Variant report

Variant	rs28527397
Chromosome Location	chr14:69529496-69529497
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69527663..69529780-chr14:69532425..69536025,3	K562	blood:
2	chr14:69527620..69530017-chr14:69530767..69532829,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10129665	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10132222	0.90[AMR][1000 genomes]
rs10138663	0.85[EUR][1000 genomes]
rs10144812	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10151042	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12432480	0.90[AMR][1000 genomes]
rs12434390	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1400194	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28575021	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28694601	0.90[AMR][1000 genomes]
rs4509951	0.85[EUR][1000 genomes]
rs72718250	0.85[EUR][1000 genomes]
rs72718251	0.85[EUR][1000 genomes]
rs72718259	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8022893	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs910844	0.85[EUR][1000 genomes]
rs910845	0.85[EUR][1000 genomes]
rs910846	0.85[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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69516200-69541800	Strong transcription	Primary T cells from cord blood	blood
2	chr14:69518000-69533800	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr14:69518400-69557200	Weak transcription	Hela-S3	cervix
4	chr14:69518800-69530000	Strong transcription	Duodenum Mucosa	Duodenum
5	chr14:69518800-69530200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr14:69518800-69537000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr14:69519000-69537000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:69519000-69537200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:69519200-69531000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:69519200-69531600	Strong transcription	Fetal Thymus	thymus
11	chr14:69519200-69544600	Weak transcription	Stomach Mucosa	stomach
12	chr14:69519400-69534200	Strong transcription	Primary B cells from cord blood	blood
13	chr14:69519600-69530800	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr14:69519600-69546000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:69519800-69531000	Strong transcription	Fetal Intestine Large	intestine
16	chr14:69519800-69531600	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:69520000-69534800	Strong transcription	Placenta	Placenta
18	chr14:69520200-69531600	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:69520200-69531800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:69520200-69532200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:69521000-69540600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:69521400-69530200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:69522200-69539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:69522400-69556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:69522400-69564800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:69522600-69545600	Weak transcription	Pancreas	Pancrea
27	chr14:69523200-69532200	Strong transcription	Fetal Muscle Leg	muscle
28	chr14:69523400-69535600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr14:69523400-69535800	Weak transcription	Aorta	Aorta
30	chr14:69523600-69529600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:69523600-69535400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:69523600-69545600	Weak transcription	Right Ventricle	heart
33	chr14:69523600-69550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr14:69523600-69553400	Weak transcription	Brain Angular Gyrus	brain
35	chr14:69523600-69556400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:69523800-69535800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:69524000-69532200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:69524000-69557600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:69524400-69530200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:69524800-69556600	Weak transcription	Fetal Brain Male	brain
41	chr14:69525000-69530800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:69525000-69531200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:69525200-69530200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:69525200-69530600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:69525600-69529600	Strong transcription	HepG2	liver
46	chr14:69525800-69529600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:69525800-69530400	Strong transcription	Thymus	Thymus
48	chr14:69525800-69530400	Strong transcription	Dnd41	blood
49	chr14:69525800-69530800	Strong transcription	Liver	Liver
50	chr14:69525800-69531800	Strong transcription	Primary hematopoietic stem cells	blood

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