Variant report

Variant	rs28574283
Chromosome Location	chr1:153575653-153575654
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153571452..153574148-chr1:153574337..153577646,4	MCF-7	breast:
2	chr1:153533881..153554060-chr1:153575339..153590405,58	MCF-7	breast:
3	chr1:153568522..153571186-chr1:153574418..153577385,2	MCF-7	breast:
4	chr1:153573874..153575977-chr1:153581111..153583719,2	K562	blood:
5	chr1:153564292..153566516-chr1:153575571..153577980,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196754	Chromatin interaction
ENSG00000188643	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11486186	1.00[AMR][1000 genomes]
rs11808118	1.00[AMR][1000 genomes]
rs34192791	1.00[AMR][1000 genomes]
rs61545193	1.00[AMR][1000 genomes]
rs6682725	1.00[AMR][1000 genomes]
rs73009905	1.00[AMR][1000 genomes]
rs73009929	1.00[AMR][1000 genomes]
rs73009949	1.00[AMR][1000 genomes]
rs73009950	1.00[AMR][1000 genomes]
rs73009952	1.00[AMR][1000 genomes]
rs73026369	1.00[AMR][1000 genomes]
rs73026373	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153560400-153580000	Weak transcription	Right Atrium	heart
2	chr1:153561200-153577600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:153565800-153575800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:153565800-153580400	Weak transcription	Brain Anterior Caudate	brain
5	chr1:153565800-153580400	Weak transcription	Fetal Kidney	kidney
6	chr1:153566800-153579200	Weak transcription	Aorta	Aorta
7	chr1:153569600-153578200	Weak transcription	Gastric	stomach
8	chr1:153569800-153577800	Weak transcription	Esophagus	oesophagus
9	chr1:153569800-153577800	Weak transcription	Fetal Intestine Large	intestine
10	chr1:153569800-153577800	Weak transcription	A549	lung
11	chr1:153570400-153579800	Weak transcription	HepG2	liver
12	chr1:153571200-153578200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:153571200-153579000	Weak transcription	Right Ventricle	heart
14	chr1:153571400-153577800	Weak transcription	Fetal Stomach	stomach
15	chr1:153571400-153577800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:153571400-153577800	Weak transcription	Hela-S3	cervix
17	chr1:153571400-153578400	Weak transcription	Colonic Mucosa	Colon
18	chr1:153571400-153578400	Weak transcription	Left Ventricle	heart
19	chr1:153571400-153579000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:153571400-153579000	Weak transcription	Lung	lung
21	chr1:153571400-153579000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:153571400-153580000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:153571600-153577800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:153571600-153578400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:153571600-153578800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:153571600-153579200	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:153571600-153579400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:153571800-153577600	Weak transcription	Fetal Lung	lung
29	chr1:153572200-153578800	Weak transcription	NH-A	brain
30	chr1:153572200-153579000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:153572400-153576800	Weak transcription	Osteobl	bone
32	chr1:153572400-153577800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:153572400-153577800	Weak transcription	HUVEC	blood vessel
34	chr1:153572400-153578200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:153572400-153578400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:153572400-153578400	Weak transcription	NHEK	skin
37	chr1:153572400-153578600	Weak transcription	Liver	Liver
38	chr1:153572400-153578800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:153572400-153579000	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:153572400-153579000	Weak transcription	HSMMtube	muscle
41	chr1:153572400-153579200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:153572400-153579400	Weak transcription	Placenta	Placenta
43	chr1:153572400-153579600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:153572400-153580600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:153572600-153575800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:153572600-153575800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:153572600-153575800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:153572600-153575800	Weak transcription	HSMM	muscle
49	chr1:153572600-153577000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:153572600-153577600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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