Variant report

Variant	rs2172958
Chromosome Location	chr1:62105184-62105185
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62104103..62106324-chr1:62108881..62110470,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1320528	1.00[EUR][1000 genomes]
rs17122575	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17122627	1.00[EUR][1000 genomes]
rs60613275	1.00[EUR][1000 genomes]
rs61568748	1.00[EUR][1000 genomes]
rs6587936	1.00[EUR][1000 genomes]
rs72923617	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72923619	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7535499	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers 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	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS 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	6 gene(s)	inside rSNPs	diseases
5	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS 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
6	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1007318	chr1:62083960-62113102	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv1831777	chr1:62086216-62119201	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv508226	chr1:62091093-62140604	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv546377	chr1:62103021-62116913	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62102600-62106600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr1:62102600-62107000	Enhancers	Ovary	ovary
3	chr1:62102800-62106000	Enhancers	Adipose Nuclei	Adipose
4	chr1:62102800-62106400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:62102800-62107200	Weak transcription	Stomach Mucosa	stomach
6	chr1:62103000-62106400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:62103000-62107200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:62103000-62107200	Weak transcription	HUVEC	blood vessel
9	chr1:62103200-62106200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:62103200-62106600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:62103400-62108000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:62103400-62146400	Weak transcription	Gastric	stomach
13	chr1:62103600-62105400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:62103800-62105400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:62103800-62107400	Enhancers	Aorta	Aorta
16	chr1:62103800-62108000	Enhancers	Fetal Stomach	stomach
17	chr1:62103800-62108000	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:62104200-62105200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:62104400-62107000	Enhancers	Stomach Smooth Muscle	stomach
20	chr1:62104400-62108400	Enhancers	Fetal Muscle Leg	muscle
21	chr1:62104600-62105200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr1:62104600-62105800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:62104600-62106400	Enhancers	Colon Smooth Muscle	Colon
24	chr1:62104600-62106600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:62104600-62106800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr1:62104600-62107000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:62104800-62105200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:62104800-62105200	Enhancers	Fetal Heart	heart
29	chr1:62104800-62105200	Enhancers	Left Ventricle	heart
30	chr1:62104800-62105200	Enhancers	Lung	lung
31	chr1:62104800-62105200	Enhancers	Right Atrium	heart
32	chr1:62104800-62107200	Weak transcription	NHDF-Ad	bronchial
33	chr1:62105000-62105200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:62105000-62105200	Enhancers	Brain Germinal Matrix	brain
35	chr1:62105000-62105200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:62105000-62105200	Enhancers	Colonic Mucosa	Colon
37	chr1:62105000-62105200	Enhancers	Esophagus	oesophagus
38	chr1:62105000-62105200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:62105000-62105800	Enhancers	Fetal Lung	lung
40	chr1:62105000-62106800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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