Variant report

Variant	rs59514866
Chromosome Location	chr13:95925507-95925508
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	chr13:95873940..95876786-chr13:95925021..95926772,2	K562	blood:
2	chr13:95924370..95928427-chr13:95951382..95954630,5	K562	blood:

Variant related genes	Relation type
ENSG00000125257	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs56891151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57865776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58423375	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58751681	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59517595	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59742238	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60211292	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60577821	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60769464	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60895967	1.00[AMR][1000 genomes]
rs61177274	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61353550	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6492773	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7323903	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7324277	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7325419	1.00[AMR][1000 genomes]
rs7338478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546891	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548810	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548855	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548861	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548870	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548871	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551406	1.00[AMR][1000 genomes]
rs73551407	1.00[AMR][1000 genomes]
rs73551420	1.00[AMR][1000 genomes]
rs7987823	0.81[AFR][1000 genomes];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	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1043019	chr13:95924585-96152616	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95897000-95927400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr13:95908000-95926600	Weak transcription	Gastric	stomach
3	chr13:95910200-95927400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:95913600-95932800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr13:95917000-95931400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr13:95919000-95925600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:95919000-95930000	Weak transcription	Esophagus	oesophagus
8	chr13:95919800-95928000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:95920200-95928800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr13:95920200-95952800	Weak transcription	Aorta	Aorta
11	chr13:95920400-95927400	Weak transcription	Hela-S3	cervix
12	chr13:95920600-95928200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr13:95920800-95925600	Weak transcription	Placenta	Placenta
14	chr13:95921200-95925600	Weak transcription	Lung	lung
15	chr13:95921400-95926200	Weak transcription	Right Atrium	heart
16	chr13:95921600-95927600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:95922200-95926200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr13:95922400-95926200	Weak transcription	Small Intestine	intestine
19	chr13:95922400-95927600	Weak transcription	Brain Anterior Caudate	brain
20	chr13:95922400-95927800	Weak transcription	NHEK	skin
21	chr13:95922800-95926400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:95922800-95928200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr13:95923000-95925600	Weak transcription	GM12878-XiMat	blood
24	chr13:95923000-95926400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr13:95923800-95925600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:95923800-95925600	Weak transcription	Pancreas	Pancrea
27	chr13:95923800-95926000	Weak transcription	Ovary	ovary
28	chr13:95923800-95926200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr13:95923800-95941200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr13:95924000-95925600	Weak transcription	Fetal Intestine Small	intestine
31	chr13:95924000-95926600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr13:95924000-95927400	Weak transcription	NHDF-Ad	bronchial
33	chr13:95924200-95925800	Weak transcription	Fetal Stomach	stomach
34	chr13:95924200-95927400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr13:95924200-95927600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:95924200-95927600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr13:95924200-95928000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:95924200-95930800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr13:95924200-95932800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr13:95924400-95925600	Weak transcription	Stomach Mucosa	stomach
41	chr13:95924400-95925600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr13:95924400-95925800	Weak transcription	Fetal Lung	lung
43	chr13:95924400-95926200	Weak transcription	Fetal Intestine Large	intestine
44	chr13:95924400-95926400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr13:95924400-95926400	Weak transcription	HepG2	liver
46	chr13:95924400-95926600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:95924400-95926800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:95924400-95927400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:95924400-95927800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr13:95924400-95927800	Weak transcription	Brain Substantia Nigra	brain

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