Variant report

Variant	rs55720813
Chromosome Location	chr1:196646993-196646994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16840397	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs479718	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55725223	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55874457	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2757766	chr1:196590837-196961802	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv428290	chr1:196590837-196961802	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv428565	chr1:196604434-196772489	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv872959	chr1:196619720-196660261	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv1010642	chr1:196629637-196874948	Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv535258	chr1:196629637-196874948	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv872962	chr1:196632470-196692659	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv872963	chr1:196635470-196649571	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	nsv872964	chr1:196635470-196660965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	nsv818733	chr1:196642233-196660261	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	nsv872965	chr1:196642233-196779888	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
16	nsv872966	chr1:196642980-196658279	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	nsv872967	chr1:196643762-196652834	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
18	esv1792035	chr1:196646261-196655743	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196628800-196679400	Weak transcription	Psoas Muscle	Psoas
2	chr1:196629200-196672600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:196639200-196647800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:196639200-196647800	Weak transcription	Ovary	ovary
5	chr1:196639200-196650000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:196639200-196657800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:196639600-196647800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:196639600-196662400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:196639800-196654200	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:196639800-196670400	Weak transcription	Adipose Nuclei	Adipose
11	chr1:196640000-196676800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:196640200-196657000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:196640800-196647000	Weak transcription	NH-A	brain
14	chr1:196641000-196650400	Strong transcription	Dnd41	blood
15	chr1:196641400-196665800	Strong transcription	Liver	Liver
16	chr1:196641800-196654800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:196642000-196652400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:196642000-196675200	Weak transcription	Fetal Stomach	stomach
19	chr1:196642200-196647000	Strong transcription	HSMM	muscle
20	chr1:196642600-196647000	Weak transcription	Osteobl	bone
21	chr1:196644400-196647800	Weak transcription	HUVEC	blood vessel
22	chr1:196644400-196648200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:196645600-196647000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:196646000-196678400	Weak transcription	K562	blood
25	chr1:196646200-196654800	Weak transcription	Esophagus	oesophagus
26	chr1:196646600-196648200	Enhancers	NHDF-Ad	bronchial
27	chr1:196646600-196648400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:196646800-196648200	Enhancers	NHLF	lung
29	chr1:196646800-196648400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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