Variant report

Variant	rs59489266
Chromosome Location	chr1:213155867-213155868
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213153525..213156288-chr1:213157594..213160257,3	K562	blood:
2	chr1:213155649..213157570-chr1:213160217..213162394,2	MCF-7	breast:
3	chr1:213145484..213147806-chr1:213154081..213156986,2	K562	blood:
4	chr1:213143678..213151221-chr1:213151923..213156487,9	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11802593	0.91[ASN][1000 genomes]
rs11809007	0.83[ASN][1000 genomes]
rs17020062	0.82[ASN][1000 genomes]
rs3123306	0.91[ASN][1000 genomes]
rs3738804	0.81[ASN][1000 genomes]
rs41277160	0.91[EUR][1000 genomes]
rs41277162	0.91[EUR][1000 genomes]
rs41309631	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs41309633	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs57352598	0.88[EUR][1000 genomes]
rs58256189	0.81[ASN][1000 genomes]
rs58482452	0.88[EUR][1000 genomes]
rs58711222	0.94[EUR][1000 genomes]
rs58879807	0.81[ASN][1000 genomes]
rs59635750	0.94[EUR][1000 genomes]
rs59676624	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs59755371	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs59892045	0.88[EUR][1000 genomes]
rs60415266	0.94[EUR][1000 genomes]
rs60620122	0.83[ASN][1000 genomes]
rs61385792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61583935	0.82[ASN][1000 genomes]
rs61832425	1.00[AFR][1000 genomes]
rs61832429	1.00[AFR][1000 genomes]
rs61832430	0.82[ASN][1000 genomes]
rs61832431	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs61832432	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs61832433	0.82[ASN][1000 genomes]
rs61832439	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs61832445	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61832447	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61834072	0.87[AMR][1000 genomes]
rs7554696	0.87[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	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv11434	chr1:213131581-213156027	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213133600-213161600	Weak transcription	Fetal Intestine Large	intestine
2	chr1:213146600-213157200	Genic enhancers	Fetal Muscle Leg	muscle
3	chr1:213148400-213165400	Weak transcription	Fetal Kidney	kidney
4	chr1:213149800-213156000	Genic enhancers	Fetal Muscle Trunk	muscle
5	chr1:213150400-213163000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:213151600-213156200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr1:213151600-213167800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:213151800-213157000	Enhancers	HSMMtube	muscle
9	chr1:213151800-213169400	Weak transcription	Colonic Mucosa	Colon
10	chr1:213152200-213156000	Enhancers	Psoas Muscle	Psoas
11	chr1:213152400-213156000	Genic enhancers	Fetal Stomach	stomach
12	chr1:213152600-213156200	Enhancers	Placenta	Placenta
13	chr1:213152600-213161400	Weak transcription	Fetal Intestine Small	intestine
14	chr1:213152600-213162400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:213152800-213156000	Enhancers	Fetal Heart	heart
16	chr1:213152800-213156200	Enhancers	HSMM	muscle
17	chr1:213153000-213156200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:213153200-213156000	Enhancers	Brain Hippocampus Middle	brain
19	chr1:213153200-213156000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:213153200-213156200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:213153400-213156000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:213153400-213156000	Enhancers	Fetal Thymus	thymus
23	chr1:213153400-213173000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:213153600-213156600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:213153600-213163400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:213153800-213168600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:213153800-213170200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:213154000-213156400	Genic enhancers	GM12878-XiMat	blood
29	chr1:213154000-213164600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:213154000-213165000	Weak transcription	Brain Substantia Nigra	brain
31	chr1:213154200-213156200	Enhancers	Fetal Brain Male	brain
32	chr1:213154200-213156200	Enhancers	Pancreas	Pancrea
33	chr1:213154200-213167000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:213154400-213156000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:213154400-213161000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:213154400-213167600	Weak transcription	Adipose Nuclei	Adipose
37	chr1:213154400-213178200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:213154600-213170200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:213154600-213187400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:213154800-213156200	Enhancers	Brain Germinal Matrix	brain
41	chr1:213154800-213156600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr1:213154800-213167600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:213154800-213177400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:213154800-213178200	Weak transcription	Brain Angular Gyrus	brain
45	chr1:213154800-213188000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:213154800-213188400	Weak transcription	Spleen	Spleen
47	chr1:213155000-213156000	Enhancers	Right Atrium	heart
48	chr1:213155000-213156400	Enhancers	Brain Anterior Caudate	brain
49	chr1:213155000-213157800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:213155000-213168400	Weak transcription	Rectal Mucosa Donor 29	rectum

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