Variant report

Variant	rs7525940
Chromosome Location	chr1:213226799-213226800
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	chr1:213187470..213190491-chr1:213226367..213230214,4	K562	blood:

Variant related genes	Relation type
ENSG00000174606	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10157273	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11810428	0.86[EUR][1000 genomes]
rs41277158	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57592821	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs59666456	0.94[AFR][1000 genomes]
rs60294869	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6540771	0.96[AMR][1000 genomes]
rs6540775	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6692011	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6694156	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7516436	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7520067	0.96[AMR][1000 genomes];0.86[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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213224800-213227000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:213225200-213253400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:213225200-213254400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:213225400-213227000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:213225400-213227800	Enhancers	Fetal Lung	lung
6	chr1:213225400-213228400	Weak transcription	Gastric	stomach
7	chr1:213225400-213229600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:213225400-213229600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:213225400-213254000	Weak transcription	Aorta	Aorta
10	chr1:213225400-213254000	Weak transcription	Left Ventricle	heart
11	chr1:213225400-213256600	Weak transcription	Ovary	ovary
12	chr1:213225600-213227000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:213225600-213227200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:213225600-213227200	Enhancers	Brain Germinal Matrix	brain
15	chr1:213225600-213227400	Enhancers	Brain Hippocampus Middle	brain
16	chr1:213225600-213228200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:213225600-213228200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:213225600-213228400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:213225600-213229400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:213225600-213229800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:213225600-213229800	Weak transcription	Fetal Intestine Small	intestine
22	chr1:213225600-213234000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:213225600-213236000	Weak transcription	Right Atrium	heart
24	chr1:213225600-213243600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:213225600-213244000	Weak transcription	HSMM	muscle
26	chr1:213225800-213226800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:213225800-213226800	Enhancers	Adipose Nuclei	Adipose
28	chr1:213225800-213226800	Enhancers	Colon Smooth Muscle	Colon
29	chr1:213225800-213226800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr1:213225800-213227000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:213225800-213227000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr1:213225800-213227000	Enhancers	Hela-S3	cervix
33	chr1:213225800-213227200	Enhancers	Dnd41	blood
34	chr1:213225800-213227400	Enhancers	Fetal Brain Male	brain
35	chr1:213225800-213227800	Weak transcription	NHEK	skin
36	chr1:213225800-213228000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:213225800-213228400	Weak transcription	Osteobl	bone
38	chr1:213225800-213228600	Weak transcription	NH-A	brain
39	chr1:213225800-213229200	Weak transcription	Brain Angular Gyrus	brain
40	chr1:213225800-213229600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:213225800-213229800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:213225800-213230200	Weak transcription	Fetal Intestine Large	intestine
43	chr1:213225800-213230200	Weak transcription	Psoas Muscle	Psoas
44	chr1:213225800-213234200	Weak transcription	Primary B cells from cord blood	blood
45	chr1:213225800-213252800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:213225800-213254000	Weak transcription	Primary T cells from cord blood	blood
47	chr1:213226000-213226800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:213226000-213226800	Flanking Active TSS	K562	blood
49	chr1:213226000-213227000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:213226000-213233200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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