Variant report

Variant	rs17753687
Chromosome Location	chr15:72980550-72980551
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr15:72980240-72980831	K562	blood:	n/a	n/a
2	POLR2A	chr15:72979332-72980565	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72978938..72981317-chr15:73074560..73077463,3	K562	blood:
2	chr15:72978441..72980065-chr15:72980093..72981792,3	K562	blood:
3	chr15:72971779..72975423-chr15:72976170..72980827,7	K562	blood:
4	chr15:72979618..72981148-chr15:72991969..72994170,2	MCF-7	breast:
5	chr15:72973101..72975344-chr15:72976692..72980792,4	MCF-7	breast:
6	chr15:72978938..72981317-chr15:73074560..73077463,2	K562	blood:
7	chr15:72980424..72982854-chr15:72989051..72991361,2	MCF-7	breast:
8	chr15:72978470..72980550-chr15:73014196..73015991,2	K562	blood:

No data

Variant related genes	Relation type
HIGD2B	TF binding region
ENSG00000175202	Chromatin interaction
ENSG00000261281	Chromatin interaction
ENSG00000159322	Chromatin interaction
ENSG00000260898	Chromatin interaction
ENSG00000140463	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12594844	0.88[CEU][hapmap]
rs16957293	0.88[CEU][hapmap]
rs2278543	0.88[CEU][hapmap]
rs3759870	0.88[CEU][hapmap]
rs4776611	0.87[CEU][hapmap]
rs4777528	0.88[CEU][hapmap]
rs4777529	0.88[CEU][hapmap]
rs62017624	1.00[AFR][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	esv3430383	chr15:72821093-73035167	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17753687	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72979200-72984200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:72979200-73023600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:72979200-73023600	Weak transcription	Lung	lung
4	chr15:72979400-72983400	Weak transcription	GM12878-XiMat	blood
5	chr15:72979400-72984800	Weak transcription	Fetal Lung	lung
6	chr15:72979400-72986200	Weak transcription	Fetal Heart	heart
7	chr15:72979400-73002000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr15:72979400-73002000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr15:72979400-73004400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:72979400-73006000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr15:72979400-73027200	Weak transcription	Aorta	Aorta
12	chr15:72979600-72986800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr15:72979600-72988000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr15:72979600-72998800	Weak transcription	NH-A	brain
15	chr15:72979600-73002200	Weak transcription	Ovary	ovary
16	chr15:72979600-73004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:72979600-73004200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:72979600-73004600	Weak transcription	Primary B cells from cord blood	blood
19	chr15:72979600-73004600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr15:72979600-73023200	Weak transcription	Fetal Kidney	kidney
21	chr15:72979600-73026800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:72979800-72984200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:72979800-72984800	Weak transcription	Fetal Intestine Small	intestine
24	chr15:72979800-72989600	Weak transcription	Fetal Brain Female	brain
25	chr15:72979800-72998600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:72979800-73002000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr15:72979800-73004000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:72979800-73004400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:72979800-73007200	Weak transcription	Left Ventricle	heart
30	chr15:72979800-73027400	Weak transcription	Hela-S3	cervix
31	chr15:72980000-73002200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:72980000-73002200	Weak transcription	Fetal Stomach	stomach
33	chr15:72980000-73004000	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:72980200-72988800	Weak transcription	A549	lung
35	chr15:72980200-72996200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:72980200-72998600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:72980200-73004200	Weak transcription	Liver	Liver
38	chr15:72980200-73008000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr15:72980400-72980600	Enhancers	K562	blood
40	chr15:72980400-72980800	Weak transcription	Pancreas	Pancrea

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