Variant report

Variant	rs74031216
Chromosome Location	chr16:81631506-81631507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81624880..81627122-chr16:81630393..81632058,2	K562	blood:
2	chr16:81621518..81623416-chr16:81629729..81631596,2	MCF-7	breast:
3	chr16:81591701..81593949-chr16:81629587..81632188,2	MCF-7	breast:
4	chr16:81629952..81632348-chr16:81634208..81635852,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73596456	1.00[AMR][1000 genomes]
rs74031209	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81588200-81640800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr16:81593200-81641200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr16:81599000-81633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:81616800-81640800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:81617000-81634400	Weak transcription	Ovary	ovary
6	chr16:81617400-81634000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:81617400-81634000	Weak transcription	Fetal Lung	lung
8	chr16:81617400-81648800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr16:81617600-81633400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr16:81617600-81634000	Weak transcription	HUVEC	blood vessel
11	chr16:81618200-81634000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr16:81618400-81633000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr16:81618400-81633000	Weak transcription	NHDF-Ad	bronchial
14	chr16:81620000-81632800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr16:81620200-81632000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr16:81620200-81632800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr16:81621000-81633000	Weak transcription	Fetal Brain Female	brain
18	chr16:81621200-81632000	Weak transcription	Hela-S3	cervix
19	chr16:81621200-81632600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:81621600-81632800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:81622200-81632600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:81622400-81641400	Weak transcription	K562	blood
23	chr16:81622600-81641200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr16:81622800-81634200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr16:81623400-81633600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:81623400-81634400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:81623400-81641200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr16:81623800-81643400	Weak transcription	Primary B cells from cord blood	blood
29	chr16:81624000-81631600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr16:81624000-81639800	Weak transcription	Dnd41	blood
31	chr16:81624000-81641000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr16:81624400-81640400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr16:81625000-81640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr16:81625200-81639800	Weak transcription	Primary T cells from cord blood	blood
35	chr16:81625400-81634400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr16:81626200-81634200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr16:81626400-81632800	Weak transcription	Spleen	Spleen
38	chr16:81626400-81633200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr16:81626400-81634000	Weak transcription	Right Ventricle	heart
40	chr16:81626400-81634400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:81626600-81632600	Weak transcription	Pancreas	Pancrea
42	chr16:81626600-81633400	Weak transcription	Colonic Mucosa	Colon
43	chr16:81626800-81633800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr16:81626800-81637800	Enhancers	Placenta	Placenta
45	chr16:81627000-81632800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr16:81627000-81633400	Weak transcription	Brain Angular Gyrus	brain
47	chr16:81627000-81635200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr16:81627200-81632600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:81627400-81632200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr16:81627400-81632200	Weak transcription	HMEC	breast

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