Variant report

Variant	rs10493311
Chromosome Location	chr1:62147149-62147150
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	chr1:61273051..61275172-chr1:62146602..62149246,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11539585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11802679	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11805607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13375232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1353424	1.00[EUR][1000 genomes]
rs17122675	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17122684	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17122726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17122742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1890262	1.00[EUR][1000 genomes]
rs2051137	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57862885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57901641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61285999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6678289	0.89[ASW][hapmap];1.00[TSI][hapmap]
rs6698090	1.00[EUR][1000 genomes]
rs72925623	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72925628	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72925658	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72925685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72925687	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72927617	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72927635	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544197	1.00[EUR][1000 genomes]
rs7551993	1.00[EUR][1000 genomes]
rs7554012	0.89[ASW][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[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	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv947264	chr1:62146171-62151947	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62120400-62148200	Weak transcription	Aorta	Aorta
2	chr1:62126000-62148800	Weak transcription	Left Ventricle	heart
3	chr1:62126000-62165200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:62131600-62151400	Weak transcription	Lung	lung
5	chr1:62131600-62163800	Weak transcription	Thymus	Thymus
6	chr1:62134800-62164400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:62134800-62164400	Weak transcription	Right Ventricle	heart
8	chr1:62135000-62165000	Weak transcription	Brain Germinal Matrix	brain
9	chr1:62136000-62151200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:62136000-62153400	Weak transcription	NHDF-Ad	bronchial
11	chr1:62136600-62151800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:62136800-62173800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:62138600-62148000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:62138800-62189600	Weak transcription	Psoas Muscle	Psoas
15	chr1:62140000-62189000	Weak transcription	NHLF	lung
16	chr1:62140200-62163800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:62142200-62149400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:62142600-62147400	Weak transcription	Brain Anterior Caudate	brain
19	chr1:62142800-62148200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:62142800-62149400	Weak transcription	Small Intestine	intestine
21	chr1:62142800-62157800	Weak transcription	A549	lung
22	chr1:62142800-62172200	Weak transcription	Ovary	ovary
23	chr1:62142800-62188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:62143000-62147400	Weak transcription	Fetal Intestine Small	intestine
25	chr1:62143000-62148200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:62143000-62151200	Weak transcription	Fetal Stomach	stomach
27	chr1:62143200-62157800	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:62143200-62164000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:62143400-62153000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr1:62143600-62163400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:62143800-62148200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:62143800-62152600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:62143800-62165600	Weak transcription	Stomach Mucosa	stomach
34	chr1:62143800-62170200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:62144000-62147400	Weak transcription	Fetal Kidney	kidney
36	chr1:62144000-62153000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr1:62144200-62150200	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:62144200-62162800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:62144600-62147800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:62144600-62163800	Weak transcription	Spleen	Spleen
41	chr1:62144600-62164800	Weak transcription	Fetal Brain Female	brain
42	chr1:62144600-62165000	Weak transcription	Brain Substantia Nigra	brain
43	chr1:62144600-62165600	Weak transcription	HepG2	liver
44	chr1:62144800-62153000	Strong transcription	Liver	Liver
45	chr1:62144800-62161400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:62144800-62161600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:62144800-62163000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:62144800-62164400	Weak transcription	Fetal Brain Male	brain
49	chr1:62145000-62147800	Weak transcription	Dnd41	blood
50	chr1:62145000-62151000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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