Variant report

Variant	rs57177093
Chromosome Location	chr16:81572704-81572705
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81571814..81573956-chr16:81577277..81579755,3	K562	blood:
2	chr16:81572067..81574321-chr16:81585203..81586981,2	K562	blood:
3	chr16:81572606..81575299-chr16:81599746..81602718,2	MCF-7	breast:
4	chr16:81477024..81479493-chr16:81572389..81574528,2	MCF-7	breast:
5	chr16:81565757..81568380-chr16:81569280..81572909,4	K562	blood:
6	chr16:81569545..81572844-chr16:81574996..81578300,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13331139	1.00[EUR][1000 genomes]
rs16955600	1.00[EUR][1000 genomes]
rs16955606	1.00[EUR][1000 genomes]
rs16955612	1.00[EUR][1000 genomes]
rs4243207	1.00[EUR][1000 genomes]
rs4889338	1.00[EUR][1000 genomes]
rs56360425	1.00[EUR][1000 genomes]
rs56787727	1.00[EUR][1000 genomes]
rs60095351	1.00[EUR][1000 genomes]
rs60730964	1.00[EUR][1000 genomes]
rs60880568	1.00[EUR][1000 genomes]
rs61079357	1.00[EUR][1000 genomes]
rs61293946	1.00[EUR][1000 genomes]
rs7191922	1.00[EUR][1000 genomes]
rs7191961	1.00[EUR][1000 genomes]
rs7198651	1.00[EUR][1000 genomes]
rs73594488	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73596424	1.00[EUR][1000 genomes]
rs73596429	1.00[EUR][1000 genomes]
rs73596439	1.00[EUR][1000 genomes]
rs73596448	1.00[EUR][1000 genomes]
rs73596482	1.00[EUR][1000 genomes]
rs73596490	1.00[EUR][1000 genomes]
rs73596500	1.00[EUR][1000 genomes]
rs73596501	1.00[EUR][1000 genomes]
rs73598433	1.00[EUR][1000 genomes]
rs73598441	1.00[EUR][1000 genomes]
rs74031207	1.00[EUR][1000 genomes]
rs74031208	1.00[EUR][1000 genomes]
rs74031210	1.00[EUR][1000 genomes]
rs8057329	1.00[EUR][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	chr16:81555400-81576800	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	chr16:81561400-81575000	Weak transcription	HUVEC	blood vessel
8	chr16:81561400-81576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:81561400-81576600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr16:81561600-81573000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:81561600-81576600	Weak transcription	Right Ventricle	heart
12	chr16:81561600-81577600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr16:81562000-81578000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr16:81562400-81572800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr16:81563600-81578000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr16:81565200-81576400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr16:81565200-81588200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr16:81565400-81572800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr16:81565800-81573000	Weak transcription	Fetal Thymus	thymus
20	chr16:81566600-81572800	Weak transcription	Lung	lung
21	chr16:81566600-81584600	Weak transcription	Fetal Brain Female	brain
22	chr16:81567200-81576600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr16:81567800-81572800	Weak transcription	Colonic Mucosa	Colon
24	chr16:81567800-81572800	Weak transcription	Esophagus	oesophagus
25	chr16:81567800-81572800	Weak transcription	Placenta	Placenta
26	chr16:81567800-81576000	Weak transcription	NHLF	lung
27	chr16:81567800-81576600	Weak transcription	Gastric	stomach
28	chr16:81568000-81572800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr16:81568000-81576600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr16:81568000-81582000	Genic enhancers	A549	lung
31	chr16:81568600-81572800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr16:81569800-81578000	Weak transcription	HMEC	breast
33	chr16:81570000-81572800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr16:81570000-81575000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr16:81570000-81575800	Genic enhancers	HepG2	liver
36	chr16:81570400-81576800	Weak transcription	Primary T cells from cord blood	blood
37	chr16:81570400-81577600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr16:81570600-81573200	Weak transcription	Thymus	Thymus
39	chr16:81570600-81577600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr16:81570800-81572800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr16:81570800-81576000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr16:81570800-81576400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr16:81570800-81576600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr16:81570800-81594200	Weak transcription	Hela-S3	cervix
45	chr16:81571200-81573400	Enhancers	Adipose Nuclei	Adipose
46	chr16:81571200-81573600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr16:81571400-81573000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr16:81571400-81573200	Enhancers	Fetal Stomach	stomach
49	chr16:81571400-81573400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:81571400-81573600	Enhancers	Fetal Muscle Leg	muscle

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