Variant report

Variant	rs28583775
Chromosome Location	chr14:77890189-77890190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77889939..77893252-chr14:77901202..77905310,4	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10143629	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10149037	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11539461	0.86[ASN][1000 genomes]
rs11624314	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12432582	0.91[ASN][1000 genomes]
rs12433120	0.81[EUR][1000 genomes]
rs12433521	0.86[ASN][1000 genomes]
rs12434419	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12435676	0.95[ASN][1000 genomes]
rs12897689	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13379432	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17105749	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17751406	0.86[ASN][1000 genomes]
rs17751412	0.86[ASN][1000 genomes]
rs17824214	0.86[ASN][1000 genomes]
rs17824322	0.86[ASN][1000 genomes]
rs2063997	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28590531	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4903578	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4903581	0.91[ASN][1000 genomes]
rs59010468	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6574374	0.81[ASN][1000 genomes]
rs7149534	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7155063	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7156671	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8007503	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8010520	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8012548	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8017215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018509	0.82[ASN][1000 genomes]
rs8020537	0.91[AMR][1000 genomes];0.91[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	nsv1362	chr14:77853202-77898605	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1041985	chr14:77877421-77936969	Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77880400-77894400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:77883800-77893200	Weak transcription	K562	blood
3	chr14:77884800-77891000	Weak transcription	HMEC	breast
4	chr14:77886200-77890400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:77886200-77891000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:77886400-77890400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:77886400-77890400	Weak transcription	Gastric	stomach
8	chr14:77886400-77891000	Weak transcription	HUVEC	blood vessel
9	chr14:77886400-77891200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:77886600-77890400	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:77886600-77890800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:77886600-77892800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:77886600-77895200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:77886600-77896200	Strong transcription	A549	lung
15	chr14:77886800-77890200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:77886800-77890400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr14:77886800-77890800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr14:77886800-77891000	Weak transcription	Brain Substantia Nigra	brain
19	chr14:77886800-77893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:77887000-77892800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:77887000-77896000	Strong transcription	Brain Germinal Matrix	brain
22	chr14:77887000-77919800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:77887000-77920400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr14:77887200-77890200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:77887200-77891000	Weak transcription	Fetal Brain Male	brain
26	chr14:77887200-77892800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr14:77887200-77896600	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr14:77887200-77904200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr14:77887200-77910800	Strong transcription	Primary B cells from cord blood	blood
30	chr14:77887200-77920200	Strong transcription	Placenta	Placenta
31	chr14:77887200-77920600	Strong transcription	Primary T cells from cord blood	blood
32	chr14:77887400-77891200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:77887400-77896200	Strong transcription	Left Ventricle	heart
34	chr14:77887400-77896400	Strong transcription	Ovary	ovary
35	chr14:77887400-77904200	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr14:77887400-77904400	Strong transcription	Adipose Nuclei	Adipose
37	chr14:77887400-77920000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr14:77887400-77920400	Strong transcription	Liver	Liver
39	chr14:77887600-77890400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:77887600-77891000	Weak transcription	Esophagus	oesophagus
41	chr14:77887600-77896200	Strong transcription	Brain Cingulate Gyrus	brain
42	chr14:77887600-77904200	Strong transcription	Brain Hippocampus Middle	brain
43	chr14:77887600-77904400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr14:77887600-77904400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr14:77887600-77913000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:77887600-77920000	Strong transcription	Fetal Intestine Large	intestine
47	chr14:77887800-77890400	Weak transcription	Right Ventricle	heart
48	chr14:77887800-77891000	Weak transcription	Colonic Mucosa	Colon
49	chr14:77887800-77898000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:77887800-77904000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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