Variant report

Variant	rs983948
Chromosome Location	chr1:224729546-224729547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224726920..224729754-chr1:224737664..224739555,2	K562	blood:
2	chr1:224726104..224729814-chr1:224730643..224733087,3	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10799582	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10916635	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10916636	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10916637	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10916638	0.90[EUR][1000 genomes]
rs10916639	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10916640	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12033478	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12043625	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12057775	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12062991	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12068420	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12072482	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1317810	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1499283	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16849369	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2050625	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2794804	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2794808	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4654047	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61825839	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61825840	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61825841	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6656824	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs698277	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698280	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs712068	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs712070	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs712071	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs712072	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs712073	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs712074	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs712075	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs712076	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs712082	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs712084	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712085	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs712087	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs712092	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7541415	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs791391	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs791393	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs791508	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs791509	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs791510	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs791511	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs791512	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs880368	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs985301	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs989755	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224712000-224730800	Weak transcription	Spleen	Spleen
2	chr1:224725200-224730400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:224726800-224732400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:224727200-224729800	Enhancers	NH-A	brain
5	chr1:224727200-224731600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:224727200-224731600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr1:224727400-224729800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:224727400-224730800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:224727400-224731400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:224727600-224730200	Enhancers	HUVEC	blood vessel
11	chr1:224727600-224731000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:224727600-224731600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:224727600-224731600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:224727600-224732800	Enhancers	HMEC	breast
15	chr1:224727800-224730400	Enhancers	Osteobl	bone
16	chr1:224727800-224731600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:224727800-224731800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:224728000-224730600	Weak transcription	Pancreas	Pancrea
19	chr1:224728200-224729600	Enhancers	Primary hematopoietic stem cells	blood
20	chr1:224728200-224729600	Weak transcription	Brain Anterior Caudate	brain
21	chr1:224728200-224729800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:224728200-224729800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:224728200-224729800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:224728200-224730800	Enhancers	NHDF-Ad	bronchial
25	chr1:224728200-224732600	Enhancers	HSMM	muscle
26	chr1:224728400-224732800	Enhancers	Dnd41	blood
27	chr1:224728600-224729600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:224728600-224729600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:224728600-224730800	Weak transcription	Adipose Nuclei	Adipose
30	chr1:224728800-224730400	Enhancers	NHLF	lung
31	chr1:224729000-224730200	Enhancers	Brain Angular Gyrus	brain
32	chr1:224729000-224730800	Enhancers	Brain Substantia Nigra	brain
33	chr1:224729000-224730800	Enhancers	NHEK	skin
34	chr1:224729000-224731000	Enhancers	Hela-S3	cervix
35	chr1:224729000-224731600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:224729000-224732400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr1:224729000-224733000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:224729200-224730000	Enhancers	Brain Hippocampus Middle	brain
39	chr1:224729200-224730200	Enhancers	Brain Cingulate Gyrus	brain
40	chr1:224729200-224730400	Weak transcription	Fetal Lung	lung
41	chr1:224729200-224730800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:224729200-224732000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:224729200-224732600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:224729400-224729600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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