Variant report

Variant	rs59984573
Chromosome Location	chr16:70710858-70710859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70693638..70695882-chr16:70710184..70712237,2	K562	blood:
2	chr16:70710502..70716221-chr16:70726302..70731102,7	K562	blood:
3	chr16:70709373..70712593-chr16:70717107..70721470,4	MCF-7	breast:
4	chr16:70702333..70704559-chr16:70708648..70711646,3	MCF-7	breast:
5	chr16:70707189..70711202-chr16:70725097..70729539,5	MCF-7	breast:
6	chr16:70704478..70706991-chr16:70709416..70711257,2	K562	blood:
7	chr16:70709708..70712098-chr16:70712112..70715269,4	K562	blood:

Variant related genes	Relation type
ENSG00000132613	Chromatin interaction
ENSG00000268927	Chromatin interaction
ENSG00000103043	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10153136	0.87[ASN][1000 genomes]
rs16970437	0.87[ASN][1000 genomes]
rs2124832	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3785425	0.87[ASN][1000 genomes]
rs4985561	0.87[ASN][1000 genomes]
rs59812853	0.85[ASN][1000 genomes]
rs9673512	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
12	nsv572946	chr16:70694000-70740707	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv471094	chr16:70694000-70749970	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv906884	chr16:70696009-70725815	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv906885	chr16:70696367-70742536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70688400-70715000	Weak transcription	Stomach Mucosa	stomach
2	chr16:70694600-70720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:70695600-70712600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr16:70695600-70714200	Strong transcription	Placenta	Placenta
5	chr16:70695600-70714400	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr16:70695600-70714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:70695600-70714400	Strong transcription	Lung	lung
8	chr16:70695600-70714600	Strong transcription	Liver	Liver
9	chr16:70695800-70713800	Strong transcription	Fetal Intestine Large	intestine
10	chr16:70695800-70714200	Strong transcription	NHDF-Ad	bronchial
11	chr16:70696000-70714200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr16:70696000-70714200	Strong transcription	Fetal Thymus	thymus
13	chr16:70696400-70713400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:70696400-70714200	Strong transcription	Fetal Intestine Small	intestine
15	chr16:70696600-70713400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr16:70696600-70714200	Strong transcription	Fetal Lung	lung
17	chr16:70696800-70713600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:70696800-70714200	Strong transcription	Osteobl	bone
19	chr16:70697200-70713400	Strong transcription	Adipose Nuclei	Adipose
20	chr16:70697400-70713400	Strong transcription	A549	lung
21	chr16:70697600-70713000	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr16:70697600-70713600	Strong transcription	Fetal Stomach	stomach
23	chr16:70697600-70713600	Strong transcription	Ovary	ovary
24	chr16:70697600-70713800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:70697600-70714200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:70698000-70712200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr16:70698000-70713200	Strong transcription	HSMMtube	muscle
28	chr16:70698000-70714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:70698800-70711600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr16:70698800-70713400	Strong transcription	NHLF	lung
31	chr16:70699200-70711200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr16:70699600-70713400	Strong transcription	HSMM	muscle
33	chr16:70700400-70711000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr16:70700400-70718800	Weak transcription	Small Intestine	intestine
35	chr16:70700600-70711400	Weak transcription	Colonic Mucosa	Colon
36	chr16:70701000-70714200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr16:70702200-70712800	Strong transcription	Pancreatic Islets	Pancreatic Islet
38	chr16:70703000-70712800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:70703000-70713200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr16:70703000-70713600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr16:70703000-70715200	Strong transcription	Thymus	Thymus
42	chr16:70703000-70717800	Weak transcription	Hela-S3	cervix
43	chr16:70703200-70714400	Strong transcription	Brain Germinal Matrix	brain
44	chr16:70703200-70714400	Strong transcription	Fetal Brain Female	brain
45	chr16:70703400-70713800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr16:70703400-70714400	Strong transcription	HepG2	liver
47	chr16:70703800-70714600	Strong transcription	Dnd41	blood
48	chr16:70704600-70712600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr16:70704600-70714200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr16:70704600-70715400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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