Variant report

Variant	rs12644620
Chromosome Location	chr4:124518884-124518885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12643847	1.00[ASN][1000 genomes]
rs12644121	1.00[ASN][1000 genomes]
rs12644228	1.00[ASN][1000 genomes]
rs12646555	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17006935	1.00[EUR][1000 genomes]
rs17007024	0.80[ASN][1000 genomes]
rs17007051	0.93[ASN][1000 genomes]
rs28827850	1.00[ASN][1000 genomes]
rs57111794	1.00[ASN][1000 genomes]
rs57235450	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57904792	0.89[ASN][1000 genomes]
rs57940178	0.93[ASN][1000 genomes]
rs58280008	1.00[ASN][1000 genomes]
rs58535348	0.85[ASN][1000 genomes]
rs59621223	0.89[ASN][1000 genomes]
rs59791195	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60096196	0.96[ASN][1000 genomes]
rs60289595	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60795072	0.96[ASN][1000 genomes]
rs6534417	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv879871	chr4:124437842-124527958	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv879872	chr4:124441989-124527958	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv469710	chr4:124474286-124623722	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv482747	chr4:124474286-124623722	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124506400-124519600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:124506600-124521200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:124510400-124519800	Weak transcription	Small Intestine	intestine
4	chr4:124510600-124519000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:124510600-124519400	Weak transcription	HepG2	liver
6	chr4:124510600-124521200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:124514000-124519400	Weak transcription	Fetal Intestine Large	intestine
8	chr4:124515200-124520000	Weak transcription	K562	blood
9	chr4:124515600-124520200	Weak transcription	HUVEC	blood vessel
10	chr4:124517400-124521200	Weak transcription	Fetal Brain Male	brain
11	chr4:124517800-124520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:124518200-124519400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:124518200-124519600	Enhancers	NHEK	skin
14	chr4:124518200-124521400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:124518200-124522000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:124518200-124522000	Enhancers	HMEC	breast
17	chr4:124518200-124524600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:124518400-124519400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:124518400-124519400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:124518400-124521400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:124518400-124521400	Enhancers	Primary T cells from cord blood	blood
22	chr4:124518400-124521600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:124518600-124519400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:124518600-124521000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:124518600-124522200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:124518800-124519000	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:124518800-124519000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:124518800-124519000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr4:124518800-124523200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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