Variant report

Variant	rs11582970
Chromosome Location	chr1:45085282-45085283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45081603..45085955-chr1:45194609..45197878,5	K562	blood:
2	chr1:45083755..45085501-chr1:45185803..45188778,2	MCF-7	breast:
3	chr1:45083278..45085630-chr1:45186092..45188492,2	K562	blood:

Variant related genes	Relation type
ENSG00000199377	Chromatin interaction
ENSG00000200169	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1051648	0.88[EUR][1000 genomes]
rs11581172	0.88[EUR][1000 genomes]
rs12731688	0.92[EUR][1000 genomes]
rs1407144	0.88[EUR][1000 genomes]
rs17387413	0.89[EUR][1000 genomes]
rs2018706	0.90[EUR][1000 genomes]
rs2281759	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2355365	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822	0.85[EUR][1000 genomes]
rs34296911	0.90[EUR][1000 genomes]
rs3444	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35791258	0.88[EUR][1000 genomes]
rs3754421	0.85[ASN][1000 genomes]
rs3768439	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3768441	0.85[ASN][1000 genomes]
rs3850852	0.92[EUR][1000 genomes]
rs41269061	0.89[EUR][1000 genomes]
rs4660283	0.90[EUR][1000 genomes]
rs4660284	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4660285	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4660814	0.85[ASN][1000 genomes]
rs4660815	0.90[EUR][1000 genomes]
rs4660816	0.90[EUR][1000 genomes]
rs4660817	0.89[EUR][1000 genomes]
rs56756630	0.85[ASN][1000 genomes]
rs57291201	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs59834392	0.85[ASN][1000 genomes]
rs72671943	0.85[ASN][1000 genomes]
rs72671948	0.85[ASN][1000 genomes]
rs72671949	0.85[ASN][1000 genomes]
rs72671954	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74070566	0.87[EUR][1000 genomes]
rs876511	0.90[EUR][1000 genomes]
rs876512	0.90[EUR][1000 genomes]
rs995089	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45074800-45096800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:45079600-45096800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:45081800-45086000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr1:45082200-45085800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:45082200-45086600	Enhancers	Brain Substantia Nigra	brain
6	chr1:45082800-45087800	Enhancers	Brain Cingulate Gyrus	brain
7	chr1:45083000-45087200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:45083000-45087600	Enhancers	Brain Hippocampus Middle	brain
9	chr1:45083000-45097000	Weak transcription	Spleen	Spleen
10	chr1:45083400-45089000	Enhancers	NHDF-Ad	bronchial
11	chr1:45083400-45097200	Weak transcription	Gastric	stomach
12	chr1:45083600-45085600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:45083600-45085800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:45083600-45085800	Enhancers	Colon Smooth Muscle	Colon
15	chr1:45083600-45086000	Enhancers	Rectal Smooth Muscle	rectum
16	chr1:45083600-45086400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:45083600-45086600	Enhancers	NHLF	lung
18	chr1:45083600-45097000	Weak transcription	Right Atrium	heart
19	chr1:45083800-45091200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:45083800-45096600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:45083800-45096600	Weak transcription	Fetal Heart	heart
22	chr1:45084000-45086000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:45084200-45086000	Enhancers	Fetal Lung	lung
24	chr1:45084200-45086400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:45084200-45097000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:45084400-45085600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:45084400-45085800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:45084400-45086000	Enhancers	NH-A	brain
29	chr1:45084400-45087200	Weak transcription	Brain Angular Gyrus	brain
30	chr1:45084600-45085400	Weak transcription	Brain Anterior Caudate	brain
31	chr1:45084600-45086000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr1:45084600-45086000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:45084800-45085600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr1:45084800-45085800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:45084800-45085800	Enhancers	HSMM	muscle
36	chr1:45084800-45091000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:45084800-45096800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:45085000-45085400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:45085000-45085400	Flanking Active TSS	Osteobl	bone
40	chr1:45085000-45085600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr1:45085000-45085600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:45085000-45085600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr1:45085000-45085800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:45085000-45086000	Enhancers	NHEK	skin
45	chr1:45085200-45085600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr1:45085200-45085600	Bivalent Enhancer	Brain Germinal Matrix	brain
47	chr1:45085200-45085800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:45085200-45085800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr1:45085200-45086400	Enhancers	K562	blood

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