Variant report

Variant	rs58711222
Chromosome Location	chr1:213156418-213156419
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs41277160	0.97[EUR][1000 genomes]
rs41277162	0.97[EUR][1000 genomes]
rs57188196	0.81[EUR][1000 genomes]
rs57352598	0.93[EUR][1000 genomes]
rs58482452	0.93[EUR][1000 genomes]
rs59489266	0.94[EUR][1000 genomes]
rs59635750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59892045	0.93[EUR][1000 genomes]
rs60415266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61385792	1.00[EUR][1000 genomes]
rs61832445	1.00[EUR][1000 genomes]
rs61832447	1.00[EUR][1000 genomes]
rs61834072	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:79 , 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	chr1:213150400-213163000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:213151600-213167800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:213151800-213157000	Enhancers	HSMMtube	muscle
7	chr1:213151800-213169400	Weak transcription	Colonic Mucosa	Colon
8	chr1:213152600-213161400	Weak transcription	Fetal Intestine Small	intestine
9	chr1:213152600-213162400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:213153400-213173000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:213153600-213156600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:213153600-213163400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:213153800-213168600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:213153800-213170200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:213154000-213164600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:213154000-213165000	Weak transcription	Brain Substantia Nigra	brain
17	chr1:213154200-213167000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:213154400-213161000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:213154400-213167600	Weak transcription	Adipose Nuclei	Adipose
20	chr1:213154400-213178200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:213154600-213170200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:213154600-213187400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:213154800-213156600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr1:213154800-213167600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:213154800-213177400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:213154800-213178200	Weak transcription	Brain Angular Gyrus	brain
27	chr1:213154800-213188000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:213154800-213188400	Weak transcription	Spleen	Spleen
29	chr1:213155000-213157800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:213155000-213168400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:213155200-213163000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:213155200-213165200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr1:213155200-213177800	Weak transcription	Right Ventricle	heart
34	chr1:213155400-213158400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:213155400-213161400	Weak transcription	Primary T cells from cord blood	blood
36	chr1:213155400-213163000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:213155400-213163200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:213155400-213165400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:213155400-213166400	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr1:213155400-213178400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:213155600-213156600	Weak transcription	Fetal Brain Female	brain
42	chr1:213155600-213158400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:213155600-213161200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:213155600-213162200	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr1:213155600-213162800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:213155600-213162800	Weak transcription	Left Ventricle	heart
47	chr1:213155600-213166400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:213155600-213168200	Weak transcription	Thymus	Thymus
49	chr1:213155600-213168800	Weak transcription	Colon Smooth Muscle	Colon
50	chr1:213155600-213169400	Weak transcription	Lung	lung

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