Variant report

Variant	rs4889336
Chromosome Location	chr16:81576363-81576364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81481928..81485099-chr16:81576354..81580756,4	K562	blood:
2	chr16:81574586..81576745-chr16:81584543..81587499,2	K562	blood:
3	chr16:81547505..81549676-chr16:81576353..81579232,2	MCF-7	breast:
4	chr16:81575449..81577780-chr16:81580287..81583193,2	K562	blood:
5	chr16:81575502..81578399-chr16:81587269..81589357,4	MCF-7	breast:
6	chr16:81569545..81572844-chr16:81574996..81578300,3	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10514518	0.81[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap]
rs13333159	0.82[GIH][hapmap]
rs1870924	0.81[CEU][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes]
rs2925980	0.82[GIH][hapmap];0.86[MEX][hapmap]
rs2966111	0.92[ASN][1000 genomes]
rs2966112	0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap]
rs4888153	1.00[CEU][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4889332	0.95[CEU][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.85[EUR][1000 genomes]
rs62046623	0.92[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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81555400-81576800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr16:81556000-81590000	Weak transcription	Dnd41	blood
3	chr16:81556200-81577600	Weak transcription	GM12878-XiMat	blood
4	chr16:81560600-81584800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:81561000-81576400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr16:81561000-81576800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:81561400-81576600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr16:81561600-81576600	Weak transcription	Right Ventricle	heart
9	chr16:81561600-81577600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr16:81562000-81578000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr16:81563600-81578000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr16:81565200-81576400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr16:81565200-81588200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr16:81566600-81584600	Weak transcription	Fetal Brain Female	brain
15	chr16:81567200-81576600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr16:81567800-81576600	Weak transcription	Gastric	stomach
17	chr16:81568000-81576600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:81568000-81582000	Genic enhancers	A549	lung
19	chr16:81569800-81578000	Weak transcription	HMEC	breast
20	chr16:81570400-81576800	Weak transcription	Primary T cells from cord blood	blood
21	chr16:81570400-81577600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr16:81570600-81577600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr16:81570800-81576400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr16:81570800-81576600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr16:81570800-81594200	Weak transcription	Hela-S3	cervix
26	chr16:81572400-81576600	Weak transcription	Small Intestine	intestine
27	chr16:81572400-81577800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr16:81572800-81576800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr16:81573000-81577000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:81573000-81578000	Weak transcription	Fetal Heart	heart
31	chr16:81573200-81576400	Weak transcription	Colonic Mucosa	Colon
32	chr16:81573200-81577600	Weak transcription	Colon Smooth Muscle	Colon
33	chr16:81573200-81577600	Weak transcription	Fetal Brain Male	brain
34	chr16:81573200-81577600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr16:81573200-81578200	Weak transcription	Brain Anterior Caudate	brain
36	chr16:81573200-81578200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr16:81573200-81580200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:81573400-81576400	Weak transcription	Right Atrium	heart
39	chr16:81573400-81576600	Weak transcription	Adipose Nuclei	Adipose
40	chr16:81573400-81576800	Weak transcription	Brain Angular Gyrus	brain
41	chr16:81573400-81576800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr16:81573400-81576800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr16:81573400-81576800	Weak transcription	HSMM	muscle
44	chr16:81573400-81578200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr16:81573400-81579800	Weak transcription	Brain Germinal Matrix	brain
46	chr16:81573600-81576400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr16:81573600-81576600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr16:81573600-81576600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:81573600-81576600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr16:81573600-81576600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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