Variant report

Variant	rs73591403
Chromosome Location	chr16:82172444-82172445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82169937..82172835-chr16:82201832..82204154,3	MCF-7	breast:
2	chr16:82170854..82172760-chr16:82203881..82205592,2	K562	blood:

Variant related genes	Relation type
ENSG00000135698	Chromatin interaction
ENSG00000261029	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs13337888	1.00[EUR][1000 genomes]
rs16944454	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16956466	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16956540	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16956562	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28637993	1.00[EUR][1000 genomes]
rs57109607	1.00[EUR][1000 genomes]
rs58555653	1.00[EUR][1000 genomes]
rs58852226	1.00[EUR][1000 genomes]
rs59651447	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59902565	1.00[EUR][1000 genomes]
rs60263276	1.00[EUR][1000 genomes]
rs6564969	1.00[EUR][1000 genomes]
rs6564970	1.00[EUR][1000 genomes]
rs6564986	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6564988	0.81[AFR][1000 genomes]
rs7184881	0.87[AFR][1000 genomes]
rs7186070	0.87[AFR][1000 genomes]
rs7186267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187457	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7188170	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7191392	0.87[AFR][1000 genomes]
rs7191907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7193358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195032	0.81[AFR][1000 genomes]
rs7195527	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7202424	0.82[AFR][1000 genomes]
rs73589621	1.00[EUR][1000 genomes]
rs73589633	1.00[EUR][1000 genomes]
rs73589649	1.00[EUR][1000 genomes]
rs73589675	1.00[EUR][1000 genomes]
rs73589681	1.00[EUR][1000 genomes]
rs73589694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589701	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591406	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591410	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591415	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591419	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591424	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591450	0.87[AFR][1000 genomes]
rs73591453	0.87[AFR][1000 genomes]
rs73591454	0.87[AFR][1000 genomes]
rs73591486	0.81[AFR][1000 genomes]
rs73591491	0.80[AFR][1000 genomes]
rs73604956	1.00[EUR][1000 genomes]
rs8048876	1.00[EUR][1000 genomes]
rs8049032	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8056380	0.88[AFR][1000 genomes]
rs8057418	0.88[AFR][1000 genomes]
rs9929702	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv457578	chr16:82136566-82197883	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv573366	chr16:82136566-82197883	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv457579	chr16:82150293-82216622	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv573368	chr16:82150293-82216622	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv907013	chr16:82154619-82196808	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv525467	chr16:82154619-82223485	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers 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	13 gene(s)	inside rSNPs	diseases
10	nsv457580	chr16:82165183-82182104	Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv573369	chr16:82165183-82182104	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv573370	chr16:82165183-82185320	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1061064	chr16:82165314-82213799	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv1056381	chr16:82165314-82215388	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1062687	chr16:82165516-82213799	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82157000-82191200	Weak transcription	Fetal Brain Male	brain
2	chr16:82164200-82179400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr16:82165800-82179200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:82166600-82172800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:82167200-82179200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:82167400-82179400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr16:82167600-82180600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:82167800-82180200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr16:82168000-82181000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr16:82168000-82195400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr16:82168400-82180800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr16:82168400-82195600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr16:82168600-82179200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr16:82168600-82180400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr16:82168600-82191000	Weak transcription	HSMMtube	muscle
16	chr16:82168600-82195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr16:82168800-82180600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr16:82168800-82180600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr16:82168800-82180800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr16:82168800-82182000	Weak transcription	NH-A	brain
21	chr16:82169000-82179200	Weak transcription	Brain Angular Gyrus	brain
22	chr16:82169000-82179400	Weak transcription	Fetal Brain Female	brain
23	chr16:82169000-82180000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:82169000-82180200	Weak transcription	Primary B cells from cord blood	blood
25	chr16:82169200-82172600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr16:82169200-82179200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr16:82169200-82180600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr16:82169400-82179200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr16:82169400-82180000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr16:82169600-82179400	Weak transcription	HMEC	breast
31	chr16:82169800-82172600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr16:82169800-82179400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:82170000-82180800	Weak transcription	Fetal Lung	lung
34	chr16:82170200-82172600	Strong transcription	Brain Anterior Caudate	brain
35	chr16:82170200-82173200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr16:82170200-82180400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr16:82170400-82172800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:82170400-82173000	Enhancers	K562	blood
39	chr16:82170400-82179600	Weak transcription	Brain Germinal Matrix	brain
40	chr16:82170600-82180400	Weak transcription	A549	lung
41	chr16:82170800-82172600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr16:82170800-82172600	Strong transcription	HSMM	muscle
43	chr16:82170800-82179200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:82170800-82180600	Weak transcription	Left Ventricle	heart
45	chr16:82170800-82180600	Weak transcription	Lung	lung
46	chr16:82170800-82195800	Weak transcription	Colon Smooth Muscle	Colon
47	chr16:82171000-82172600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr16:82171000-82179400	Weak transcription	Aorta	Aorta
49	chr16:82171000-82180400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr16:82171000-82180400	Weak transcription	Monocytes-CD14+_RO01746	blood

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