Variant report

Variant	rs2169446
Chromosome Location	chr16:82769063-82769064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82762397..82764526-chr16:82767820..82769912,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1000078	0.84[JPT][hapmap]
rs10514560	0.89[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11150491	0.85[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs1157118	0.85[JPT][hapmap]
rs11646321	0.92[JPT][hapmap]
rs12103370	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1462035	0.92[JPT][hapmap]
rs17183490	0.84[JPT][hapmap]
rs17273696	0.92[JPT][hapmap]
rs4783263	0.84[JPT][hapmap]
rs4783266	0.84[JPT][hapmap]
rs7197336	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1059718	chr16:82564054-82810003	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv573379	chr16:82713551-82887631	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
7	esv2751616	chr16:82714696-82852296	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1067216	chr16:82719694-82821762	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
9	nsv543000	chr16:82719694-82821762	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1064438	chr16:82762729-82788901	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv907026	chr16:82765607-82812853	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82750200-82780600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr16:82762000-82773800	Weak transcription	NHEK	skin
3	chr16:82766600-82770600	Enhancers	Aorta	Aorta
4	chr16:82766600-82770600	Enhancers	Left Ventricle	heart
5	chr16:82766800-82769200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:82766800-82788600	Weak transcription	HMEC	breast
7	chr16:82767400-82770800	Enhancers	Fetal Brain Male	brain
8	chr16:82767600-82769400	Enhancers	Right Atrium	heart
9	chr16:82767600-82771000	Enhancers	Fetal Muscle Leg	muscle
10	chr16:82767800-82769200	Enhancers	Adipose Nuclei	Adipose
11	chr16:82767800-82769600	Enhancers	Right Ventricle	heart
12	chr16:82767800-82771000	Enhancers	Fetal Stomach	stomach
13	chr16:82768000-82771200	Enhancers	Brain Germinal Matrix	brain
14	chr16:82768200-82770200	Enhancers	Fetal Brain Female	brain
15	chr16:82768200-82771000	Enhancers	HSMMtube	muscle
16	chr16:82768400-82769400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr16:82768400-82769800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr16:82768400-82771000	Enhancers	Colon Smooth Muscle	Colon
19	chr16:82768600-82769200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:82768600-82769400	Enhancers	Brain Hippocampus Middle	brain
21	chr16:82768600-82769800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr16:82768600-82769800	Enhancers	HSMM	muscle
23	chr16:82768600-82770000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:82768600-82770000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr16:82768600-82770200	Enhancers	NHDF-Ad	bronchial
26	chr16:82768600-82770400	Weak transcription	Psoas Muscle	Psoas
27	chr16:82768600-82770800	Enhancers	Rectal Smooth Muscle	rectum
28	chr16:82768600-82773400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:82768600-82775800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr16:82768600-82784800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:82768800-82769200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:82768800-82769200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr16:82768800-82769200	Enhancers	Osteobl	bone
34	chr16:82768800-82769400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:82768800-82769600	Enhancers	Brain Angular Gyrus	brain
36	chr16:82768800-82769600	Enhancers	Brain Substantia Nigra	brain
37	chr16:82768800-82770600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr16:82768800-82770600	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr16:82769000-82769400	Flanking Active TSS	GM12878-XiMat	blood
40	chr16:82769000-82769800	Flanking Active TSS	Fetal Heart	heart
41	chr16:82769000-82770000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr16:82769000-82770600	Enhancers	Primary B cells from peripheral blood	blood

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