Variant report

Variant	rs1411401
Chromosome Location	chr1:10610680-10610681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10610347..10612190-chr1:10616959..10619144,2	K562	blood:
2	chr1:10599611..10603439-chr1:10608820..10611916,3	K562	blood:
3	chr1:10604158..10605695-chr1:10610029..10612944,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10864462	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11121582	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11121583	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11121592	0.87[EUR][1000 genomes]
rs11121595	0.80[AFR][1000 genomes]
rs11580310	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11585463	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11587326	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs11588374	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11588734	0.93[CEU][hapmap];1.00[MEX][hapmap]
rs12063765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075572	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12077637	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12083820	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs12738718	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17412703	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs34106242	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34697250	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6702343	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7552996	0.94[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.82[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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
2	chr1:10591000-10639400	Weak transcription	Hela-S3	cervix
3	chr1:10591400-10629200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:10591600-10616000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:10592200-10615800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:10598600-10621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:10600000-10615600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:10600000-10615800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:10600000-10619600	Weak transcription	Brain Substantia Nigra	brain
10	chr1:10600200-10614800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:10600200-10615800	Weak transcription	HSMM	muscle
12	chr1:10601000-10613000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:10601200-10613400	Weak transcription	Osteobl	bone
14	chr1:10601200-10619600	Weak transcription	Brain Anterior Caudate	brain
15	chr1:10601400-10611000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:10601400-10611000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:10601400-10615600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:10601800-10613200	Weak transcription	K562	blood
19	chr1:10601800-10613400	Weak transcription	Right Ventricle	heart
20	chr1:10602000-10610800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:10602000-10610800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:10602000-10611400	Weak transcription	Ovary	ovary
23	chr1:10602000-10612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:10602000-10612800	Weak transcription	Fetal Thymus	thymus
25	chr1:10602000-10613000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:10602000-10613200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:10602000-10615600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:10602000-10615600	Weak transcription	HMEC	breast
29	chr1:10602000-10616200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:10602000-10619400	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:10602000-10639600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:10602200-10615600	Weak transcription	Placenta	Placenta
33	chr1:10602200-10615600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:10602400-10613000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:10602400-10613200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:10602400-10613200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:10602400-10613600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:10602400-10615600	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:10602400-10616000	Weak transcription	Adipose Nuclei	Adipose
40	chr1:10602600-10613200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:10602600-10615400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:10602600-10615600	Weak transcription	HSMMtube	muscle
43	chr1:10602600-10619400	Weak transcription	NHEK	skin
44	chr1:10602600-10624000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:10602800-10615800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:10603000-10611400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr1:10603000-10659000	Weak transcription	Primary B cells from cord blood	blood
48	chr1:10603200-10610800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:10603200-10615800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:10603800-10616000	Weak transcription	Spleen	Spleen

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