Variant report

Variant	rs14817
Chromosome Location	chr16:11928299-11928300
allele	C/T
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	chr16:11927858..11929755-chr16:11932603..11935135,2	MCF-7	breast:
2	chr16:11925852..11930125-chr16:11943288..11946865,5	K562	blood:
3	chr16:11927537..11932334-chr16:11942409..11946865,5	K562	blood:
4	chr16:11927157..11932947-chr16:11943372..11947936,7	MCF-7	breast:
5	chr16:11927874..11935119-chr16:11941272..11948071,15	MCF-7	breast:
6	chr16:11890797..11893057-chr16:11928210..11930365,2	MCF-7	breast:
7	chr16:11928127..11930180-chr16:11937306..11938927,2	MCF-7	breast:
8	chr11:62607979..62609504-chr16:11928158..11929809,2	MCF-7	breast:
9	chr16:11920244..11921970-chr16:11927401..11929489,2	K562	blood:
10	chr16:11927974..11933257-chr16:11934025..11938178,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263307	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000122299	Chromatin interaction
ENSG00000171490	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
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[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];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[ASW][hapmap];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[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs426424	1.00[AMR][1000 genomes]
rs432140	1.00[AMR][1000 genomes]
rs434806	1.00[AMR][1000 genomes]
rs469657	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs636664	0.89[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:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482288	chr16:11776491-11946429	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:11916600-11928800	Weak transcription	Primary B cells from cord blood	blood
2	chr16:11918600-11929600	Weak transcription	Brain Anterior Caudate	brain
3	chr16:11918600-11929800	Weak transcription	Pancreas	Pancrea
4	chr16:11918600-11930000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:11918600-11930200	Weak transcription	Left Ventricle	heart
6	chr16:11918600-11933600	Weak transcription	Stomach Mucosa	stomach
7	chr16:11918600-11943800	Weak transcription	Right Atrium	heart
8	chr16:11918800-11929400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr16:11918800-11930000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr16:11918800-11930000	Weak transcription	Hela-S3	cervix
11	chr16:11918800-11930200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:11918800-11930200	Weak transcription	Colon Smooth Muscle	Colon
13	chr16:11919000-11929600	Weak transcription	Brain Hippocampus Middle	brain
14	chr16:11919000-11929800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr16:11919000-11930000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:11919000-11930000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr16:11919000-11930200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr16:11919000-11930400	Weak transcription	Right Ventricle	heart
19	chr16:11919000-11931400	Weak transcription	Small Intestine	intestine
20	chr16:11919200-11929400	Weak transcription	Brain Germinal Matrix	brain
21	chr16:11919200-11930000	Weak transcription	Fetal Intestine Large	intestine
22	chr16:11919800-11928600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:11923400-11930400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr16:11926200-11928400	Weak transcription	Primary T cells from cord blood	blood
25	chr16:11926200-11930800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:11926400-11929400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr16:11926600-11929400	Weak transcription	Fetal Intestine Small	intestine
28	chr16:11926600-11929600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr16:11926600-11930200	Weak transcription	Fetal Brain Male	brain
30	chr16:11927200-11929400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:11927200-11930000	Enhancers	Placenta	Placenta
32	chr16:11927200-11930000	Weak transcription	NHLF	lung
33	chr16:11927200-11930200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr16:11927200-11930400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr16:11927400-11929200	Weak transcription	Fetal Stomach	stomach
36	chr16:11927400-11930000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr16:11927400-11930600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr16:11927600-11929400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr16:11927600-11929400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:11927600-11929400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:11927600-11929600	Enhancers	Psoas Muscle	Psoas
42	chr16:11927600-11930000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr16:11927600-11930200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:11927800-11928400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr16:11927800-11929000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr16:11927800-11929000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:11927800-11929000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr16:11927800-11929000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr16:11927800-11929000	Enhancers	Liver	Liver
50	chr16:11927800-11929000	Enhancers	HSMM	muscle

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