Variant report

Variant	rs2085546
Chromosome Location	chr16:81558667-81558668
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81540223..81542527-chr16:81557880..81560603,2	K562	blood:
2	chr16:81557086..81559213-chr16:81591248..81592791,2	MCF-7	breast:
3	chr16:81480285..81482687-chr16:81557234..81559498,2	K562	blood:
4	chr16:81556103..81559286-chr16:81561998..81564976,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13333159	0.90[ASN][1000 genomes]
rs28495808	0.92[ASN][1000 genomes]
rs2925980	0.88[ASN][1000 genomes]
rs2925983	0.89[ASN][1000 genomes]
rs2927318	0.88[ASN][1000 genomes]
rs4889332	0.80[ASN][1000 genomes]
rs881213	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv457576	chr16:81525637-81579433	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
7	nsv573360	chr16:81525637-81579433	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81547400-81571600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr16:81547600-81560000	Weak transcription	Colon Smooth Muscle	Colon
3	chr16:81547600-81564400	Weak transcription	Fetal Kidney	kidney
4	chr16:81547800-81571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr16:81548000-81564200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr16:81548000-81564200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:81548200-81559600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr16:81548200-81560000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr16:81548200-81560600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr16:81548800-81560400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr16:81548800-81567400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:81551000-81559600	Weak transcription	Fetal Lung	lung
13	chr16:81551400-81559000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr16:81551400-81559200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr16:81551400-81563800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr16:81552200-81559200	Weak transcription	NHLF	lung
17	chr16:81552200-81559600	Weak transcription	Right Ventricle	heart
18	chr16:81552200-81560200	Weak transcription	Fetal Muscle Leg	muscle
19	chr16:81552200-81561000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr16:81552200-81564600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr16:81552400-81560200	Weak transcription	Ovary	ovary
22	chr16:81552800-81563400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr16:81553200-81560200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr16:81553200-81560200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr16:81553200-81562400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr16:81553600-81559600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr16:81553600-81559800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr16:81553600-81560400	Weak transcription	Colonic Mucosa	Colon
29	chr16:81553600-81565400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr16:81553800-81560400	Weak transcription	Left Ventricle	heart
31	chr16:81553800-81566200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:81554000-81559600	Weak transcription	HUVEC	blood vessel
33	chr16:81554000-81560000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr16:81555200-81559600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:81555400-81560400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr16:81555400-81563200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr16:81555400-81576800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr16:81555600-81560200	Weak transcription	Fetal Brain Female	brain
39	chr16:81555600-81560400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:81555800-81560000	Weak transcription	Brain Anterior Caudate	brain
41	chr16:81555800-81572200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr16:81556000-81559600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:81556000-81559800	Weak transcription	Small Intestine	intestine
44	chr16:81556000-81560000	Weak transcription	Brain Hippocampus Middle	brain
45	chr16:81556000-81560400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr16:81556000-81560400	Weak transcription	Fetal Brain Male	brain
47	chr16:81556000-81590000	Weak transcription	Dnd41	blood
48	chr16:81556200-81568000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:81556200-81577600	Weak transcription	GM12878-XiMat	blood
50	chr16:81556400-81559600	Weak transcription	Adipose Nuclei	Adipose

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