Variant report

Variant	rs4653459
Chromosome Location	chr1:226844009-226844010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226843493..226845311-chr1:226852768..226855462,2	MCF-7	breast:
2	chr1:226838115..226840553-chr1:226843836..226846958,3	MCF-7	breast:
3	chr1:226842505..226844648-chr1:226846452..226848508,2	MCF-7	breast:
4	chr1:226834023..226836698-chr1:226841817..226845290,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PARP1-1	chr1:226843781-226844975	NONHSAT009899

Variant related genes	Relation type
ENSG00000228382	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3754388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41268731	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41440951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653456	0.86[EUR][1000 genomes]
rs4653458	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4653460	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653760	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4653761	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73098900	0.86[EUR][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	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv873235	chr1:226819073-226851963	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer 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	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226836000-226844200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:226836400-226847200	Weak transcription	Ovary	ovary
3	chr1:226836800-226856200	Enhancers	Left Ventricle	heart
4	chr1:226837000-226849800	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr1:226837200-226844800	Enhancers	Right Ventricle	heart
6	chr1:226837200-226846000	Enhancers	Brain Anterior Caudate	brain
7	chr1:226837400-226848600	Enhancers	Right Atrium	heart
8	chr1:226837400-226856200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:226837400-226856600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:226837400-226856600	Enhancers	Brain Substantia Nigra	brain
11	chr1:226837600-226844600	Enhancers	Placenta	Placenta
12	chr1:226837600-226845600	Enhancers	Lung	lung
13	chr1:226837800-226844400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:226838200-226845200	Enhancers	Fetal Muscle Trunk	muscle
15	chr1:226838800-226848200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:226839200-226846800	Enhancers	Spleen	Spleen
17	chr1:226839400-226845400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:226839400-226856200	Enhancers	Fetal Muscle Leg	muscle
19	chr1:226839800-226844800	Genic enhancers	Fetal Stomach	stomach
20	chr1:226840000-226846200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:226840200-226845600	Weak transcription	Aorta	Aorta
22	chr1:226840400-226846000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:226840600-226845000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr1:226840600-226851800	Enhancers	Adipose Nuclei	Adipose
25	chr1:226840600-226852600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:226840600-226852800	Enhancers	Primary hematopoietic stem cells	blood
27	chr1:226840800-226844200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:226840800-226844800	Enhancers	Colonic Mucosa	Colon
29	chr1:226840800-226845200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:226840800-226845400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:226840800-226845600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:226841000-226844600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:226841000-226845800	Enhancers	Fetal Lung	lung
34	chr1:226841000-226847000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:226841000-226847000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:226841000-226847200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:226841200-226844600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr1:226841200-226845600	Enhancers	NH-A	brain
39	chr1:226841200-226845800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:226841200-226845800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:226841200-226846400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr1:226841400-226844600	Enhancers	NHLF	lung
43	chr1:226841400-226845000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:226841400-226845000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr1:226841400-226846400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:226841400-226846400	Enhancers	Fetal Intestine Large	intestine
47	chr1:226841400-226847200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr1:226841600-226844800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr1:226841600-226844800	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr1:226841600-226845000	Enhancers	Primary monocytes fromperipheralblood	blood

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