Variant report

Variant	rs28548477
Chromosome Location	chr1:153579086-153579087
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153533881..153554060-chr1:153575339..153590405,58	MCF-7	breast:
2	chr1:153504845..153507799-chr1:153578857..153580785,2	K562	blood:
3	chr1:153537828..153540550-chr1:153577854..153580339,2	K562	blood:

Variant related genes	Relation type
ENSG00000238279	Chromatin interaction
ENSG00000196754	Chromatin interaction

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

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

rs_ID	r²[population]
rs1139619	1.00[AMR][1000 genomes]
rs16835479	1.00[AMR][1000 genomes]
rs16835491	1.00[AMR][1000 genomes]
rs28539240	1.00[AMR][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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153560400-153580000	Weak transcription	Right Atrium	heart
2	chr1:153565800-153580400	Weak transcription	Brain Anterior Caudate	brain
3	chr1:153565800-153580400	Weak transcription	Fetal Kidney	kidney
4	chr1:153566800-153579200	Weak transcription	Aorta	Aorta
5	chr1:153570400-153579800	Weak transcription	HepG2	liver
6	chr1:153571400-153580000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:153571600-153579200	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:153571600-153579400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:153572400-153579200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:153572400-153579400	Weak transcription	Placenta	Placenta
11	chr1:153572400-153579600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:153572400-153580600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:153572600-153579400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:153572600-153579400	Weak transcription	Spleen	Spleen
15	chr1:153572600-153580800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:153573400-153579800	Weak transcription	Pancreas	Pancrea
17	chr1:153575000-153582000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:153575600-153580000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:153575800-153579200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:153575800-153579600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:153575800-153579600	Strong transcription	HSMM	muscle
22	chr1:153575800-153580600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:153575800-153580800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:153576000-153579400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:153576400-153579600	Strong transcription	HMEC	breast
26	chr1:153576800-153580600	Strong transcription	Osteobl	bone
27	chr1:153577000-153579600	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr1:153577200-153580200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:153577400-153580600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:153577600-153579400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr1:153577600-153580200	Weak transcription	Brain Angular Gyrus	brain
32	chr1:153577600-153580200	Strong transcription	Fetal Lung	lung
33	chr1:153577800-153579600	Strong transcription	Esophagus	oesophagus
34	chr1:153577800-153579800	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr1:153577800-153579800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr1:153577800-153579800	Strong transcription	Hela-S3	cervix
37	chr1:153577800-153580200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:153577800-153580200	Strong transcription	Fetal Intestine Large	intestine
39	chr1:153577800-153580400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr1:153577800-153580400	Strong transcription	Fetal Intestine Small	intestine
41	chr1:153577800-153580600	Strong transcription	Fetal Stomach	stomach
42	chr1:153577800-153580600	Strong transcription	A549	lung
43	chr1:153577800-153581200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:153577800-153582800	Weak transcription	Small Intestine	intestine
45	chr1:153578000-153579200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:153578000-153579400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:153578200-153579200	Strong transcription	NHLF	lung
48	chr1:153578200-153579400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr1:153578200-153580200	Weak transcription	Stomach Mucosa	stomach
50	chr1:153578200-153580600	Strong transcription	Gastric	stomach

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