Variant report

Variant	rs4888153
Chromosome Location	chr16:81565749-81565750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81560059..81563945-chr16:81564065..81567469,4	MCF-7	breast:
2	chr16:81478644..81481308-chr16:81565155..81566778,2	K562	blood:
3	chr16:81560475..81564171-chr16:81564775..81571060,7	K562	blood:
4	chr16:81563450..81565897-chr16:81690369..81692226,2	K562	blood:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10514518	0.89[CEU][hapmap]
rs13333159	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs1870924	0.89[CEU][hapmap];0.84[JPT][hapmap]
rs28495808	0.84[ASN][1000 genomes]
rs2925980	0.81[CHB][hapmap];0.86[ASN][1000 genomes]
rs2925983	0.87[CHB][hapmap];0.87[ASN][1000 genomes]
rs2927318	0.86[ASN][1000 genomes]
rs2966111	0.86[ASN][1000 genomes]
rs2966112	0.80[CEU][hapmap]
rs4889332	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4889336	1.00[CEU][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62046623	0.86[ASN][1000 genomes]
rs881213	0.82[CHB][hapmap];0.87[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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81547400-81571600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr16:81547800-81571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr16:81548800-81567400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:81553800-81566200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:81555400-81576800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr16:81555800-81572200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr16:81556000-81590000	Weak transcription	Dnd41	blood
8	chr16:81556200-81568000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:81556200-81577600	Weak transcription	GM12878-XiMat	blood
10	chr16:81556800-81571400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr16:81560200-81567800	Enhancers	Placenta	Placenta
12	chr16:81560400-81566800	Weak transcription	NHLF	lung
13	chr16:81560600-81584800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr16:81560800-81566200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:81560800-81566400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr16:81560800-81571600	Weak transcription	Fetal Brain Male	brain
17	chr16:81560800-81571600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr16:81560800-81572200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr16:81561000-81566400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr16:81561000-81567400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr16:81561000-81567400	Weak transcription	Gastric	stomach
22	chr16:81561000-81576400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr16:81561000-81576800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:81561400-81566400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr16:81561400-81571600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr16:81561400-81571600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr16:81561400-81572600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr16:81561400-81575000	Weak transcription	HUVEC	blood vessel
29	chr16:81561400-81576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr16:81561400-81576600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr16:81561600-81566000	Genic enhancers	A549	lung
32	chr16:81561600-81571400	Weak transcription	Right Atrium	heart
33	chr16:81561600-81571600	Weak transcription	Fetal Lung	lung
34	chr16:81561600-81573000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr16:81561600-81576600	Weak transcription	Right Ventricle	heart
36	chr16:81561600-81577600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr16:81562000-81578000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr16:81562200-81569400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr16:81562400-81572800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr16:81562600-81571800	Weak transcription	Stomach Mucosa	stomach
41	chr16:81563200-81569400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr16:81563400-81566200	Weak transcription	Lung	lung
43	chr16:81563400-81566600	Genic enhancers	HepG2	liver
44	chr16:81563400-81566600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr16:81563400-81569800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr16:81563600-81578000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr16:81563800-81566800	Strong transcription	Fetal Stomach	stomach
48	chr16:81563800-81572600	Weak transcription	Brain Germinal Matrix	brain
49	chr16:81564200-81566000	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr16:81564200-81566400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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