Variant report

Variant	rs2183377
Chromosome Location	chr1:10610129-10610130
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	chr1:10599611..10603439-chr1:10608820..10611916,3	K562	blood:
2	chr1:10604158..10605695-chr1:10610029..10612944,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10157111	0.89[EUR][1000 genomes]
rs10157119	0.89[EUR][1000 genomes]
rs10746495	0.86[EUR][1000 genomes]
rs10779739	0.89[EUR][1000 genomes]
rs10864461	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10864463	0.89[EUR][1000 genomes]
rs10864465	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11121584	0.89[EUR][1000 genomes]
rs11121585	0.85[EUR][1000 genomes]
rs11121588	0.86[EUR][1000 genomes]
rs11121589	0.86[EUR][1000 genomes]
rs11121596	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11121597	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12033275	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12128630	0.89[EUR][1000 genomes]
rs12129678	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12403130	0.81[EUR][1000 genomes]
rs2480771	0.89[EUR][1000 genomes]
rs2480772	0.89[EUR][1000 genomes]
rs2480773	0.89[EUR][1000 genomes]
rs2480775	0.88[EUR][1000 genomes]
rs2480780	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2480781	0.84[EUR][1000 genomes]
rs2506897	0.86[EUR][1000 genomes]
rs2506898	0.86[EUR][1000 genomes]
rs2506900	0.89[EUR][1000 genomes]
rs2988398	0.85[EUR][1000 genomes]
rs2988399	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35612158	0.86[EUR][1000 genomes]
rs4240914	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4240915	0.89[EUR][1000 genomes]
rs4845936	0.86[EUR][1000 genomes]
rs4846230	0.89[EUR][1000 genomes]
rs4846231	0.89[EUR][1000 genomes]
rs4846232	0.89[EUR][1000 genomes]
rs4846233	0.89[EUR][1000 genomes]
rs58788814	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61777207	0.88[EUR][1000 genomes]
rs61777208	0.84[EUR][1000 genomes]
rs6658073	0.86[EUR][1000 genomes]
rs6681221	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6700023	0.89[EUR][1000 genomes]
rs72641424	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72641427	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7512467	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536149	0.98[ASN][1000 genomes]
rs7545184	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs944191	0.89[EUR][1000 genomes]
rs9660006	0.89[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	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv545395	chr1:10584672-10613660	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10579400-10610200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
3	chr1:10591000-10639400	Weak transcription	Hela-S3	cervix
4	chr1:10591400-10629200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:10591600-10616000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:10592200-10615800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:10598600-10621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:10600000-10615600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:10600000-10615800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:10600000-10619600	Weak transcription	Brain Substantia Nigra	brain
11	chr1:10600200-10614800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:10600200-10615800	Weak transcription	HSMM	muscle
13	chr1:10601000-10613000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:10601200-10613400	Weak transcription	Osteobl	bone
15	chr1:10601200-10619600	Weak transcription	Brain Anterior Caudate	brain
16	chr1:10601400-10610400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:10601400-10611000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:10601400-10611000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:10601400-10615600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:10601800-10613200	Weak transcription	K562	blood
21	chr1:10601800-10613400	Weak transcription	Right Ventricle	heart
22	chr1:10602000-10610200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:10602000-10610200	Weak transcription	HepG2	liver
24	chr1:10602000-10610600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:10602000-10610800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:10602000-10610800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:10602000-10611400	Weak transcription	Ovary	ovary
28	chr1:10602000-10612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:10602000-10612800	Weak transcription	Fetal Thymus	thymus
30	chr1:10602000-10613000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:10602000-10613200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:10602000-10615600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:10602000-10615600	Weak transcription	HMEC	breast
34	chr1:10602000-10616200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:10602000-10619400	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:10602000-10639600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:10602200-10615600	Weak transcription	Placenta	Placenta
38	chr1:10602200-10615600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:10602400-10610400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:10602400-10613000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:10602400-10613200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:10602400-10613200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:10602400-10613600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr1:10602400-10615600	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:10602400-10616000	Weak transcription	Adipose Nuclei	Adipose
46	chr1:10602600-10613200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:10602600-10615400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:10602600-10615600	Weak transcription	HSMMtube	muscle
49	chr1:10602600-10619400	Weak transcription	NHEK	skin
50	chr1:10602600-10624000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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