Variant report

Variant	rs299835
Chromosome Location	chr17:63114131-63114132
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63051194..63054091-chr17:63113878..63116573,2	MCF-7	breast:
2	chr17:63104937..63106962-chr17:63110869..63114736,3	MCF-7	breast:
3	chr17:63113379..63115678-chr17:63128330..63131233,2	MCF-7	breast:
4	chr17:63113189..63115743-chr17:63122387..63125115,2	MCF-7	breast:
5	chr17:63051251..63053597-chr17:63113186..63114824,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120063	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1010271	1.00[CHB][hapmap]
rs12451009	1.00[CHB][hapmap]
rs1344372	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1554048	1.00[CHB][hapmap]
rs1561939	1.00[CHB][hapmap]
rs190961	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968572	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017033	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs299841	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429583	1.00[CHB][hapmap]
rs59814918	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66806875	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73343983	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73343993	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73345822	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73345825	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73345827	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73345832	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73345835	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73345847	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73345861	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9303478	1.00[CHB][hapmap]
rs986090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066765	chr17:62649313-63124303	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63103000-63118800	Weak transcription	Aorta	Aorta
2	chr17:63103200-63118400	Weak transcription	Left Ventricle	heart
3	chr17:63103200-63118800	Weak transcription	Right Atrium	heart
4	chr17:63103400-63118600	Weak transcription	Brain Anterior Caudate	brain
5	chr17:63103400-63118600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr17:63103800-63118600	Weak transcription	Psoas Muscle	Psoas
7	chr17:63104000-63118600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr17:63104000-63118800	Weak transcription	Colon Smooth Muscle	Colon
9	chr17:63104200-63118600	Weak transcription	Brain Hippocampus Middle	brain
10	chr17:63104400-63118600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr17:63106200-63119000	Weak transcription	Fetal Lung	lung
12	chr17:63106400-63118600	Weak transcription	Adipose Nuclei	Adipose
13	chr17:63108000-63118600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr17:63112400-63118200	Weak transcription	K562	blood
15	chr17:63112400-63118600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr17:63112400-63119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:63113200-63114200	Enhancers	Pancreas	Pancrea
18	chr17:63113400-63114200	Enhancers	Duodenum Mucosa	Duodenum
19	chr17:63113400-63118200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr17:63113600-63117600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:63113800-63114200	Enhancers	Liver	Liver
22	chr17:63113800-63116800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr17:63113800-63117400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:63114000-63117200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr17:63114000-63117600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:63114000-63118600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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