Variant report

Variant	rs16941635
Chromosome Location	chr17:45261955-45261956
allele	A/G
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	POLR2A	chr17:45261463-45262039	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45261453..45263452-chr17:45285830..45288227,2	K562	blood:
2	chr17:45260373..45262889-chr17:45263866..45266203,2	MCF-7	breast:
3	chr17:45230648..45232405-chr17:45259040..45262576,3	K562	blood:
4	chr17:45259720..45263817-chr17:45399412..45402337,5	K562	blood:

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000198336	Chromatin interaction
ENSG00000263293	Chromatin interaction
ENSG00000178852	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11079757	0.85[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs11570481	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11570495	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11570513	0.89[ASN][1000 genomes]
rs11570548	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11570565	0.84[ASN][1000 genomes]
rs11570579	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16941626	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16941628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16941671	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1986817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55706273	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55887846	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56287938	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59349147	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs717162	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3584	chr17:45246216-45265642	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv6873	chr17:45247370-45266575	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3438623	chr17:45249255-45266618	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv8330	chr17:45249307-45266621	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3374428	chr17:45249343-45266580	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3373405	chr17:45258905-45266622	Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3414401	chr17:45258915-45266609	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3522393	chr17:45258921-45266590	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3522394	chr17:45258921-45266590	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3392762	chr17:45258946-45266562	Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv3314731	chr17:45258949-45266545	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3314732	chr17:45258949-45266545	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv3397910	chr17:45258965-45266531	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv4785	chr17:45258973-45266557	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	esv4323	chr17:45258973-45266558	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	esv3416394	chr17:45259161-45266566	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16941635	MYL4	cis	Esophagus Muscularis	GTEx
rs16941635	RPRML	cis	Adipose Subcutaneous	GTEx
rs16941635	MYL4	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45253200-45265200	Weak transcription	Brain Germinal Matrix	brain
2	chr17:45255200-45263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:45257000-45265600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:45259000-45265600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr17:45259200-45262000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr17:45259200-45262000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr17:45259200-45262000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr17:45259200-45262000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr17:45259200-45262000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr17:45259200-45262000	Weak transcription	Primary T cells from cord blood	blood
11	chr17:45259200-45262000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:45259200-45262000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr17:45259200-45262000	Weak transcription	Adipose Nuclei	Adipose
14	chr17:45259200-45262000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr17:45259200-45262000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr17:45259200-45262000	Weak transcription	Fetal Lung	lung
17	chr17:45259200-45262000	Weak transcription	Fetal Muscle Leg	muscle
18	chr17:45259200-45262000	Weak transcription	Ovary	ovary
19	chr17:45259200-45262000	Weak transcription	Pancreas	Pancrea
20	chr17:45259200-45262000	Weak transcription	Psoas Muscle	Psoas
21	chr17:45259200-45262000	Weak transcription	Right Atrium	heart
22	chr17:45259200-45262000	Weak transcription	Right Ventricle	heart
23	chr17:45259200-45262000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr17:45259200-45262000	Weak transcription	NHLF	lung
25	chr17:45259200-45262800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr17:45259200-45263000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr17:45259200-45263000	Weak transcription	Fetal Stomach	stomach
28	chr17:45259200-45263200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr17:45259200-45263200	Weak transcription	Liver	Liver
30	chr17:45259200-45263200	Weak transcription	Brain Hippocampus Middle	brain
31	chr17:45259200-45263200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr17:45259200-45263200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr17:45259200-45263200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr17:45259200-45263200	Weak transcription	Hela-S3	cervix
35	chr17:45259200-45263400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr17:45259200-45263400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr17:45259200-45263600	Weak transcription	Osteobl	bone
38	chr17:45259200-45264000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr17:45259200-45264200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr17:45259200-45264200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr17:45259200-45264200	Weak transcription	Primary B cells from cord blood	blood
42	chr17:45259200-45264400	Weak transcription	Fetal Intestine Small	intestine
43	chr17:45259200-45264600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr17:45259200-45264600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:45259200-45264600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr17:45259200-45264600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr17:45259200-45264800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:45259200-45264800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr17:45259200-45264800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr17:45259200-45264800	Weak transcription	NHEK	skin

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