Variant report

Variant	rs7514059
Chromosome Location	chr1:157986019-157986020
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17418759	1.00[EUR][1000 genomes]
rs4971173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6659171	0.87[AFR][1000 genomes]
rs6661931	0.84[AFR][1000 genomes]
rs73018972	1.00[EUR][1000 genomes]
rs7521855	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7527643	1.00[EUR][1000 genomes]
rs9628667	1.00[AMR][1000 genomes];1.00[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	esv1823720	chr1:157978556-158034017	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157969000-157988000	Weak transcription	Psoas Muscle	Psoas
2	chr1:157975400-157996800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:157979800-157991000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:157981200-157987200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:157981600-157986600	Weak transcription	Pancreas	Pancrea
6	chr1:157981600-157988200	Weak transcription	Right Ventricle	heart
7	chr1:157981800-157986600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:157981800-157988000	Weak transcription	Colonic Mucosa	Colon
9	chr1:157982200-157986400	Weak transcription	Spleen	Spleen
10	chr1:157982200-157987800	Weak transcription	Fetal Heart	heart
11	chr1:157982200-157988200	Weak transcription	Fetal Intestine Large	intestine
12	chr1:157982200-157989200	Enhancers	Osteobl	bone
13	chr1:157982400-157991000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:157982800-157986200	Weak transcription	HUVEC	blood vessel
15	chr1:157983000-157987000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:157983200-157989000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:157983400-157986400	Enhancers	A549	lung
18	chr1:157983400-157989200	Enhancers	Adipose Nuclei	Adipose
19	chr1:157983600-157986400	Enhancers	NHDF-Ad	bronchial
20	chr1:157983600-157987400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:157983600-157989000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:157983800-157993200	Enhancers	Fetal Kidney	kidney
23	chr1:157984000-157988000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:157984000-157989000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:157984200-157987000	Enhancers	Right Atrium	heart
26	chr1:157984200-157988200	Weak transcription	Fetal Intestine Small	intestine
27	chr1:157984400-157986400	Weak transcription	Fetal Lung	lung
28	chr1:157984400-157986400	Weak transcription	Left Ventricle	heart
29	chr1:157984400-157986800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:157984400-157986800	Enhancers	NHLF	lung
31	chr1:157984400-157989200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr1:157984400-157995400	Weak transcription	Fetal Brain Female	brain
33	chr1:157984600-157986400	Weak transcription	Aorta	Aorta
34	chr1:157985000-157989800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:157985200-157986600	Weak transcription	Esophagus	oesophagus
36	chr1:157985200-157987200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:157985200-157988200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:157985200-157989200	Weak transcription	Fetal Brain Male	brain
39	chr1:157985200-157993200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:157985200-157995000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:157985200-158006000	Weak transcription	Fetal Thymus	thymus
42	chr1:157985400-157986200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:157985400-157986200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:157985400-157986200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:157985400-157986200	Weak transcription	Fetal Stomach	stomach
46	chr1:157985400-157986200	Weak transcription	HSMM	muscle
47	chr1:157985400-157986400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:157985400-157986400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:157985400-157986400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:157985400-157986400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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