Variant report

Variant	rs73308962
Chromosome Location	chr17:45175134-45175135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11079751	0.91[ASN][1000 genomes]
rs11649831	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11650241	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11654437	0.82[ASN][1000 genomes]
rs12452715	0.91[ASN][1000 genomes]
rs16941569	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2678713	0.90[ASN][1000 genomes]
rs28376067	0.82[ASN][1000 genomes]
rs2907245	0.80[ASN][1000 genomes]
rs2959964	0.82[ASN][1000 genomes]
rs35936425	0.95[ASN][1000 genomes]
rs56023235	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56200895	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57418075	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833466	chr17:45020360-45204537	Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv522797	chr17:45084279-45183152	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv3332795	chr17:45116212-45209297	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3386521	chr17:45116232-45209267	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers 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	13 gene(s)	inside rSNPs	diseases
7	esv21010	chr17:45125753-45177221	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1059766	chr17:45130765-45203468	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	esv2760450	chr17:45130777-45225222	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription 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 target site	13 gene(s)	inside rSNPs	diseases
10	nsv521632	chr17:45151549-45196190	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv908563	chr17:45158537-45230311	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv962456	chr17:45163689-45212872	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS 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	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73308962	MYL4	cis	lung	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45145000-45176400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:45145000-45176600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr17:45145000-45176800	Weak transcription	Lung	lung
4	chr17:45145200-45176600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr17:45145400-45176000	Weak transcription	Primary T cells from cord blood	blood
6	chr17:45148800-45175400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr17:45149600-45175400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr17:45149600-45176800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:45150600-45176400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:45150600-45176800	Weak transcription	Left Ventricle	heart
11	chr17:45159200-45175600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr17:45163200-45176800	Weak transcription	Fetal Intestine Large	intestine
13	chr17:45164800-45176600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr17:45166200-45176400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:45167600-45177000	Weak transcription	Spleen	Spleen
16	chr17:45168400-45176000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr17:45168400-45176800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr17:45168600-45176200	Weak transcription	NH-A	brain
19	chr17:45168800-45176800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr17:45169200-45176200	Weak transcription	Adipose Nuclei	Adipose
21	chr17:45170200-45176800	Weak transcription	Aorta	Aorta
22	chr17:45170400-45176000	Weak transcription	Ovary	ovary
23	chr17:45170400-45176200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:45170400-45176200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr17:45170600-45176400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr17:45170600-45176600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr17:45170800-45176200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr17:45170800-45176200	Weak transcription	A549	lung
29	chr17:45171000-45175600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:45171000-45176000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr17:45171000-45176000	Weak transcription	NHEK	skin
32	chr17:45171000-45176200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr17:45171000-45176200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr17:45171000-45176200	Weak transcription	Brain Hippocampus Middle	brain
35	chr17:45171000-45176200	Weak transcription	Fetal Brain Female	brain
36	chr17:45171000-45176200	Weak transcription	Fetal Intestine Small	intestine
37	chr17:45171000-45176200	Weak transcription	Fetal Muscle Leg	muscle
38	chr17:45171000-45176200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr17:45171000-45176400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr17:45171000-45176400	Weak transcription	Fetal Thymus	thymus
41	chr17:45171000-45176600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:45171000-45176800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr17:45171000-45176800	Weak transcription	Fetal Lung	lung
44	chr17:45171000-45176800	Weak transcription	Psoas Muscle	Psoas
45	chr17:45171200-45176200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr17:45171200-45176200	Weak transcription	Brain Angular Gyrus	brain
47	chr17:45171200-45176600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr17:45171400-45176800	Weak transcription	HSMM	muscle
49	chr17:45171600-45175600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr17:45172000-45175400	Weak transcription	Colon Smooth Muscle	Colon

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