Variant report

Variant	rs3860348
Chromosome Location	chr1:95284222-95284223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10782992	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10782993	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10874894	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1146458	1.00[ASN][1000 genomes]
rs2893277	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3860339	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3860345	1.00[ASN][1000 genomes]
rs3860349	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3904553	1.00[ASN][1000 genomes]
rs3904554	1.00[ASN][1000 genomes]
rs3916208	1.00[ASN][1000 genomes]
rs3916432	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3936924	0.83[AMR][1000 genomes]
rs4847359	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6541370	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6541372	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6665321	1.00[ASN][1000 genomes]
rs6702030	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7528707	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7543977	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9432373	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 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	chr1:95258200-95284800	Weak transcription	Gastric	stomach
2	chr1:95268200-95285000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:95270000-95285000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:95270400-95284800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:95272400-95285000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:95272600-95284800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:95272600-95284800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:95272600-95285400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:95274800-95285200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:95275200-95285400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:95279400-95284800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:95279600-95284800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:95280000-95285400	Weak transcription	Esophagus	oesophagus
14	chr1:95282800-95285200	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:95283000-95285000	Weak transcription	Small Intestine	intestine
16	chr1:95283400-95284800	Enhancers	HepG2	liver
17	chr1:95283600-95285200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:95283800-95284400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:95283800-95284800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:95283800-95285000	Weak transcription	Stomach Mucosa	stomach
21	chr1:95283800-95287600	Active TSS	Fetal Intestine Large	intestine
22	chr1:95284000-95284600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:95284000-95285000	Weak transcription	Fetal Heart	heart
24	chr1:95284200-95284600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:95284200-95285000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr1:95284200-95288000	Active TSS	Fetal Intestine Small	intestine

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