Variant report

Variant	rs72755278
Chromosome Location	chr1:242005669-242005670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241801367..241803691-chr1:242005461..242007907,2	K562	blood:
2	chr1:241994559..242000368-chr1:242001953..242006186,6	K562	blood:
3	chr1:241910812..241913267-chr1:242003665..242006640,2	K562	blood:
4	chr1:241774151..241775699-chr1:242004811..242007727,2	K562	blood:

Variant related genes	Relation type
ENSG00000054277	Chromatin interaction
ENSG00000162843	Chromatin interaction
ENSG00000229022	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10489350	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10926577	0.86[ASN][1000 genomes]
rs10926579	0.91[ASN][1000 genomes]
rs10926580	0.98[ASN][1000 genomes]
rs11811179	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12120093	0.86[ASN][1000 genomes]
rs12120148	0.86[ASN][1000 genomes]
rs12130656	0.98[ASN][1000 genomes]
rs12132557	0.81[ASN][1000 genomes]
rs12404340	0.93[ASN][1000 genomes]
rs12564332	0.95[ASN][1000 genomes]
rs12565340	0.98[ASN][1000 genomes]
rs12568352	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1935849	0.91[ASN][1000 genomes]
rs3902093	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4658506	0.84[ASN][1000 genomes]
rs4658682	0.86[ASN][1000 genomes]
rs4658754	0.95[ASN][1000 genomes]
rs4658818	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56055063	0.98[ASN][1000 genomes]
rs58971440	0.91[ASN][1000 genomes]
rs6698254	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67425476	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72755242	0.91[ASN][1000 genomes]
rs72755245	0.95[ASN][1000 genomes]
rs9428895	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv528015	chr1:241865219-242070731	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1008300	chr1:241886514-242171611	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv2762521	chr1:241891040-242074222	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv873373	chr1:241939069-242027500	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv873374	chr1:241975147-242097624	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242001600-242010400	Weak transcription	HMEC	breast
2	chr1:242001800-242005800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:242001800-242010600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:242001800-242010800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:242003200-242005800	Weak transcription	A549	lung
6	chr1:242003200-242008200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:242003400-242010400	Weak transcription	GM12878-XiMat	blood
8	chr1:242004800-242006000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:242005000-242006400	Enhancers	HSMM	muscle
10	chr1:242005000-242006400	Enhancers	NHDF-Ad	bronchial
11	chr1:242005000-242006600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:242005200-242006000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:242005200-242006000	Enhancers	NHLF	lung
14	chr1:242005200-242006200	Enhancers	Fetal Heart	heart
15	chr1:242005200-242006400	Enhancers	Osteobl	bone
16	chr1:242005200-242006600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:242005200-242006600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:242005400-242005800	Flanking Active TSS	HSMMtube	muscle
19	chr1:242005400-242006400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:242005600-242006000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:242005600-242006000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:242005600-242006200	Enhancers	K562	blood
23	chr1:242005600-242006200	Enhancers	NHEK	skin
24	chr1:242005600-242006400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:242005600-242006400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:242005600-242006400	Enhancers	Placenta Amnion	Placenta Amnion

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