Variant report

Variant	rs532591903
Chromosome Location	chr16:70688717-70688718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70611435..70614345-chr16:70688186..70690575,2	K562	blood:
2	chr16:70414237..70416453-chr16:70688010..70689674,2	MCF-7	breast:
3	chr16:70688085..70692168-chr16:70718317..70721459,4	MCF-7	breast:
4	chr16:70380612..70382422-chr16:70687697..70689426,2	MCF-7	breast:
5	chr16:70679648..70683567-chr16:70688197..70691172,3	K562	blood:
6	chr16:70555993..70558227-chr16:70687892..70690787,2	K562	blood:

Variant related genes	Relation type
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000132613	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000157368	Chromatin interaction
ENSG00000168872	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:88 , 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	chr16:70688200-70688800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:70688200-70690000	Weak transcription	Fetal Intestine Large	intestine
7	chr16:70688200-70690800	Weak transcription	Lung	lung
8	chr16:70688200-70694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr16:70688200-70695000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:70688200-70695400	Weak transcription	Brain Germinal Matrix	brain
11	chr16:70688200-70695400	Weak transcription	Thymus	Thymus
12	chr16:70688200-70695600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:70688200-70695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:70688200-70696000	Strong transcription	Fetal Intestine Small	intestine
15	chr16:70688200-70696200	Weak transcription	Brain Hippocampus Middle	brain
16	chr16:70688200-70696400	Weak transcription	Brain Anterior Caudate	brain
17	chr16:70688200-70697200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr16:70688200-70698000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr16:70688200-70700400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr16:70688200-70701400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr16:70688200-70704800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr16:70688400-70688800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr16:70688400-70688800	Strong transcription	Spleen	Spleen
24	chr16:70688400-70690800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:70688400-70693600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr16:70688400-70695000	Weak transcription	Fetal Heart	heart
27	chr16:70688400-70695000	Weak transcription	Ovary	ovary
28	chr16:70688400-70695400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr16:70688400-70695400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr16:70688400-70695600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr16:70688400-70695600	Weak transcription	Placenta	Placenta
32	chr16:70688400-70695800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr16:70688400-70695800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr16:70688400-70696000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:70688400-70696000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr16:70688400-70696000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr16:70688400-70696000	Weak transcription	Osteobl	bone
38	chr16:70688400-70696200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr16:70688400-70696600	Weak transcription	Fetal Lung	lung
40	chr16:70688400-70697200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:70688400-70697200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr16:70688400-70697200	Weak transcription	Adipose Nuclei	Adipose
43	chr16:70688400-70697200	Weak transcription	Brain Substantia Nigra	brain
44	chr16:70688400-70697200	Weak transcription	Colonic Mucosa	Colon
45	chr16:70688400-70697200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr16:70688400-70697200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr16:70688400-70697400	Weak transcription	Dnd41	blood
48	chr16:70688400-70697800	Weak transcription	Brain Angular Gyrus	brain
49	chr16:70688400-70699000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr16:70688400-70700400	Weak transcription	HUVEC	blood vessel

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