Variant report

Variant	rs7519520
Chromosome Location	chr1:221068808-221068809
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2807861	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2807866	0.81[YRI][hapmap]
rs6541166	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73108353	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1798350	chr1:221020278-221069740	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221066200-221070000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:221067400-221069000	Bivalent Enhancer	Fetal Brain Male	brain
3	chr1:221067400-221069800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:221067400-221069800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr1:221067400-221070400	Active TSS	Colon Smooth Muscle	Colon
6	chr1:221067600-221069200	Bivalent Enhancer	Fetal Heart	heart
7	chr1:221067800-221069200	ZNF genes & repeats	Spleen	Spleen
8	chr1:221068200-221069200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:221068200-221069200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:221068200-221069200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
11	chr1:221068200-221069200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:221068200-221069200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr1:221068200-221069200	Enhancers	Pancreas	Pancrea
14	chr1:221068200-221069600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:221068200-221069800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:221068200-221070200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:221068400-221069000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr1:221068400-221069000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr1:221068400-221069000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:221068600-221069000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:221068800-221069000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr1:221068800-221069000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:221068800-221069000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
24	chr1:221068800-221069200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:221068800-221069200	Bivalent Enhancer	Brain Germinal Matrix	brain
26	chr1:221068800-221069200	Bivalent Enhancer	Fetal Thymus	thymus
27	chr1:221068800-221069200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
28	chr1:221068800-221069400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
29	chr1:221068800-221069400	Bivalent Enhancer	Fetal Stomach	stomach
30	chr1:221068800-221070000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr1:221068800-221070200	Bivalent Enhancer	Fetal Muscle Leg	muscle

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