Variant report

Variant	rs3816151
Chromosome Location	chr15:73067611-73067612
allele	C/T
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	MXI1	chr15:73067379-73067745	GM12878	blood:	n/a	n/a
2	SPI1	chr15:73067341-73067678	GM12891	blood:	n/a	chr15:73067540-73067553 chr15:73067539-73067552 chr15:73067542-73067551
3	MYC	chr15:73067405-73067938	NB4	blood:	n/a	n/a
4	SPI1	chr15:73067295-73067811	HL-60	blood:	n/a	chr15:73067540-73067553 chr15:73067539-73067552 chr15:73067542-73067551
5	SPI1	chr15:73067459-73067653	K562	blood:	n/a	chr15:73067540-73067553 chr15:73067539-73067552 chr15:73067542-73067551
6	ZNF384	chr15:73067397-73067613	GM12878	blood:	n/a	n/a
7	MAX	chr15:73067459-73067639	GM12878	blood:	n/a	n/a
8	SPI1	chr15:73067346-73067667	GM12891	blood:	n/a	chr15:73067540-73067553 chr15:73067539-73067552 chr15:73067542-73067551
9	IKZF1	chr15:73067479-73067679	GM12878	blood:	n/a	n/a
10	YY1	chr15:73067305-73067637	GM12878	blood:	n/a	n/a
11	SPI1	chr15:73067350-73067687	GM12878	blood:	n/a	chr15:73067540-73067553 chr15:73067539-73067552 chr15:73067542-73067551
12	SPI1	chr15:73067152-73067882	GM12878	blood:	n/a	chr15:73067540-73067553 chr15:73067539-73067552 chr15:73067542-73067551

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73006465..73009251-chr15:73067136..73069749,2	K562	blood:
2	chr15:73013682..73015798-chr15:73066928..73069614,2	K562	blood:

Variant related genes	Relation type
ADPGK	TF binding region
ENSG00000140463	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10467946	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11858132	1.00[ASN][1000 genomes]
rs12917453	1.00[JPT][hapmap]
rs13379630	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2277597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35731345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57287802	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57551071	0.93[ASN][1000 genomes]
rs57769940	1.00[EUR][1000 genomes]
rs58429461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59686861	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60154507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers 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 target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73041800-73071000	Strong transcription	Liver	Liver
2	chr15:73043800-73073600	Strong transcription	Fetal Thymus	thymus
3	chr15:73045000-73074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:73045200-73074200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:73048600-73075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:73057200-73069600	Strong transcription	Hela-S3	cervix
7	chr15:73057800-73067800	Weak transcription	Fetal Heart	heart
8	chr15:73058400-73069000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:73059200-73069600	Strong transcription	HSMM	muscle
10	chr15:73060000-73074000	Weak transcription	Stomach Mucosa	stomach
11	chr15:73060000-73075000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:73060200-73067800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:73060200-73075200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr15:73060400-73068200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:73060400-73070800	Strong transcription	Dnd41	blood
16	chr15:73060400-73073200	Weak transcription	Colon Smooth Muscle	Colon
17	chr15:73060600-73068000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr15:73060600-73068200	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:73060600-73072000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr15:73061200-73067800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr15:73061200-73068000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr15:73061200-73068200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:73061200-73070000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:73061400-73068000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr15:73061400-73068000	Strong transcription	Fetal Intestine Large	intestine
26	chr15:73061400-73068200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:73061400-73073400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:73061400-73073600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr15:73061400-73075000	Weak transcription	Fetal Kidney	kidney
30	chr15:73061800-73068200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:73061800-73068600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:73062000-73068200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:73062000-73068600	Strong transcription	K562	blood
34	chr15:73062400-73068200	Strong transcription	Fetal Muscle Leg	muscle
35	chr15:73062600-73073600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr15:73062800-73073800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:73062800-73074000	Weak transcription	Small Intestine	intestine
38	chr15:73063800-73067800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr15:73064000-73071400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:73065000-73072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr15:73065000-73073800	Weak transcription	HMEC	breast
42	chr15:73065000-73074200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr15:73065200-73073800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr15:73065400-73067800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr15:73065400-73071200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr15:73065400-73074000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr15:73065400-73074200	Weak transcription	Brain Germinal Matrix	brain
48	chr15:73065600-73073600	Weak transcription	Brain Anterior Caudate	brain
49	chr15:73065800-73073200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr15:73066000-73068200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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