Variant report

Variant	rs11584765
Chromosome Location	chr1:45083357-45083358
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45081603..45085955-chr1:45194609..45197878,5	K562	blood:
2	chr1:45083106..45084761-chr1:45094911..45097627,2	MCF-7	breast:
3	chr1:45083155..45084917-chr1:45193474..45196151,2	MCF-7	breast:
4	chr1:45081991..45084060-chr1:45193843..45197019,3	K562	blood:
5	chr1:45083215..45085000-chr1:45096549..45098340,2	MCF-7	breast:
6	chr1:45082233..45083943-chr1:45100424..45103474,3	MCF-7	breast:
7	chr1:45075968..45077503-chr1:45081930..45084778,2	MCF-7	breast:
8	chr1:45081887..45084948-chr1:45138825..45141826,3	K562	blood:
9	chr1:45083278..45085001-chr1:45186092..45188777,2	K562	blood:
10	chr1:45083278..45085630-chr1:45186092..45188492,2	K562	blood:
11	chr1:45081882..45083718-chr1:45100175..45102916,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199377	Chromatin interaction
ENSG00000126106	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000198520	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11588956	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2236219	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28453885	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
7	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45074800-45096800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:45078000-45084800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:45079600-45084200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:45079600-45096800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:45080200-45084600	Strong transcription	Primary hematopoietic stem cells	blood
6	chr1:45081600-45083400	Enhancers	K562	blood
7	chr1:45081800-45086000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:45082200-45083400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:45082200-45083400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:45082200-45083600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:45082200-45085800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:45082200-45086600	Enhancers	Brain Substantia Nigra	brain
13	chr1:45082400-45083400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr1:45082400-45083400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:45082400-45083400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:45082400-45083400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:45082400-45083400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:45082400-45083400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:45082400-45083400	Enhancers	Liver	Liver
20	chr1:45082400-45083400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
21	chr1:45082400-45083400	Bivalent Enhancer	Fetal Intestine Large	intestine
22	chr1:45082400-45083400	Bivalent Enhancer	Placenta	Placenta
23	chr1:45082400-45083400	Enhancers	Pancreas	Pancrea
24	chr1:45082400-45083600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr1:45082400-45083600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:45082400-45083800	Enhancers	Fetal Heart	heart
27	chr1:45082400-45084200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:45082400-45084600	Enhancers	Brain Anterior Caudate	brain
29	chr1:45082600-45083400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr1:45082600-45083400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:45082600-45083400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:45082600-45083400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:45082600-45083400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
34	chr1:45082600-45083400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:45082600-45083400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:45082600-45083400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
37	chr1:45082600-45083400	Active TSS	Colon Smooth Muscle	Colon
38	chr1:45082600-45083400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr1:45082600-45083400	Enhancers	Gastric	stomach
40	chr1:45082600-45083400	Enhancers	Lung	lung
41	chr1:45082600-45083400	Active TSS	HSMM	muscle
42	chr1:45082600-45083600	Flanking Active TSS	NHLF	lung
43	chr1:45082800-45083400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:45082800-45083400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:45082800-45083400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:45082800-45083400	Active TSS	Right Atrium	heart
47	chr1:45082800-45083400	Active TSS	Right Ventricle	heart
48	chr1:45082800-45084000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr1:45082800-45087800	Enhancers	Brain Cingulate Gyrus	brain
50	chr1:45083000-45083400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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