Variant report

Variant	rs502421
Chromosome Location	chr1:76590747-76590748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76590552..76592977-chr1:76595661..76598388,2	K562	blood:
2	chr1:76584811..76587020-chr1:76588977..76591542,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1631357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs188333	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs289690	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs289698	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs289699	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs291066	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs447383	1.00[CHB][hapmap];0.86[YRI][hapmap];0.92[ASN][1000 genomes]
rs551954	0.92[ASN][1000 genomes]
rs613909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61558985	0.92[ASN][1000 genomes]
rs622212	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs643289	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs817822	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871862	chr1:76525783-76598209	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv522056	chr1:76573614-76598209	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1488	chr1:76587622-76632635	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76557400-76605800	Weak transcription	Fetal Intestine Small	intestine
2	chr1:76575400-76606000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:76576400-76591000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:76576600-76620000	Weak transcription	Primary B cells from cord blood	blood
5	chr1:76577000-76590800	Weak transcription	Brain Substantia Nigra	brain
6	chr1:76579400-76590800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:76579800-76590800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:76581800-76596200	Weak transcription	Fetal Intestine Large	intestine
9	chr1:76587200-76590800	Weak transcription	Brain Anterior Caudate	brain
10	chr1:76587800-76591600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:76587800-76592400	Weak transcription	Gastric	stomach
12	chr1:76587800-76593400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:76587800-76602800	Weak transcription	Right Atrium	heart
14	chr1:76588200-76615600	Weak transcription	Left Ventricle	heart
15	chr1:76588400-76591000	Weak transcription	Fetal Lung	lung
16	chr1:76588400-76594200	Weak transcription	Right Ventricle	heart
17	chr1:76588600-76594200	Weak transcription	Aorta	Aorta
18	chr1:76590000-76590800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:76590000-76593200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:76590000-76594400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:76590000-76595400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:76590200-76593800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:76590200-76593800	Weak transcription	Lung	lung
24	chr1:76590200-76594000	Enhancers	Brain Hippocampus Middle	brain
25	chr1:76590200-76595600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:76590400-76591200	Weak transcription	Fetal Kidney	kidney

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