Variant report

Variant	rs72756439
Chromosome Location	chr1:209525452-209525453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209522778..209525739-chr1:209526062..209527783,2	MCF-7	breast:
2	chr1:209524634..209532045-chr1:209599866..209610404,18	MCF-7	breast:
3	chr1:209501366..209503454-chr1:209524824..209527553,2	K562	blood:

Variant related genes	Relation type
ENSG00000230937	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1395749	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1395750	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1542981	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1553623	0.84[ASN][1000 genomes]
rs17188128	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17188142	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2245283	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2245287	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2489649	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2489650	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2660637	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2843169	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56375933	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6700119	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72756413	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72756445	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs976940	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209522800-209527600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:209522800-209529200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:209523000-209529000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:209523200-209526400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:209523200-209527000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:209523200-209527400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:209523200-209527400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:209523200-209527600	Weak transcription	Fetal Kidney	kidney
9	chr1:209523200-209527800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:209523200-209528000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:209523400-209527200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:209523400-209527400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:209523400-209527400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:209523400-209527400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:209523400-209527400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:209523400-209527400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:209523400-209527400	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:209523400-209527400	Weak transcription	HSMM	muscle
19	chr1:209523400-209529000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:209523800-209527800	Weak transcription	Osteobl	bone
21	chr1:209524000-209527400	Weak transcription	Fetal Lung	lung
22	chr1:209524200-209527400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:209524200-209527400	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:209524600-209527200	Weak transcription	Fetal Stomach	stomach
25	chr1:209524600-209527400	Weak transcription	Fetal Heart	heart
26	chr1:209524800-209528000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:209525000-209527400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:209525000-209527600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:209525000-209527600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:209525000-209528800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:209525200-209527600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:209525200-209529800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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