Variant report

Variant	rs9302626
Chromosome Location	chr16:71645283-71645284
allele	C/G
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71644641..71645674-chr16:71679043..71680015,5	MCF-7	breast:
2	chr16:71446366..71447179-chr16:71644599..71645567,3	K562	blood:
3	chr16:71644466..71645406-chr16:71995435..71996080,2	K562	blood:
4	chr16:71533780..71534445-chr16:71644552..71645471,2	MCF-7	breast:
5	chr16:71586592..71587218-chr16:71644906..71645667,2	MCF-7	breast:
6	chr16:71598501..71600044-chr16:71644493..71645682,11	MCF-7	breast:
7	chr16:71598829..71599535-chr16:71644892..71645491,2	MCF-7	breast:
8	chr16:71567921..71569617-chr16:71645011..71646646,2	MCF-7	breast:
9	chr16:71645006..71646699-chr16:71648502..71650487,2	MCF-7	breast:
10	chr16:71536485..71537281-chr16:71644648..71645398,2	MCF-7	breast:
11	chr16:71645072..71647361-chr16:71660009..71661728,2	MCF-7	breast:
12	chr16:71598932..71599494-chr16:71644689..71645368,2	K562	blood:
13	chr16:71596573..71599590-chr16:71642907..71646466,3	MCF-7	breast:
14	chr16:71446668..71447388-chr16:71644674..71645331,3	MCF-7	breast:
15	chr16:71540507..71541058-chr16:71644975..71645549,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260593	Chromatin interaction
ENSG00000252339	Chromatin interaction
ENSG00000260886	Chromatin interaction
ENSG00000140832	Chromatin interaction
ENSG00000157429	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11075896	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs11075897	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs13331951	0.83[AFR][1000 genomes]
rs13333988	0.87[AFR][1000 genomes]
rs13334187	0.88[YRI][hapmap]
rs13334255	0.94[YRI][hapmap]
rs13337162	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338265	0.83[AFR][1000 genomes]
rs13338868	0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13339574	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28436203	0.89[YRI][hapmap]
rs28556848	0.83[AFR][1000 genomes]
rs28649987	0.83[AFR][1000 genomes]
rs28681277	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28712876	0.87[AFR][1000 genomes]
rs28744680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56209933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57827931	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61258964	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7198645	0.89[YRI][hapmap]
rs73578257	0.83[AFR][1000 genomes]
rs73584836	0.86[AFR][1000 genomes]
rs8045394	0.89[YRI][hapmap]
rs8048170	0.87[AFR][1000 genomes]
rs8059131	0.89[YRI][hapmap]
rs8062948	0.83[AFR][1000 genomes]
rs9302628	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs9921552	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9923154	0.89[YRI][hapmap]
rs9924862	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925371	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926077	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9927004	0.80[AFR][1000 genomes]
rs9928298	0.89[YRI][hapmap]
rs9928788	0.83[AFR][1000 genomes]
rs9930271	0.89[YRI][hapmap]
rs9930573	0.83[AFR][1000 genomes]
rs9930588	0.90[YRI][hapmap]
rs9934778	0.83[AFR][1000 genomes]
rs9935867	0.80[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	esv3430225	chr16:71633500-71661205	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71642000-71645400	Enhancers	GM12878-XiMat	blood
2	chr16:71644200-71647600	Weak transcription	Right Atrium	heart
3	chr16:71644400-71645400	Enhancers	Primary B cells from cord blood	blood
4	chr16:71644400-71645600	Enhancers	Primary B cells from peripheral blood	blood
5	chr16:71644800-71645400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr16:71644800-71645400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:71644800-71645400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:71644800-71645400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:71644800-71645400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr16:71644800-71645400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr16:71644800-71645400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:71644800-71645400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
13	chr16:71644800-71645400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:71644800-71645400	Flanking Active TSS	Liver	Liver
15	chr16:71644800-71645400	Active TSS	Brain Hippocampus Middle	brain
16	chr16:71644800-71645400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr16:71644800-71645400	Enhancers	Brain Substantia Nigra	brain
18	chr16:71644800-71645400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr16:71644800-71645400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr16:71644800-71645400	Enhancers	Fetal Thymus	thymus
21	chr16:71644800-71645400	Enhancers	Pancreas	Pancrea
22	chr16:71644800-71645400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr16:71644800-71645400	Bivalent Enhancer	Dnd41	blood
24	chr16:71644800-71645400	Enhancers	NHDF-Ad	bronchial
25	chr16:71644800-71645600	Flanking Active TSS	HepG2	liver
26	chr16:71644800-71645800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr16:71644800-71645800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr16:71644800-71646000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr16:71645000-71645400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr16:71645000-71645400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr16:71645000-71645400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr16:71645000-71645400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:71645000-71645400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:71645000-71645400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:71645000-71645400	Active TSS	A549	lung
36	chr16:71645000-71645800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr16:71645200-71645400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
38	chr16:71645200-71645400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr16:71645200-71645400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr16:71645200-71645400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr16:71645200-71645400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:71645200-71645400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
43	chr16:71645200-71645400	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr16:71645200-71645400	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr16:71645200-71645400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
46	chr16:71645200-71645400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
47	chr16:71645200-71645400	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr16:71645200-71645400	Bivalent Enhancer	Left Ventricle	heart
49	chr16:71645200-71645400	Flanking Active TSS	Stomach Mucosa	stomach
50	chr16:71645200-71645400	Flanking Active TSS	Osteobl	bone

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