Variant report

Variant	rs28532794
Chromosome Location	chr14:55520691-55520692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55518983..55521078-chr14:55544190..55545895,2	K562	blood:
2	chr14:55517037..55520851-chr14:55594266..55601656,13	MCF-7	breast:
3	chr14:55518259..55522048-chr14:55593067..55596290,3	K562	blood:
4	chr14:55519592..55523074-chr14:55547294..55549718,3	K562	blood:
5	chr14:55520461..55523656-chr14:55547277..55549702,3	K562	blood:
6	chr14:55491083..55496744-chr14:55514437..55523536,23	MCF-7	breast:
7	chr14:55491921..55500295-chr14:55515389..55520812,24	K562	blood:
8	chr14:55501256..55503493-chr14:55519727..55521826,2	K562	blood:
9	chr14:55519061..55521585-chr14:55537812..55539825,2	MCF-7	breast:
10	chr14:55490790..55495805-chr14:55515486..55522658,19	MCF-7	breast:
11	chr14:55516981..55523073-chr14:55594365..55600344,10	MCF-7	breast:
12	chr14:55367425..55371142-chr14:55516489..55521777,7	MCF-7	breast:
13	chr14:55488932..55491816-chr14:55519690..55522183,2	K562	blood:
14	chr14:55468473..55471195-chr14:55518446..55520882,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000131979	Chromatin interaction
ENSG00000180008	Chromatin interaction
ENSG00000131981	Chromatin interaction
ENSG00000198554	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10129377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134274	1.00[AMR][1000 genomes]
rs10136782	1.00[AMR][1000 genomes]
rs10140189	1.00[AMR][1000 genomes]
rs10141452	1.00[AMR][1000 genomes]
rs10143025	1.00[AMR][1000 genomes]
rs10144957	1.00[AMR][1000 genomes]
rs10146096	1.00[AMR][1000 genomes]
rs10146709	1.00[AMR][1000 genomes]
rs10147430	1.00[AMR][1000 genomes]
rs10151598	1.00[AMR][1000 genomes]
rs13379161	1.00[AMR][1000 genomes]
rs28436729	1.00[AMR][1000 genomes]
rs28460177	1.00[AMR][1000 genomes]
rs28478406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489712	1.00[AMR][1000 genomes]
rs9323276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9323277	1.00[AMR][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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55519000-55520800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr14:55519200-55529400	Weak transcription	Spleen	Spleen
3	chr14:55519400-55520800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr14:55519400-55524000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:55519400-55524600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:55519400-55529200	Weak transcription	Pancreas	Pancrea
7	chr14:55519600-55520800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr14:55519600-55521200	Transcr. at gene 5' and 3'	Hela-S3	cervix
9	chr14:55519600-55522800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr14:55519600-55523000	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr14:55519600-55524600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:55519600-55524800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:55519600-55528600	Weak transcription	Colonic Mucosa	Colon
14	chr14:55519600-55529400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:55519600-55529400	Weak transcription	Esophagus	oesophagus
16	chr14:55519600-55534400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:55519600-55538000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:55519800-55520800	Genic enhancers	Primary hematopoietic stem cells	blood
19	chr14:55519800-55520800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:55519800-55520800	Enhancers	Brain Angular Gyrus	brain
21	chr14:55519800-55521200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:55519800-55521400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:55519800-55521400	Weak transcription	Ovary	ovary
24	chr14:55519800-55522400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr14:55519800-55523200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:55519800-55523400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr14:55519800-55524200	Weak transcription	Lung	lung
28	chr14:55519800-55526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:55520000-55520800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr14:55520000-55520800	Enhancers	Fetal Heart	heart
31	chr14:55520000-55520800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
32	chr14:55520000-55521200	Enhancers	Liver	Liver
33	chr14:55520000-55521400	Genic enhancers	HSMMtube	muscle
34	chr14:55520000-55521800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr14:55520000-55522000	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:55520000-55522200	Strong transcription	Placenta	Placenta
37	chr14:55520000-55522600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr14:55520000-55522800	Enhancers	Small Intestine	intestine
39	chr14:55520000-55523800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr14:55520000-55526000	Weak transcription	Brain Hippocampus Middle	brain
41	chr14:55520000-55528600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:55520000-55529400	Weak transcription	Aorta	Aorta
43	chr14:55520000-55529400	Weak transcription	Fetal Brain Female	brain
44	chr14:55520200-55520800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:55520200-55520800	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr14:55520200-55520800	Transcr. at gene 5' and 3'	Osteobl	bone
47	chr14:55520200-55521200	Genic enhancers	Primary B cells from peripheral blood	blood
48	chr14:55520200-55521200	Enhancers	Primary T cells from cord blood	blood
49	chr14:55520200-55521200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:55520200-55521200	Enhancers	Right Ventricle	heart

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