Variant report

Variant	rs9935646
Chromosome Location	chr16:81507748-81507749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81506233..81509171-chr16:81529935..81531469,2	MCF-7	breast:
2	chr16:81480768..81483026-chr16:81506735..81508794,2	MCF-7	breast:
3	chr16:81493353..81497487-chr16:81505659..81509589,4	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs13330047	1.00[AMR][1000 genomes]
rs13330236	1.00[AMR][1000 genomes]
rs13330460	1.00[AMR][1000 genomes]
rs13331648	1.00[AMR][1000 genomes]
rs13333096	1.00[AMR][1000 genomes]
rs13335545	1.00[AMR][1000 genomes]
rs13336715	1.00[AMR][1000 genomes]
rs13336792	1.00[AMR][1000 genomes]
rs13338579	1.00[AMR][1000 genomes]
rs16955449	1.00[AMR][1000 genomes]
rs28412656	1.00[AMR][1000 genomes]
rs28418533	1.00[AMR][1000 genomes]
rs28436066	1.00[AMR][1000 genomes]
rs28438989	1.00[AMR][1000 genomes]
rs28493867	1.00[AMR][1000 genomes]
rs28572501	1.00[AMR][1000 genomes]
rs28594283	1.00[AMR][1000 genomes]
rs28669745	1.00[AMR][1000 genomes]
rs28711634	1.00[AMR][1000 genomes]
rs28763301	1.00[AMR][1000 genomes]
rs2927303	1.00[AMR][1000 genomes]
rs2927306	1.00[AMR][1000 genomes]
rs2927309	1.00[AMR][1000 genomes]
rs2927310	1.00[AMR][1000 genomes]
rs2966089	1.00[AMR][1000 genomes]
rs2966096	1.00[AMR][1000 genomes]
rs56850891	1.00[AMR][1000 genomes]
rs73594494	1.00[AMR][1000 genomes]
rs73594496	1.00[AMR][1000 genomes]
rs73596412	1.00[AMR][1000 genomes]
rs73596428	1.00[AMR][1000 genomes]
rs73596440	1.00[AMR][1000 genomes]
rs73596462	1.00[AMR][1000 genomes]
rs9921409	1.00[AMR][1000 genomes]
rs9923475	1.00[AMR][1000 genomes]
rs9925710	1.00[AMR][1000 genomes]
rs9925814	1.00[AMR][1000 genomes]
rs9927474	1.00[AMR][1000 genomes]
rs9928818	1.00[AMR][1000 genomes]
rs9929135	1.00[AMR][1000 genomes]
rs9932717	1.00[AMR][1000 genomes]
rs9933163	1.00[AMR][1000 genomes]
rs9934014	1.00[AMR][1000 genomes]
rs9934846	1.00[AMR][1000 genomes]
rs9934867	1.00[AMR][1000 genomes]
rs9935244	1.00[AMR][1000 genomes]
rs9935348	1.00[AMR][1000 genomes]
rs9935375	1.00[AMR][1000 genomes]
rs9935617	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9936412	1.00[AMR][1000 genomes]
rs9937004	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv34108	chr16:81469090-81510471	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81485600-81516800	Weak transcription	Hela-S3	cervix
2	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:81490600-81509800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr16:81492200-81512200	Genic enhancers	A549	lung
5	chr16:81496800-81514400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr16:81497600-81514600	Weak transcription	HSMM	muscle
7	chr16:81501800-81514400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:81501800-81515200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:81503000-81516600	Weak transcription	Brain Germinal Matrix	brain
10	chr16:81503800-81511200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr16:81504000-81509800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:81504000-81511600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:81504000-81517800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr16:81504200-81507800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr16:81504200-81513400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr16:81504200-81518200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:81504400-81507800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr16:81504400-81507800	Genic enhancers	Duodenum Mucosa	Duodenum
19	chr16:81504400-81507800	Genic enhancers	Gastric	stomach
20	chr16:81504400-81508600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr16:81504400-81508800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr16:81504400-81508800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr16:81504400-81514600	Strong transcription	NHEK	skin
24	chr16:81504800-81507800	Genic enhancers	Primary monocytes fromperipheralblood	blood
25	chr16:81505000-81508200	Genic enhancers	Monocytes-CD14+_RO01746	blood
26	chr16:81505200-81508000	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr16:81505200-81508200	Genic enhancers	HepG2	liver
28	chr16:81505200-81511800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:81505200-81525600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr16:81505400-81521800	Weak transcription	Fetal Kidney	kidney
31	chr16:81505600-81508400	Enhancers	HUVEC	blood vessel
32	chr16:81505600-81508600	Enhancers	Placenta	Placenta
33	chr16:81505600-81512800	Strong transcription	Dnd41	blood
34	chr16:81505800-81508000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr16:81505800-81508000	Genic enhancers	Lung	lung
36	chr16:81505800-81508400	Enhancers	Liver	Liver
37	chr16:81505800-81508400	Enhancers	Right Atrium	heart
38	chr16:81505800-81508600	Weak transcription	K562	blood
39	chr16:81505800-81514200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:81505800-81515000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr16:81505800-81523600	Weak transcription	Fetal Brain Male	brain
42	chr16:81506000-81508000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr16:81506000-81508000	Enhancers	Colonic Mucosa	Colon
44	chr16:81506000-81508400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr16:81506000-81508400	Enhancers	Left Ventricle	heart
46	chr16:81506000-81509400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:81506000-81546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr16:81506200-81507800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr16:81506200-81507800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr16:81506200-81507800	Enhancers	Brain Inferior Temporal Lobe	brain

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