Variant report

Variant	rs469657
Chromosome Location	chr16:11952191-11952192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:11950150..11954789-chr16:11962017..11966243,4	MCF-7	breast:
2	chr16:11495775..11497476-chr16:11950228..11952643,2	K562	blood:
3	chr16:11944931..11948457-chr16:11949497..11952956,3	K562	blood:
4	chr16:11944103..11947078-chr16:11947331..11952478,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188897	Chromatin interaction
ENSG00000171490	Chromatin interaction
ENSG00000263307	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs14817	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs153026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs153027	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1794329	1.00[AMR][1000 genomes]
rs251725	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs33628	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs33632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs33634	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs33656	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs33658	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs370768	1.00[AMR][1000 genomes]
rs379936	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs386606	1.00[AMR][1000 genomes]
rs419029	1.00[AMR][1000 genomes]
rs419040	1.00[AMR][1000 genomes]
rs426424	1.00[AMR][1000 genomes]
rs432140	1.00[AMR][1000 genomes]
rs434806	1.00[AMR][1000 genomes]
rs636664	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs677507	1.00[AMR][1000 genomes]
rs73513691	1.00[AMR][1000 genomes]
rs73515603	1.00[AMR][1000 genomes]
rs73515605	1.00[AMR][1000 genomes]
rs73515607	1.00[AMR][1000 genomes]
rs73515608	1.00[AMR][1000 genomes]
rs73515629	1.00[AMR][1000 genomes]
rs73515632	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043909	chr16:11839910-12007435	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:11946200-11975600	Weak transcription	Aorta	Aorta
2	chr16:11946400-11969400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:11946400-11969400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:11946400-11969400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:11946400-11975600	Weak transcription	Esophagus	oesophagus
6	chr16:11946600-11958400	Weak transcription	Psoas Muscle	Psoas
7	chr16:11946600-11959600	Weak transcription	NHLF	lung
8	chr16:11946600-11961200	Weak transcription	Stomach Mucosa	stomach
9	chr16:11946600-11961400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:11946600-11961400	Weak transcription	Fetal Kidney	kidney
11	chr16:11946600-11961400	Weak transcription	HSMM	muscle
12	chr16:11946600-11961800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:11946600-11961800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:11946600-11961800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr16:11946600-11962000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr16:11946600-11962200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr16:11946600-11962400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr16:11946600-11962400	Weak transcription	HSMMtube	muscle
19	chr16:11946600-11966800	Weak transcription	Lung	lung
20	chr16:11946600-11969000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr16:11946600-11970400	Weak transcription	Right Atrium	heart
22	chr16:11946800-11956600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr16:11946800-11962000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr16:11946800-11962200	Weak transcription	Thymus	Thymus
25	chr16:11947000-11954600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr16:11947000-11961800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr16:11947000-11962000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr16:11947000-11962000	Weak transcription	Fetal Muscle Leg	muscle
29	chr16:11947000-11962400	Weak transcription	Fetal Intestine Large	intestine
30	chr16:11947000-11969400	Weak transcription	Right Ventricle	heart
31	chr16:11947200-11960000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:11947200-11966800	Weak transcription	Small Intestine	intestine
33	chr16:11947200-11967200	Weak transcription	Fetal Intestine Small	intestine
34	chr16:11947200-11967200	Weak transcription	Fetal Stomach	stomach
35	chr16:11947200-11968800	Weak transcription	Ovary	ovary
36	chr16:11948000-11961600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:11948000-11962600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr16:11948000-11963400	Weak transcription	Spleen	Spleen
39	chr16:11948200-11959400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr16:11948200-11960600	Weak transcription	Pancreas	Pancrea
41	chr16:11948200-11961200	Weak transcription	NHEK	skin
42	chr16:11948200-11962200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr16:11948200-11962400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:11948400-11962400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr16:11948400-11962400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr16:11948400-11963200	Weak transcription	Fetal Lung	lung
47	chr16:11948400-11969000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:11948600-11959400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr16:11948600-11961400	Weak transcription	Primary T cells from cord blood	blood
50	chr16:11948600-11962000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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