Variant report

Variant	rs530846
Chromosome Location	chr1:172149750-172149751
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	chr1:172146908..172150355-chr1:172151675..172155662,5	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs479185	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs493630	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs493657	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs532194	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs551742	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs558496	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs609222	1.00[EUR][1000 genomes]
rs642312	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs650603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs654524	1.00[EUR][1000 genomes]
rs685039	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73039305	1.00[EUR][1000 genomes]
rs73039324	1.00[EUR][1000 genomes]
rs73039369	1.00[EUR][1000 genomes]
rs73039392	1.00[EUR][1000 genomes]
rs73043064	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	nsv1000079	chr1:172146935-172230545	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172128400-172149800	Weak transcription	Aorta	Aorta
2	chr1:172132800-172150000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:172138400-172149800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:172145800-172150000	Weak transcription	Psoas Muscle	Psoas
5	chr1:172146600-172150200	Enhancers	Stomach Mucosa	stomach
6	chr1:172146800-172152000	Enhancers	Fetal Intestine Small	intestine
7	chr1:172147400-172154000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:172147600-172151200	Enhancers	Fetal Intestine Large	intestine
9	chr1:172148000-172149800	Enhancers	Colon Smooth Muscle	Colon
10	chr1:172148200-172149800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr1:172148200-172149800	Enhancers	Duodenum Mucosa	Duodenum
12	chr1:172148800-172149800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:172148800-172149800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:172148800-172152000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr1:172149000-172149800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:172149000-172149800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:172149000-172149800	Enhancers	Fetal Kidney	kidney
18	chr1:172149000-172149800	Enhancers	Fetal Muscle Leg	muscle
19	chr1:172149000-172149800	Enhancers	Rectal Smooth Muscle	rectum
20	chr1:172149000-172149800	Enhancers	NHDF-Ad	bronchial
21	chr1:172149000-172150000	Enhancers	Primary T cells from cord blood	blood
22	chr1:172149000-172150000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:172149000-172150000	Enhancers	Brain Angular Gyrus	brain
24	chr1:172149000-172150000	Enhancers	Brain Cingulate Gyrus	brain
25	chr1:172149000-172150000	Enhancers	Brain Substantia Nigra	brain
26	chr1:172149000-172150400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:172149000-172152800	Enhancers	Fetal Stomach	stomach
28	chr1:172149200-172150000	Enhancers	Primary B cells from peripheral blood	blood
29	chr1:172149200-172150000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:172149200-172150000	Enhancers	Brain Anterior Caudate	brain
31	chr1:172149200-172150200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:172149200-172150600	Enhancers	Brain Hippocampus Middle	brain
33	chr1:172149400-172149800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:172149400-172149800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:172149400-172149800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr1:172149400-172149800	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr1:172149400-172150000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr1:172149400-172150000	Enhancers	Fetal Lung	lung
39	chr1:172149400-172150000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr1:172149400-172150000	Flanking Active TSS	GM12878-XiMat	blood
41	chr1:172149400-172150000	Enhancers	HSMM	muscle
42	chr1:172149400-172150000	Enhancers	NHLF	lung
43	chr1:172149400-172150200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr1:172149400-172150200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr1:172149400-172150200	Weak transcription	Ovary	ovary
46	chr1:172149400-172150400	Enhancers	Primary hematopoietic stem cells	blood
47	chr1:172149400-172150600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr1:172149400-172151000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:172149400-172151000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr1:172149400-172151600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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