Variant report

Variant	rs11866483
Chromosome Location	chr16:71725215-71725216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71724424..71728280-chr16:71728369..71732194,4	MCF-7	breast:
2	chr16:71723824..71726811-chr16:71728451..71731387,3	MCF-7	breast:
3	chr16:71723301..71725915-chr16:71755772..71758292,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261513	Chromatin interaction
ENSG00000040199	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11860038	0.86[AFR][1000 genomes]
rs11860518	0.86[AFR][1000 genomes]
rs11863079	0.86[AFR][1000 genomes]
rs11864242	0.86[AFR][1000 genomes]
rs11865243	0.86[AFR][1000 genomes]
rs11865253	0.86[AFR][1000 genomes]
rs11865412	0.86[AFR][1000 genomes]
rs11865516	0.86[AFR][1000 genomes]
rs11866326	0.86[AFR][1000 genomes]
rs11866980	0.86[AFR][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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv962218	chr16:71645202-71727606	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71672000-71741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:71683800-71756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:71685200-71741200	Weak transcription	Psoas Muscle	Psoas
4	chr16:71685800-71726000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr16:71690600-71733600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr16:71690600-71741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:71690800-71725600	Weak transcription	Fetal Thymus	thymus
8	chr16:71693000-71756400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr16:71695000-71726000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr16:71702000-71756200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:71705000-71741600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr16:71705000-71756200	Weak transcription	Colon Smooth Muscle	Colon
13	chr16:71705000-71756800	Weak transcription	Gastric	stomach
14	chr16:71705200-71732200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr16:71705400-71733000	Weak transcription	Pancreas	Pancrea
16	chr16:71707400-71750200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr16:71710400-71735800	Weak transcription	Right Ventricle	heart
18	chr16:71710600-71726600	Weak transcription	Fetal Brain Male	brain
19	chr16:71710600-71732200	Weak transcription	Thymus	Thymus
20	chr16:71710600-71741800	Weak transcription	Spleen	Spleen
21	chr16:71710600-71756200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr16:71710600-71756400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr16:71710600-71756800	Weak transcription	Lung	lung
24	chr16:71711200-71756400	Weak transcription	K562	blood
25	chr16:71713200-71734800	Weak transcription	Placenta	Placenta
26	chr16:71713400-71732200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr16:71713400-71739800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr16:71713400-71741600	Weak transcription	NHLF	lung
29	chr16:71714600-71733200	Weak transcription	Brain Germinal Matrix	brain
30	chr16:71715800-71726000	Weak transcription	Small Intestine	intestine
31	chr16:71715800-71732200	Weak transcription	NHEK	skin
32	chr16:71715800-71741200	Weak transcription	Hela-S3	cervix
33	chr16:71715800-71756000	Weak transcription	Brain Hippocampus Middle	brain
34	chr16:71716600-71732800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:71716800-71756600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr16:71718800-71732200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr16:71718800-71732200	Weak transcription	Aorta	Aorta
38	chr16:71719000-71739800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr16:71720200-71733000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr16:71721600-71748400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr16:71722000-71725600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr16:71722400-71727800	Strong transcription	Fetal Intestine Large	intestine
43	chr16:71722600-71726000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr16:71722800-71725800	Strong transcription	Fetal Intestine Small	intestine
45	chr16:71722800-71732200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr16:71723000-71725800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr16:71723000-71725800	Strong transcription	Fetal Stomach	stomach
48	chr16:71723000-71727200	Weak transcription	GM12878-XiMat	blood
49	chr16:71723400-71725800	Strong transcription	HMEC	breast
50	chr16:71723600-71725800	Strong transcription	Adipose Nuclei	Adipose

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