Variant report

Variant	rs3169330
Chromosome Location	chr16:75269267-75269268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75266448..75270263-chr16:75270931..75275548,5	MCF-7	breast:
2	chr16:75266627..75269823-chr16:75278974..75282464,4	K562	blood:
3	chr16:75257846..75260546-chr16:75267486..75270015,2	MCF-7	breast:
4	chr16:75265003..75270372-chr16:75282943..75286802,5	K562	blood:
5	chr16:75267679..75270167-chr16:75298164..75300963,4	K562	blood:

Variant related genes	Relation type
ENSG00000050820	Chromatin interaction
ENSG00000240338	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1019539	0.86[CEU][hapmap]
rs1035540	0.86[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs10871304	0.86[CEU][hapmap]
rs1107593	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11149811	0.86[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11641896	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12924999	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1559361	0.85[CEU][hapmap]
rs1808427	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1862738	0.91[EUR][1000 genomes]
rs2870471	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2870472	0.86[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs4479268	0.86[CEU][hapmap]
rs4737	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4888361	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888362	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4888363	1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs4888364	0.94[EUR][1000 genomes]
rs4888365	0.96[EUR][1000 genomes]
rs6564221	0.86[CEU][hapmap]
rs6564239	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs6564241	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564243	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7195938	0.86[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs7202566	0.89[EUR][1000 genomes]
rs8048371	0.93[EUR][1000 genomes]
rs8048956	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8057145	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs8059190	0.86[CEU][hapmap];0.91[EUR][1000 genomes]
rs8061356	0.90[EUR][1000 genomes]
rs889514	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs889515	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs9319481	0.85[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9927264	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9928842	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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 target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv906911	chr16:75252526-75296247	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv1813349	chr16:75257361-75302684	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
16	nsv906913	chr16:75267743-75306402	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 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	chr16:75260800-75278000	Weak transcription	Small Intestine	intestine
2	chr16:75261400-75271800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:75261400-75272400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:75261800-75272200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:75262000-75270600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr16:75262000-75271800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr16:75262000-75277400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:75262800-75270800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr16:75263000-75271600	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr16:75263200-75274800	Weak transcription	Fetal Kidney	kidney
11	chr16:75263600-75271400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr16:75264200-75274800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr16:75264800-75271800	Strong transcription	Osteobl	bone
14	chr16:75265200-75272000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr16:75266400-75271000	Strong transcription	Brain Germinal Matrix	brain
16	chr16:75266400-75271200	Strong transcription	Fetal Brain Female	brain
17	chr16:75266400-75272000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr16:75266600-75269600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:75266600-75272200	Strong transcription	Lung	lung
20	chr16:75266600-75278800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:75267200-75271400	Genic enhancers	Brain Hippocampus Middle	brain
22	chr16:75267200-75272800	Genic enhancers	NHLF	lung
23	chr16:75267400-75269400	Genic enhancers	Placenta	Placenta
24	chr16:75267400-75270000	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr16:75267400-75271000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:75267600-75269400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:75267600-75270000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:75267600-75271400	Genic enhancers	Brain Inferior Temporal Lobe	brain
29	chr16:75267600-75271600	Genic enhancers	Right Ventricle	heart
30	chr16:75267600-75272200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr16:75267600-75273600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr16:75267800-75269400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:75267800-75269400	Genic enhancers	NH-A	brain
34	chr16:75267800-75270000	Genic enhancers	HMEC	breast
35	chr16:75268000-75269600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:75268000-75271600	Genic enhancers	Gastric	stomach
37	chr16:75268000-75277200	Genic enhancers	Spleen	Spleen
38	chr16:75268200-75270400	Strong transcription	HSMMtube	muscle
39	chr16:75268200-75271600	Genic enhancers	Stomach Smooth Muscle	stomach
40	chr16:75268200-75277000	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr16:75268400-75269400	Strong transcription	Fetal Intestine Large	intestine
42	chr16:75268400-75270600	Strong transcription	Fetal Lung	lung
43	chr16:75268400-75271400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr16:75268400-75271400	Weak transcription	Right Atrium	heart
45	chr16:75268400-75271600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr16:75268400-75271600	Strong transcription	Fetal Intestine Small	intestine
47	chr16:75268400-75272000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr16:75268400-75275600	Weak transcription	GM12878-XiMat	blood
49	chr16:75268600-75269800	Strong transcription	Pancreas	Pancrea
50	chr16:75268600-75270600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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