Variant report

Variant	rs72895528
Chromosome Location	chr1:44949934-44949935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:44942111..44945407-chr1:44946739..44951751,4	K562	blood:
2	chr1:44911243..44913020-chr1:44948878..44951824,2	K562	blood:
3	chr1:44941606..44943611-chr1:44949002..44951401,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11211009	0.88[ASN][1000 genomes]
rs72895533	0.94[ASN][1000 genomes]
rs7354900	0.92[ASN][1000 genomes]
rs895094	0.92[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	nsv1010785	chr1:44407804-44974324	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv534938	chr1:44407804-44974324	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44946400-44951600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:44946800-44951600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:44947400-44951600	Enhancers	Primary hematopoietic stem cells	blood
4	chr1:44948000-44951200	Enhancers	Brain Hippocampus Middle	brain
5	chr1:44948600-44952800	Enhancers	Brain Angular Gyrus	brain
6	chr1:44948800-44952000	Enhancers	Brain Anterior Caudate	brain
7	chr1:44948800-44952600	Enhancers	HSMMtube	muscle
8	chr1:44949000-44950600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:44949000-44953000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:44949200-44952000	Enhancers	Fetal Heart	heart
11	chr1:44949200-44952400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:44949200-44952600	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:44949200-44952600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr1:44949200-44952600	Enhancers	Brain Substantia Nigra	brain
15	chr1:44949400-44950000	Enhancers	Hela-S3	cervix
16	chr1:44949400-44950400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:44949400-44952000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:44949400-44952200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:44949400-44952200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:44949600-44950000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:44949600-44950000	Enhancers	HMEC	breast
22	chr1:44949600-44950200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:44949600-44950200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:44949600-44950400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:44949600-44950400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:44949600-44950400	Enhancers	Right Atrium	heart
27	chr1:44949600-44950400	Flanking Active TSS	Osteobl	bone
28	chr1:44949600-44950600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:44949600-44950800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:44949600-44951000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:44949600-44951200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:44949600-44951200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr1:44949600-44951600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr1:44949600-44951800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr1:44949600-44952000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr1:44949600-44952000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:44949600-44952000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr1:44949600-44952000	Enhancers	NH-A	brain
39	chr1:44949600-44952400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr1:44949600-44952600	Enhancers	HSMM	muscle
41	chr1:44949800-44950200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:44949800-44950400	Enhancers	Left Ventricle	heart
43	chr1:44949800-44950600	Enhancers	Right Ventricle	heart
44	chr1:44949800-44951000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr1:44949800-44952000	Enhancers	Adipose Nuclei	Adipose
46	chr1:44949800-44952000	Enhancers	Fetal Muscle Leg	muscle
47	chr1:44949800-44952400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:44949800-44952400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:44949800-44952600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:44949800-44952600	Enhancers	K562	blood

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