Variant report

Variant	rs4844473
Chromosome Location	chr1:209556688-209556689
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:209555303..209558478-chr1:209558595..209562675,4	MCF-7	breast:
2	chr1:209391225..209393243-chr1:209555461..209557168,2	MCF-7	breast:
3	chr1:209555854..209558592-chr1:209584586..209586209,2	MCF-7	breast:
4	chr1:209555442..209558217-chr1:209587307..209589261,2	MCF-7	breast:
5	chr1:209554903..209565803-chr1:209600283..209609508,22	MCF-7	breast:
6	chr1:209541024..209542920-chr1:209555785..209557291,2	MCF-7	breast:
7	chr1:209556562..209561769-chr1:209603992..209608152,7	MCF-7	breast:
8	chr1:209544095..209546472-chr1:209554799..209556925,2	MCF-7	breast:
9	chr1:209555771..209558011-chr1:209570571..209573206,2	MCF-7	breast:
10	chr1:209536970..209539628-chr1:209556097..209557753,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230937	Chromatin interaction
ENSG00000231648	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1006316	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1006317	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494921	0.80[ASN][1000 genomes]
rs12142844	0.87[AFR][1000 genomes]
rs1354850	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1354852	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1354853	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1507331	0.89[ASN][1000 genomes]
rs1507336	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17014320	0.91[ASN][1000 genomes]
rs17014323	0.91[ASN][1000 genomes]
rs17014337	0.92[ASN][1000 genomes]
rs17014370	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17014375	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17014395	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17014396	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1857967	0.80[AFR][1000 genomes]
rs4844807	0.91[ASN][1000 genomes]
rs4844809	0.91[ASN][1000 genomes]
rs4844815	0.95[ASN][1000 genomes]
rs4844820	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4844821	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55684110	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58017268	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60460414	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60534728	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6674793	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6681466	0.86[ASN][1000 genomes]
rs74155473	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7516757	0.84[ASN][1000 genomes]
rs7516864	0.81[ASN][1000 genomes]
rs7548184	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209549600-209557200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:209549800-209560400	Weak transcription	HSMM	muscle
3	chr1:209550200-209560600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:209553200-209568600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:209555200-209558800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:209555200-209561000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:209555400-209557400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:209555400-209558200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:209555400-209559200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:209555400-209559400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:209555400-209559600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:209555400-209560800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:209555400-209561000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:209555600-209556800	Enhancers	HMEC	breast
15	chr1:209555600-209564400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:209555800-209565200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:209556000-209557400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:209556000-209558000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:209556000-209558400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr1:209556200-209557000	Enhancers	Placenta	Placenta
21	chr1:209556200-209557400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr1:209556400-209556800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:209556400-209556800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:209556400-209556800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:209556400-209557400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:209556400-209558400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:209556400-209558400	Flanking Active TSS	NHEK	skin
28	chr1:209556400-209559800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:209556600-209556800	Active TSS	Osteobl	bone
30	chr1:209556600-209557000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:209556600-209557000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:209556600-209558000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr1:209556600-209558200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:209556600-209558200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:209556600-209560800	Weak transcription	Esophagus	oesophagus

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