Variant report

Variant	rs7530600
Chromosome Location	chr1:213154689-213154690
allele	A/G
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	chr1:213145484..213147806-chr1:213154081..213156986,2	K562	blood:
3	chr1:213143678..213151221-chr1:213151923..213156487,9	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55675185	0.95[EUR][1000 genomes]
rs57769829	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6540772	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6688043	0.85[AMR][1000 genomes];0.86[EUR][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:83 , 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	chr1:213148400-213155400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:213148400-213165400	Weak transcription	Fetal Kidney	kidney
5	chr1:213149800-213156000	Genic enhancers	Fetal Muscle Trunk	muscle
6	chr1:213150400-213163000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:213150800-213155400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:213151600-213156200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr1:213151600-213167800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:213151800-213157000	Enhancers	HSMMtube	muscle
11	chr1:213151800-213169400	Weak transcription	Colonic Mucosa	Colon
12	chr1:213152200-213155600	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:213152200-213156000	Enhancers	Psoas Muscle	Psoas
14	chr1:213152400-213155200	Enhancers	Right Ventricle	heart
15	chr1:213152400-213156000	Genic enhancers	Fetal Stomach	stomach
16	chr1:213152600-213156200	Enhancers	Placenta	Placenta
17	chr1:213152600-213161400	Weak transcription	Fetal Intestine Small	intestine
18	chr1:213152600-213162400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:213152800-213156000	Enhancers	Fetal Heart	heart
20	chr1:213152800-213156200	Enhancers	HSMM	muscle
21	chr1:213153000-213154800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:213153000-213155200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:213153000-213155600	Enhancers	Left Ventricle	heart
24	chr1:213153000-213156200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:213153200-213155600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:213153200-213155800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:213153200-213156000	Enhancers	Brain Hippocampus Middle	brain
28	chr1:213153200-213156000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:213153200-213156200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:213153400-213154800	Enhancers	Brain Angular Gyrus	brain
31	chr1:213153400-213155000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:213153400-213155600	Enhancers	Lung	lung
33	chr1:213153400-213156000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:213153400-213156000	Enhancers	Fetal Thymus	thymus
35	chr1:213153400-213173000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:213153600-213154800	Enhancers	Colon Smooth Muscle	Colon
37	chr1:213153600-213155400	Enhancers	Fetal Lung	lung
38	chr1:213153600-213155600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:213153600-213155800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:213153600-213156600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr1:213153600-213163400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:213153800-213154800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:213153800-213155000	Weak transcription	Brain Anterior Caudate	brain
44	chr1:213153800-213155200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:213153800-213155200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:213153800-213168600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr1:213153800-213170200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:213154000-213154800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr1:213154000-213155200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:213154000-213155200	Enhancers	Stomach Mucosa	stomach

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