Variant report

Variant	rs74031207
Chromosome Location	chr16:81620288-81620289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81619830..81622273-chr16:81749379..81751605,2	MCF-7	breast:
2	chr16:81619065..81620878-chr16:81627122..81628842,2	MCF-7	breast:
3	chr16:81477202..81480429-chr16:81614800..81620694,9	MCF-7	breast:
4	chr16:81614429..81616933-chr16:81620116..81623654,4	MCF-7	breast:
5	chr16:81612072..81615265-chr16:81618442..81622019,3	K562	blood:
6	chr16:81613714..81617708-chr16:81617863..81620538,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13331139	1.00[EUR][1000 genomes]
rs16955600	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955606	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955612	1.00[EUR][1000 genomes]
rs4243207	1.00[EUR][1000 genomes]
rs4889338	1.00[EUR][1000 genomes]
rs56360425	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56787727	1.00[EUR][1000 genomes]
rs57177093	1.00[EUR][1000 genomes]
rs60095351	1.00[EUR][1000 genomes]
rs60730964	1.00[EUR][1000 genomes]
rs60880568	1.00[EUR][1000 genomes]
rs61079357	1.00[EUR][1000 genomes]
rs61293946	1.00[EUR][1000 genomes]
rs7191922	1.00[EUR][1000 genomes]
rs7191961	1.00[EUR][1000 genomes]
rs7198651	1.00[EUR][1000 genomes]
rs73594488	1.00[EUR][1000 genomes]
rs73596424	1.00[EUR][1000 genomes]
rs73596429	1.00[EUR][1000 genomes]
rs73596439	1.00[EUR][1000 genomes]
rs73596448	1.00[EUR][1000 genomes]
rs73596482	1.00[EUR][1000 genomes]
rs73596490	1.00[EUR][1000 genomes]
rs73596500	1.00[EUR][1000 genomes]
rs73596501	1.00[EUR][1000 genomes]
rs73598433	1.00[EUR][1000 genomes]
rs73598441	1.00[EUR][1000 genomes]
rs74031208	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74031210	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8057329	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1898	chr16:81581637-81626505	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81585600-81628600	Weak transcription	GM12878-XiMat	blood
2	chr16:81588200-81640800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr16:81593200-81621000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr16:81593200-81622400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr16:81593200-81641200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr16:81599000-81633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:81608000-81623400	Weak transcription	Fetal Brain Male	brain
8	chr16:81612600-81621400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr16:81613600-81620800	Enhancers	Stomach Mucosa	stomach
10	chr16:81613600-81621200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:81615600-81620600	Genic enhancers	NHEK	skin
12	chr16:81615800-81620400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:81615800-81623800	Strong transcription	Primary B cells from cord blood	blood
14	chr16:81615800-81624800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr16:81616000-81621000	Weak transcription	Thymus	Thymus
16	chr16:81616800-81623400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:81616800-81640800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:81617000-81621400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr16:81617000-81622200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr16:81617000-81623200	Weak transcription	Brain Germinal Matrix	brain
21	chr16:81617000-81623200	Weak transcription	Right Ventricle	heart
22	chr16:81617000-81634400	Weak transcription	Ovary	ovary
23	chr16:81617400-81622000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr16:81617400-81623600	Weak transcription	Right Atrium	heart
25	chr16:81617400-81626000	Weak transcription	Spleen	Spleen
26	chr16:81617400-81634000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:81617400-81634000	Weak transcription	Fetal Lung	lung
28	chr16:81617400-81648800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr16:81617600-81620600	Weak transcription	NH-A	brain
30	chr16:81617600-81633400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr16:81617600-81634000	Weak transcription	HUVEC	blood vessel
32	chr16:81617800-81621200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:81617800-81622200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr16:81617800-81623800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr16:81617800-81625000	Weak transcription	Left Ventricle	heart
36	chr16:81617800-81626200	Weak transcription	Brain Angular Gyrus	brain
37	chr16:81618000-81625000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr16:81618000-81625000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr16:81618000-81625200	Weak transcription	Colonic Mucosa	Colon
40	chr16:81618000-81627000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr16:81618000-81630200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr16:81618200-81634000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr16:81618400-81621000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr16:81618400-81626800	Genic enhancers	A549	lung
45	chr16:81618400-81633000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr16:81618400-81633000	Weak transcription	NHDF-Ad	bronchial
47	chr16:81618600-81622000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr16:81618600-81622000	Weak transcription	Dnd41	blood
49	chr16:81618600-81623400	Weak transcription	Adipose Nuclei	Adipose
50	chr16:81618600-81623400	Weak transcription	Fetal Muscle Trunk	muscle

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