Variant report

Variant	rs73575026
Chromosome Location	chr16:70692563-70692564
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70692420-70692633	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:70692464-70692637	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:70692369..70694552-chr16:70717140..70720083,2	K562	blood:
2	chr16:70688760..70693483-chr16:70698297..70703877,5	K562	blood:
3	chr16:70691222..70695511-chr16:70695866..70699459,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268927	TF binding region
ENSG00000132613	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11075774	1.00[AMR][1000 genomes]
rs12102523	0.91[AMR][1000 genomes]
rs12102525	1.00[AMR][1000 genomes]
rs12325225	1.00[EUR][1000 genomes]
rs13335470	1.00[AMR][1000 genomes]
rs13336968	0.91[AMR][1000 genomes]
rs13338169	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1902563	1.00[AMR][1000 genomes]
rs28613466	1.00[EUR][1000 genomes]
rs28780486	1.00[AMR][1000 genomes]
rs28814369	0.91[AMR][1000 genomes]
rs28868985	0.83[AMR][1000 genomes]
rs56990872	1.00[EUR][1000 genomes]
rs59710171	1.00[AMR][1000 genomes]
rs60020150	1.00[AMR][1000 genomes]
rs60337219	1.00[AMR][1000 genomes]
rs60611474	0.91[AMR][1000 genomes]
rs60774382	1.00[AMR][1000 genomes]
rs7186416	0.83[AMR][1000 genomes]
rs73573189	1.00[EUR][1000 genomes]
rs8045340	1.00[EUR][1000 genomes]
rs8056766	0.91[AMR][1000 genomes]
rs8057766	1.00[EUR][1000 genomes]
rs8061423	0.83[AMR][1000 genomes]
rs8063038	1.00[AMR][1000 genomes]
rs8064220	1.00[AMR][1000 genomes]
rs9938385	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906874	chr16:70677785-70740707	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906875	chr16:70677785-70742536	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
8	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS 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	19 gene(s)	inside rSNPs	diseases
10	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv906881	chr16:70688073-70700214	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active 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	11 gene(s)	inside rSNPs	diseases
12	nsv906882	chr16:70690989-70725815	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70683600-70697200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:70683600-70698600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:70684200-70697400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:70685600-70693600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:70688200-70694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr16:70688200-70695000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:70688200-70695400	Weak transcription	Brain Germinal Matrix	brain
8	chr16:70688200-70695400	Weak transcription	Thymus	Thymus
9	chr16:70688200-70695600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr16:70688200-70695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:70688200-70696000	Strong transcription	Fetal Intestine Small	intestine
12	chr16:70688200-70696200	Weak transcription	Brain Hippocampus Middle	brain
13	chr16:70688200-70696400	Weak transcription	Brain Anterior Caudate	brain
14	chr16:70688200-70697200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr16:70688200-70698000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr16:70688200-70700400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr16:70688200-70701400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr16:70688200-70704800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr16:70688400-70693600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:70688400-70695000	Weak transcription	Fetal Heart	heart
21	chr16:70688400-70695000	Weak transcription	Ovary	ovary
22	chr16:70688400-70695400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr16:70688400-70695400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr16:70688400-70695600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr16:70688400-70695600	Weak transcription	Placenta	Placenta
26	chr16:70688400-70695800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr16:70688400-70695800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr16:70688400-70696000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr16:70688400-70696000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr16:70688400-70696000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr16:70688400-70696000	Weak transcription	Osteobl	bone
32	chr16:70688400-70696200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr16:70688400-70696600	Weak transcription	Fetal Lung	lung
34	chr16:70688400-70697200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr16:70688400-70697200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr16:70688400-70697200	Weak transcription	Adipose Nuclei	Adipose
37	chr16:70688400-70697200	Weak transcription	Brain Substantia Nigra	brain
38	chr16:70688400-70697200	Weak transcription	Colonic Mucosa	Colon
39	chr16:70688400-70697200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr16:70688400-70697200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr16:70688400-70697400	Weak transcription	Dnd41	blood
42	chr16:70688400-70697800	Weak transcription	Brain Angular Gyrus	brain
43	chr16:70688400-70699000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr16:70688400-70700400	Weak transcription	HUVEC	blood vessel
45	chr16:70688400-70701800	Weak transcription	Right Atrium	heart
46	chr16:70688400-70702400	Weak transcription	Psoas Muscle	Psoas
47	chr16:70688400-70715000	Weak transcription	Stomach Mucosa	stomach
48	chr16:70688600-70694200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr16:70688600-70694400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr16:70688600-70695400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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