Variant report

Variant	rs11573544
Chromosome Location	chr1:45305440-45305441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45305082..45310090-chr1:45475264..45482808,8	K562	blood:
2	chr1:45239193..45241536-chr1:45303716..45305875,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225721	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000126088	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11573571	0.83[ASN][1000 genomes]
rs12072767	0.83[ASN][1000 genomes]
rs2355951	0.86[ASN][1000 genomes]
rs263958	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs263993	0.86[ASN][1000 genomes]
rs264000	0.86[ASN][1000 genomes]
rs264016	0.86[ASN][1000 genomes]
rs3738249	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269075	0.83[ASN][1000 genomes]
rs41269093	0.83[ASN][1000 genomes]
rs41269097	0.86[ASN][1000 genomes]
rs41269101	0.86[ASN][1000 genomes]
rs41311199	0.83[ASN][1000 genomes]
rs449870	0.86[ASN][1000 genomes]
rs474207	0.86[ASN][1000 genomes]
rs506691	0.86[ASN][1000 genomes]
rs638062	0.86[ASN][1000 genomes]
rs7533668	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
5	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
6	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
7	nsv870815	chr1:45233638-45318752	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
8	nsv546146	chr1:45258141-45318752	Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	109 gene(s)	inside rSNPs	diseases
9	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
10	nsv532505	chr1:45303803-45307152	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45286400-45308400	Weak transcription	Aorta	Aorta
2	chr1:45287200-45307400	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:45289400-45307600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:45292400-45308200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:45294000-45308200	Weak transcription	Gastric	stomach
6	chr1:45295400-45308400	Weak transcription	Right Ventricle	heart
7	chr1:45295800-45305600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:45295800-45308000	Weak transcription	Brain Germinal Matrix	brain
9	chr1:45296000-45307600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:45298000-45308200	Weak transcription	Spleen	Spleen
11	chr1:45298800-45308200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:45301800-45307400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:45302000-45306400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:45302000-45307200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:45302000-45307400	Weak transcription	Brain Anterior Caudate	brain
16	chr1:45302000-45307400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:45302000-45307600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:45302000-45307600	Weak transcription	K562	blood
19	chr1:45302000-45308200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:45302000-45308200	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:45302000-45308200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:45302000-45308200	Weak transcription	NHDF-Ad	bronchial
23	chr1:45302000-45308200	Weak transcription	Osteobl	bone
24	chr1:45302000-45308400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:45302000-45308400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:45302000-45308400	Weak transcription	HUVEC	blood vessel
27	chr1:45302200-45307200	Weak transcription	Brain Angular Gyrus	brain
28	chr1:45302200-45308200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:45302400-45307600	Weak transcription	Fetal Intestine Small	intestine
30	chr1:45302400-45308400	Weak transcription	Right Atrium	heart
31	chr1:45302600-45307200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:45302800-45307800	Weak transcription	Fetal Kidney	kidney
33	chr1:45302800-45308200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:45302800-45308200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:45302800-45308200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:45303200-45308200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:45303800-45305600	Enhancers	HepG2	liver
38	chr1:45304600-45305600	Enhancers	Fetal Muscle Trunk	muscle
39	chr1:45304600-45305800	Enhancers	Fetal Muscle Leg	muscle
40	chr1:45304600-45305800	Genic enhancers	Fetal Stomach	stomach
41	chr1:45305200-45305600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:45305200-45305600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:45305200-45305600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:45305200-45305600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:45305200-45305600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:45305200-45305600	Enhancers	Fetal Brain Female	brain
47	chr1:45305200-45305600	Enhancers	Ovary	ovary
48	chr1:45305200-45305800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:45305200-45305800	Enhancers	Fetal Brain Male	brain
50	chr1:45305200-45305800	Enhancers	Fetal Lung	lung

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