Variant report

Variant	rs4889348
Chromosome Location	chr16:81633117-81633118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81628673..81631001-chr16:81631996..81634111,2	K562	blood:
2	chr16:81476934..81479540-chr16:81632481..81635440,2	MCF-7	breast:
3	chr16:81632422..81634895-chr16:81653001..81657177,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13336783	0.90[ASN][1000 genomes]
rs16955590	1.00[JPT][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16955594	0.87[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[ASN][1000 genomes]
rs4889347	1.00[CEU][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4889352	1.00[CEU][hapmap];0.87[CHB][hapmap];0.96[ASN][1000 genomes]
rs56209914	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66482861	0.90[ASN][1000 genomes]
rs72829079	0.91[ASN][1000 genomes]
rs72829089	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8047876	0.84[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8053831	0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs9888833	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9929106	1.00[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81588200-81640800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr16:81593200-81641200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr16:81616800-81640800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:81617000-81634400	Weak transcription	Ovary	ovary
5	chr16:81617400-81634000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:81617400-81634000	Weak transcription	Fetal Lung	lung
7	chr16:81617400-81648800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr16:81617600-81633400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr16:81617600-81634000	Weak transcription	HUVEC	blood vessel
10	chr16:81618200-81634000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr16:81622400-81641400	Weak transcription	K562	blood
12	chr16:81622600-81641200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr16:81622800-81634200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:81623400-81633600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:81623400-81634400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:81623400-81641200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:81623800-81643400	Weak transcription	Primary B cells from cord blood	blood
18	chr16:81624000-81639800	Weak transcription	Dnd41	blood
19	chr16:81624000-81641000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr16:81624400-81640400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr16:81625000-81640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr16:81625200-81639800	Weak transcription	Primary T cells from cord blood	blood
23	chr16:81625400-81634400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr16:81626200-81634200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr16:81626400-81633200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr16:81626400-81634000	Weak transcription	Right Ventricle	heart
27	chr16:81626400-81634400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr16:81626600-81633400	Weak transcription	Colonic Mucosa	Colon
29	chr16:81626800-81633800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr16:81626800-81637800	Enhancers	Placenta	Placenta
31	chr16:81627000-81633400	Weak transcription	Brain Angular Gyrus	brain
32	chr16:81627000-81635200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr16:81627600-81633400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr16:81629200-81633200	Genic enhancers	HepG2	liver
35	chr16:81629400-81641800	Weak transcription	GM12878-XiMat	blood
36	chr16:81629400-81645200	Genic enhancers	A549	lung
37	chr16:81630200-81635600	Enhancers	Stomach Mucosa	stomach
38	chr16:81630400-81633200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr16:81630400-81641200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr16:81630600-81633400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr16:81630800-81641200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr16:81631000-81634600	Weak transcription	Liver	Liver
43	chr16:81631000-81635600	Enhancers	Esophagus	oesophagus
44	chr16:81631200-81633600	Strong transcription	Fetal Intestine Small	intestine
45	chr16:81631200-81634000	Weak transcription	Fetal Intestine Large	intestine
46	chr16:81631200-81634800	Enhancers	Fetal Thymus	thymus
47	chr16:81631200-81639400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr16:81631600-81633600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr16:81631600-81634000	Weak transcription	Small Intestine	intestine
50	chr16:81631600-81634600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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