Variant report

Variant	rs6499607
Chromosome Location	chr16:73098690-73098691
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	chr16:72865444..72867125-chr16:73097425..73099018,2	MCF-7	breast:
2	chr16:73097830..73099712-chr16:73187498..73189012,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1075855	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2285394	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6416748	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs739414	0.94[CEU][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7404072	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7405169	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7405247	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8048267	0.86[JPT][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv827733	chr16:73075114-73103721	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	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
6	esv1837302	chr16:73091679-73102456	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73087800-73099200	Active TSS	Aorta	Aorta
2	chr16:73093200-73100600	Weak transcription	Gastric	stomach
3	chr16:73095000-73099200	Weak transcription	Colon Smooth Muscle	Colon
4	chr16:73095200-73100200	Weak transcription	Psoas Muscle	Psoas
5	chr16:73096000-73100000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:73096400-73099400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:73096400-73099600	Bivalent Enhancer	Fetal Intestine Small	intestine
8	chr16:73096600-73100600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr16:73096600-73101000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr16:73096800-73099000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr16:73096800-73099200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr16:73096800-73100200	Bivalent Enhancer	Fetal Stomach	stomach
13	chr16:73097000-73099200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
14	chr16:73097000-73099600	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr16:73097000-73099800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
16	chr16:73097000-73100200	Bivalent Enhancer	Fetal Heart	heart
17	chr16:73097000-73100600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:73097000-73100800	Bivalent Enhancer	Primary B cells from cord blood	blood
19	chr16:73097200-73099400	Flanking Active TSS	NHLF	lung
20	chr16:73097200-73101400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
21	chr16:73097400-73098800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
22	chr16:73097400-73098800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr16:73097400-73099800	Active TSS	Stomach Smooth Muscle	stomach
24	chr16:73097400-73100400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr16:73097600-73099200	Flanking Active TSS	NH-A	brain
26	chr16:73097600-73100200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr16:73097600-73100600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
28	chr16:73097600-73101000	Bivalent Enhancer	Fetal Thymus	thymus
29	chr16:73097800-73098800	Bivalent Enhancer	Thymus	Thymus
30	chr16:73097800-73099000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
31	chr16:73097800-73099000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:73097800-73099000	Flanking Active TSS	Hela-S3	cervix
33	chr16:73097800-73099000	Bivalent Enhancer	HepG2	liver
34	chr16:73097800-73099000	Flanking Active TSS	Osteobl	bone
35	chr16:73097800-73099200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr16:73097800-73099400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr16:73097800-73099400	Flanking Active TSS	NHEK	skin
38	chr16:73097800-73099800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
39	chr16:73097800-73100400	Bivalent Enhancer	Fetal Intestine Large	intestine
40	chr16:73097800-73101400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
41	chr16:73097800-73102000	Bivalent Enhancer	Stomach Mucosa	stomach
42	chr16:73098000-73098800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:73098000-73098800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
44	chr16:73098000-73098800	Enhancers	Pancreas	Pancrea
45	chr16:73098000-73099000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr16:73098000-73099000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:73098000-73099000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr16:73098000-73099000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
49	chr16:73098000-73099000	Bivalent Enhancer	Colonic Mucosa	Colon
50	chr16:73098000-73099000	Flanking Active TSS	HMEC	breast

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