Variant report

Variant	rs504388
Chromosome Location	chr1:78539951-78539952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78538139..78539994-chr1:78542877..78545803,2	K562	blood:
2	chr1:78538964..78540901-chr1:78545942..78548029,2	K562	blood:
3	chr1:78467630..78472853-chr1:78532033..78539967,9	K562	blood:
4	chr1:78534641..78538084-chr1:78538744..78543341,4	K562	blood:
5	chr1:78468499..78472700-chr1:78534079..78541186,10	K562	blood:

Variant related genes	Relation type
ENSG00000162616	Chromatin interaction
ENSG00000273338	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1001070	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1001103	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1001104	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10437022	0.83[AMR][1000 genomes]
rs10873960	0.83[AMR][1000 genomes]
rs1335481	0.86[AMR][1000 genomes]
rs1855704	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1971368	0.86[AMR][1000 genomes]
rs4370803	0.83[AMR][1000 genomes]
rs5001389	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568497	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs628451	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638335	1.00[ASN][1000 genomes]
rs6424650	0.83[AMR][1000 genomes]
rs6424660	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6424664	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6424666	0.82[AMR][1000 genomes]
rs6424668	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs661038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662330	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs664818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656888	0.83[AMR][1000 genomes]
rs6677890	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684579	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs693127	0.84[AMR][1000 genomes]
rs7514007	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531525	0.82[AMR][1000 genomes]
rs7538210	0.86[AMR][1000 genomes]
rs9730688	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv870608	chr1:78520822-78594286	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78534600-78542000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:78534800-78547200	Weak transcription	Fetal Intestine Large	intestine
3	chr1:78534800-78552400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:78535000-78544000	Weak transcription	HepG2	liver
5	chr1:78535000-78566800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:78535200-78541400	Weak transcription	Fetal Heart	heart
7	chr1:78535200-78554600	Weak transcription	Fetal Intestine Small	intestine
8	chr1:78535600-78541200	Enhancers	HUVEC	blood vessel
9	chr1:78537000-78540000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:78537600-78545000	Weak transcription	Right Ventricle	heart
11	chr1:78537800-78541800	Weak transcription	Left Ventricle	heart
12	chr1:78538200-78540800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:78538200-78541000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:78538200-78541400	Weak transcription	NHLF	lung
15	chr1:78538200-78544000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:78538200-78544000	Weak transcription	Psoas Muscle	Psoas
17	chr1:78538200-78544000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:78538200-78545000	Weak transcription	NH-A	brain
19	chr1:78538200-78547800	Weak transcription	HSMMtube	muscle
20	chr1:78538400-78544000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:78538400-78544200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:78539200-78540200	Enhancers	NHDF-Ad	bronchial
23	chr1:78539800-78544000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:78539800-78544400	Weak transcription	Adipose Nuclei	Adipose

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