201600-16228800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr17:16201600-16246400	Weak transcription	Fetal Brain Male	brain
22	chr17:16201800-16221000	Weak transcription	Colonic Mucosa	Colon
23	chr17:16202200-16216400	Weak transcription	K562	blood
24	chr17:16202200-16216600	Weak transcription	Pancreas	Pancrea
25	chr17:16203600-16228800	Weak transcription	Primary B cells from cord blood	blood
26	chr17:16203800-16216400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr17:16203800-16216600	Weak transcription	Small Intestine	intestine
28	chr17:16204000-16219400	Weak transcription	Brain Germinal Matrix	brain
29	chr17:16204200-16220000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:16204200-16228800	Weak transcription	Brain Substantia Nigra	brain
31	chr17:16204600-16226000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:16205400-16228800	Weak transcription	Colon Smooth Muscle	Colon
33	chr17:16205800-16216400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr17:16205800-16216400	Weak transcription	NH-A	brain
35	chr17:16205800-16216600	Weak transcription	Spleen	Spleen
36	chr17:16205800-16218400	Weak transcription	Right Ventricle	heart
37	chr17:16205800-16220600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr17:16205800-16226000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr17:16205800-16228800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr17:16205800-16228800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr17:16205800-16229000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr17:16205800-16229000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr17:16205800-16245600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:16206000-16216600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:16206000-16216600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr17:16206000-16216600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr17:16206000-16216800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:16206000-16219800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:16206000-16219800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr17:16206000-16220400	Weak transcription	NHEK	skin

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