Variant report

Variant	rs6499608
Chromosome Location	chr16:73105415-73105416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:73103945..73105807-chr17:57916043..57919632,3	MCF-7	breast:
2	chr16:73103273..73105609-chr6:110532483..110534690,2	MCF-7	breast:
3	chr16:72909808..72911772-chr16:73103855..73105830,2	MCF-7	breast:
4	chr16:73103604..73106516-chr16:73175078..73177528,2	MCF-7	breast:
5	chr16:73103211..73105724-chr16:73127462..73129409,2	MCF-7	breast:
6	chr16:73102510..73107016-chr16:73224696..73227823,4	MCF-7	breast:
7	chr16:73103881..73106291-chr16:73193868..73198572,4	MCF-7	breast:
8	chr16:73104068..73107958-chr16:73109755..73113911,5	MCF-7	breast:
9	chr16:73011002..73013212-chr16:73104417..73107167,2	MCF-7	breast:
10	chr16:73103583..73105787-chr16:73124899..73127498,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260880	Chromatin interaction
ENSG00000199004	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12447078	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6416750	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7359374	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7500675	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8055596	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv827730	chr16:73066699-73115642	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv827732	chr16:73069343-73116594	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	esv1815924	chr16:73085286-73105415	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr16:73101400-73106000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:73101800-73106000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:73103200-73106000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr16:73104200-73105600	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr16:73104200-73106000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr16:73104400-73105600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr16:73104400-73105600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr16:73104400-73105600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr16:73104400-73105600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr16:73104400-73105600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr16:73104400-73105600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr16:73104400-73105600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:73104400-73105600	Enhancers	Spleen	Spleen
14	chr16:73104400-73105600	Flanking Active TSS	Osteobl	bone
15	chr16:73104400-73105800	Bivalent Enhancer	Fetal Thymus	thymus
16	chr16:73104400-73105800	Enhancers	Lung	lung
17	chr16:73104400-73106000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr16:73104400-73106000	Enhancers	Pancreas	Pancrea
19	chr16:73104400-73110200	Weak transcription	Aorta	Aorta
20	chr16:73104600-73105600	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr16:73104600-73105600	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr16:73104600-73105600	Active TSS	Hela-S3	cervix
23	chr16:73104800-73105600	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr16:73104800-73105600	Enhancers	Primary hematopoietic stem cells	blood
25	chr16:73104800-73105600	Enhancers	Left Ventricle	heart
26	chr16:73104800-73105600	Enhancers	NHEK	skin
27	chr16:73104800-73105800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr16:73104800-73105800	Enhancers	Liver	Liver
29	chr16:73104800-73105800	Enhancers	HMEC	breast
30	chr16:73104800-73105800	Enhancers	NH-A	brain
31	chr16:73104800-73106000	Enhancers	Colonic Mucosa	Colon
32	chr16:73104800-73106000	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr16:73104800-73106000	Enhancers	HUVEC	blood vessel
34	chr16:73104800-73106000	Enhancers	NHLF	lung
35	chr16:73104800-73106200	Enhancers	Placenta	Placenta
36	chr16:73105000-73105600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
37	chr16:73105000-73105600	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr16:73105000-73105600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr16:73105000-73105600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr16:73105000-73105600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr16:73105000-73105800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr16:73105000-73105800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:73105000-73105800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:73105000-73105800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:73105000-73105800	Enhancers	Esophagus	oesophagus
46	chr16:73105000-73105800	Enhancers	Small Intestine	intestine
47	chr16:73105000-73105800	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr16:73105000-73105800	Flanking Active TSS	A549	lung
49	chr16:73105000-73105800	Flanking Active TSS	HepG2	liver
50	chr16:73105000-73106000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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