Variant report

Variant	rs7546636
Chromosome Location	chr1:56051987-56051988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4926692	0.88[ASN][1000 genomes]
rs4927258	0.92[ASN][1000 genomes]
rs60906582	1.00[ASN][1000 genomes]
rs72667887	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72910746	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv523489	chr1:56038407-56066503	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56040600-56058600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:56042200-56052400	Weak transcription	Right Atrium	heart
3	chr1:56049600-56052200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:56049600-56052400	Enhancers	Brain Germinal Matrix	brain
5	chr1:56049600-56053200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:56050000-56052600	Enhancers	Colon Smooth Muscle	Colon
7	chr1:56050600-56052000	Weak transcription	Aorta	Aorta
8	chr1:56050600-56055400	Weak transcription	Ovary	ovary
9	chr1:56050800-56052400	Weak transcription	Left Ventricle	heart
10	chr1:56050800-56052400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:56050800-56057800	Weak transcription	Right Ventricle	heart
12	chr1:56051000-56052200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:56051000-56052200	Weak transcription	HSMMtube	muscle
14	chr1:56051000-56055200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:56051000-56055200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:56051000-56055800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:56051200-56053800	Weak transcription	Fetal Lung	lung
18	chr1:56051200-56053800	Weak transcription	NHDF-Ad	bronchial
19	chr1:56051200-56054400	Weak transcription	Osteobl	bone
20	chr1:56051200-56055200	Weak transcription	Adipose Nuclei	Adipose
21	chr1:56051200-56055200	Weak transcription	HSMM	muscle
22	chr1:56051200-56055400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:56051200-56057200	Weak transcription	Fetal Heart	heart
24	chr1:56051400-56052200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:56051400-56052200	Weak transcription	Psoas Muscle	Psoas
26	chr1:56051400-56052400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:56051400-56052400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:56051400-56052600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:56051400-56053800	Weak transcription	Fetal Stomach	stomach
30	chr1:56051400-56054000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:56051400-56054000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:56051400-56055400	Weak transcription	NHLF	lung
33	chr1:56051600-56052000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:56051600-56052000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:56051600-56052000	Weak transcription	HMEC	breast
36	chr1:56051600-56052200	Weak transcription	Fetal Muscle Leg	muscle

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