Variant report

Variant	rs73596497
Chromosome Location	chr16:81612559-81612560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81612072..81615265-chr16:81618442..81622019,3	K562	blood:
2	chr16:81608171..81610692-chr16:81611285..81613307,2	K562	blood:
3	chr16:81612341..81613994-chr16:81615649..81617151,2	K562	blood:
4	chr16:81478376..81479918-chr16:81612129..81613848,2	MCF-7	breast:
5	chr16:81611373..81612996-chr16:81613349..81614898,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11642655	0.80[AFR][1000 genomes]
rs13330330	0.93[EUR][1000 genomes]
rs13332592	0.93[EUR][1000 genomes]
rs13332707	0.81[EUR][1000 genomes]
rs13338112	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs16955583	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16955585	0.93[EUR][1000 genomes]
rs16955597	0.93[EUR][1000 genomes]
rs28550435	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28619178	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56310895	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60525419	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6564895	0.93[EUR][1000 genomes]
rs7205559	0.85[EUR][1000 genomes]
rs73596473	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73596491	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73596494	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73596498	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73598408	0.93[EUR][1000 genomes]
rs73598410	0.93[EUR][1000 genomes]
rs73598418	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74029200	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74029201	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74029202	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74031205	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74031217	0.93[EUR][1000 genomes]
rs9924458	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9924761	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9926699	0.93[EUR][1000 genomes]
rs9929965	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9932038	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9933726	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9934970	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9938967	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9939220	0.88[AMR][1000 genomes];0.93[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:78 , 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	chr16:81593200-81619400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:81593200-81621000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:81593200-81622400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:81593200-81641200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr16:81593400-81619200	Weak transcription	K562	blood
8	chr16:81599000-81633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:81599200-81614600	Weak transcription	Fetal Kidney	kidney
10	chr16:81600400-81616200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr16:81601000-81616200	Weak transcription	Primary T cells from cord blood	blood
12	chr16:81602000-81615600	Weak transcription	Thymus	Thymus
13	chr16:81602200-81615000	Weak transcription	Small Intestine	intestine
14	chr16:81602200-81616000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:81602200-81617800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr16:81602600-81615400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:81602600-81616000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:81602600-81616400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr16:81602600-81619200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr16:81602800-81616000	Weak transcription	HSMM	muscle
21	chr16:81603200-81617200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr16:81603400-81616600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:81604000-81616200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr16:81604200-81616200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:81604200-81619200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr16:81604400-81613600	Weak transcription	NHEK	skin
27	chr16:81604400-81616400	Weak transcription	Left Ventricle	heart
28	chr16:81604600-81613600	Weak transcription	HMEC	breast
29	chr16:81604600-81616600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr16:81606200-81616000	Weak transcription	Fetal Muscle Leg	muscle
31	chr16:81606200-81616400	Weak transcription	Fetal Lung	lung
32	chr16:81606400-81615800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr16:81606400-81616000	Weak transcription	Fetal Stomach	stomach
34	chr16:81606400-81616200	Weak transcription	Ovary	ovary
35	chr16:81606600-81612800	Weak transcription	Colonic Mucosa	Colon
36	chr16:81606600-81615800	Weak transcription	Fetal Thymus	thymus
37	chr16:81606600-81618000	Weak transcription	Dnd41	blood
38	chr16:81606600-81619200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:81606800-81616200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr16:81608000-81614800	Weak transcription	Lung	lung
41	chr16:81608000-81615800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr16:81608000-81623400	Weak transcription	Fetal Brain Male	brain
43	chr16:81608200-81614400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr16:81608400-81616200	Weak transcription	Adipose Nuclei	Adipose
45	chr16:81608600-81614800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr16:81608600-81616000	Weak transcription	Brain Anterior Caudate	brain
47	chr16:81608600-81616000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr16:81608600-81616200	Weak transcription	Right Atrium	heart
49	chr16:81608800-81613600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr16:81608800-81614200	Weak transcription	Liver	Liver

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