Variant report

Variant	rs1506703
Chromosome Location	chr1:84898803-84898804
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	chr1:84894566..84897091-chr1:84898003..84900258,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10493746	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10874441	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12755232	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1340598	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1506702	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131698	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131701	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17131702	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17131707	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1827939	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1911156	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1959757	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1959758	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008711	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2105267	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2389742	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3116406	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34519183	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34760754	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35779335	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3768250	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4345821	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4907066	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61766293	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61766294	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6701340	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514800	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515554	0.82[AMR][1000 genomes]
rs7538902	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7540794	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7549128	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs959363	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv13604	chr1:84895834-84899546	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84893400-84902400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:84893600-84899000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:84893600-84899000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:84893800-84899200	Weak transcription	Stomach Mucosa	stomach
5	chr1:84895400-84899000	Weak transcription	Hela-S3	cervix
6	chr1:84895800-84899400	Weak transcription	Aorta	Aorta
7	chr1:84896400-84899000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:84896400-84899000	Weak transcription	Primary T cells from cord blood	blood
9	chr1:84896800-84899000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:84896800-84899000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:84898400-84903000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:84898800-84899000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:84898800-84899000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:84898800-84899000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:84898800-84899000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:84898800-84899000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr1:84898800-84899000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:84898800-84899000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr1:84898800-84899000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:84898800-84899000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:84898800-84899000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr1:84898800-84899000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:84898800-84899000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:84898800-84899000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:84898800-84899000	Enhancers	Brain Cingulate Gyrus	brain
26	chr1:84898800-84899000	Enhancers	Duodenum Mucosa	Duodenum
27	chr1:84898800-84899000	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr1:84898800-84899000	Enhancers	Fetal Intestine Small	intestine
29	chr1:84898800-84899000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr1:84898800-84899000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:84898800-84899000	Enhancers	Dnd41	blood
32	chr1:84898800-84899000	Enhancers	HUVEC	blood vessel
33	chr1:84898800-84899000	Enhancers	NH-A	brain
34	chr1:84898800-84899000	Enhancers	NHDF-Ad	bronchial
35	chr1:84898800-84899000	Enhancers	Osteobl	bone
36	chr1:84898800-84899200	Enhancers	Liver	Liver
37	chr1:84898800-84899600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:84898800-84899800	Active TSS	Pancreatic Islets	Pancreatic Islet

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