Variant report

Variant	rs73562067
Chromosome Location	chr16:48407344-48407345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:48404265..48407102-chr16:48407318..48409979,3	K562	blood:
2	chr16:48398867..48402806-chr16:48404522..48408280,4	MCF-7	breast:
3	chr16:48393963..48396580-chr16:48406988..48408957,2	K562	blood:
4	chr16:48406174..48409195-chr16:48411058..48414705,6	K562	blood:
5	chr16:48406348..48408797-chr16:48412397..48415717,4	MCF-7	breast:
6	chr16:48407326..48411572-chr16:48416676..48420468,6	MCF-7	breast:
7	chr16:48407075..48409402-chr16:48409730..48412041,2	MCF-7	breast:
8	chr16:48394386..48397097-chr16:48404388..48407355,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196470	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs35374298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57503116	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57833761	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57937994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60654623	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60747434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60778835	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7192772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550078	1.00[AMR][1000 genomes]
rs73550084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550090	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550093	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550096	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550097	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550099	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551446	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551462	1.00[AMR][1000 genomes]
rs73551474	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551482	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73552007	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73555664	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562026	1.00[AMR][1000 genomes]
rs73562044	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562076	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048632	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053521	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056984	0.97[AFR][1000 genomes];1.00[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	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2758424	chr16:48329437-48479754	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv2758645	chr16:48329437-48479754	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	esv1837150	chr16:48375777-48470715	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	esv1802902	chr16:48394626-48419662	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv1836876	chr16:48395527-48459558	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	esv1842331	chr16:48395527-48459558	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48400200-48409000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:48400600-48417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:48400800-48417800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:48401000-48407400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr16:48401000-48412600	Weak transcription	Thymus	Thymus
6	chr16:48401200-48409000	Weak transcription	Gastric	stomach
7	chr16:48401400-48407400	Weak transcription	Aorta	Aorta
8	chr16:48401400-48408400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr16:48401400-48408400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr16:48401600-48407400	Weak transcription	HSMM	muscle
11	chr16:48401600-48407600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:48401600-48407800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr16:48401600-48412400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr16:48401800-48407400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr16:48401800-48407400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr16:48401800-48407400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:48401800-48407600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr16:48401800-48408000	Weak transcription	Stomach Mucosa	stomach
19	chr16:48401800-48408600	Weak transcription	Primary T cells from cord blood	blood
20	chr16:48401800-48408800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr16:48401800-48410000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr16:48402000-48407400	Weak transcription	K562	blood
23	chr16:48402000-48407400	Weak transcription	NHDF-Ad	bronchial
24	chr16:48402000-48407400	Weak transcription	NHLF	lung
25	chr16:48402000-48407600	Weak transcription	HepG2	liver
26	chr16:48402000-48407800	Weak transcription	Fetal Stomach	stomach
27	chr16:48402200-48407400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr16:48402200-48412600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:48402400-48408800	Weak transcription	GM12878-XiMat	blood
30	chr16:48402800-48410000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr16:48403200-48415000	Enhancers	Adipose Nuclei	Adipose
32	chr16:48404400-48407400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr16:48404400-48407400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr16:48404400-48407800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr16:48404400-48408400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr16:48404800-48411200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:48404800-48411600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr16:48404800-48417200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr16:48405000-48409200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:48405000-48409400	Enhancers	Fetal Lung	lung
41	chr16:48405000-48410000	Enhancers	Fetal Heart	heart
42	chr16:48405200-48407400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:48405200-48407400	Weak transcription	Spleen	Spleen
44	chr16:48405200-48408800	Weak transcription	Pancreas	Pancrea
45	chr16:48405200-48409200	Enhancers	Osteobl	bone
46	chr16:48405200-48411400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr16:48405200-48412000	Weak transcription	Lung	lung
48	chr16:48405600-48408000	Enhancers	Fetal Brain Female	brain
49	chr16:48405600-48408200	Enhancers	Fetal Brain Male	brain
50	chr16:48405600-48409800	Enhancers	Brain Substantia Nigra	brain

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