Variant report

Variant	rs16876291
Chromosome Location	chr6:15363384-15363385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15274783..15276442-chr6:15362069..15364888,2	K562	blood:
2	chr6:15356510..15359916-chr6:15362277..15365579,4	MCF-7	breast:
3	chr6:15353198..15356470-chr6:15362238..15364808,3	MCF-7	breast:
4	chr6:15362599..15365253-chr6:15377982..15380126,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13193457	1.00[GIH][hapmap];0.87[JPT][hapmap];0.89[LWK][hapmap];0.80[AMR][1000 genomes]
rs2299047	0.93[JPT][hapmap]
rs2299049	0.93[JPT][hapmap]
rs34960211	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs35192506	0.80[AMR][1000 genomes]
rs35870623	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6935676	0.81[JPT][hapmap]
rs7753636	0.87[JPT][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv538144	chr6:15310696-15364984	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1019927	chr6:15351240-15419257	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv538145	chr6:15351240-15419257	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16876291	TMPRSS3	trans	lymphoblastoid	seeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15327800-15375800	Weak transcription	Aorta	Aorta
2	chr6:15341400-15365400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:15341800-15378400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:15342800-15364600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:15352000-15364400	Weak transcription	Esophagus	oesophagus
6	chr6:15352000-15370000	Weak transcription	Lung	lung
7	chr6:15352800-15365600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:15353200-15365400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:15353400-15363600	Weak transcription	Thymus	Thymus
10	chr6:15353400-15364400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:15353400-15365400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:15353600-15365400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:15353800-15365400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:15354600-15364400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:15354600-15365400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:15355000-15364400	Weak transcription	Brain Angular Gyrus	brain
17	chr6:15355000-15365400	Weak transcription	HMEC	breast
18	chr6:15356200-15363800	Weak transcription	Spleen	Spleen
19	chr6:15356400-15365600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:15356600-15364200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:15356800-15367000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:15358000-15365800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:15358200-15363600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:15358600-15367400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:15359000-15365800	Enhancers	Psoas Muscle	Psoas
26	chr6:15359400-15364400	Weak transcription	Brain Anterior Caudate	brain
27	chr6:15359600-15364400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:15359600-15365400	Weak transcription	Fetal Kidney	kidney
29	chr6:15359800-15363400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr6:15359800-15364400	Weak transcription	NHLF	lung
31	chr6:15359800-15365000	Weak transcription	NH-A	brain
32	chr6:15360000-15363600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:15360000-15364600	Weak transcription	HSMMtube	muscle
34	chr6:15360200-15363400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:15360200-15363400	Weak transcription	Fetal Thymus	thymus
36	chr6:15360200-15363400	Weak transcription	Left Ventricle	heart
37	chr6:15360200-15364200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:15360200-15364400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:15360200-15364400	Weak transcription	Fetal Stomach	stomach
40	chr6:15360200-15364400	Weak transcription	Right Ventricle	heart
41	chr6:15360400-15372400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr6:15360600-15365400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr6:15360600-15365400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr6:15360600-15367000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr6:15360600-15371400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:15360800-15365400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:15360800-15365400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr6:15361200-15364400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:15361200-15368400	Enhancers	K562	blood
50	chr6:15361200-15370000	Enhancers	Primary neutrophils fromperipheralblood	blood

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