Variant report

Variant	rs57266336
Chromosome Location	chr14:69238861-69238862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69237219..69239248-chr14:69260234..69262402,3	MCF-7	breast:
2	chr14:69236522..69239167-chr14:69246700..69248394,2	K562	blood:
3	chr14:69193054..69195600-chr14:69237307..69239865,2	K562	blood:
4	chr14:69223513..69226037-chr14:69236750..69239337,3	K562	blood:
5	chr14:69238784..69240441-chr14:69244509..69246381,2	K562	blood:
6	chr14:69237260..69240104-chr14:69243111..69244971,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56173737	1.00[AFR][1000 genomes]
rs57642360	0.96[AFR][1000 genomes]
rs58638884	0.89[AFR][1000 genomes]
rs60693583	0.93[AFR][1000 genomes]
rs72731537	0.89[AFR][1000 genomes]
rs72731538	0.89[AFR][1000 genomes]
rs74060130	1.00[AFR][1000 genomes]
rs74060132	1.00[AFR][1000 genomes]
rs74060133	1.00[AFR][1000 genomes]
rs74060137	0.86[AFR][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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69228600-69247000	Weak transcription	Esophagus	oesophagus
2	chr14:69230200-69245800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:69230800-69241000	Weak transcription	HSMMtube	muscle
4	chr14:69231600-69242200	Weak transcription	Stomach Mucosa	stomach
5	chr14:69231600-69244600	Weak transcription	Fetal Heart	heart
6	chr14:69233400-69247000	Weak transcription	Liver	Liver
7	chr14:69233600-69243200	Weak transcription	Pancreas	Pancrea
8	chr14:69233800-69241800	Weak transcription	Fetal Intestine Small	intestine
9	chr14:69234400-69241000	Weak transcription	HepG2	liver
10	chr14:69236400-69241000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr14:69236800-69239800	Enhancers	HUVEC	blood vessel
12	chr14:69236800-69240600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:69237000-69239600	Enhancers	Fetal Muscle Leg	muscle
14	chr14:69237000-69240000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:69237000-69241800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:69237000-69245800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:69237200-69240800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr14:69237400-69239400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr14:69237400-69240800	Enhancers	Fetal Thymus	thymus
20	chr14:69237600-69239600	Enhancers	Adipose Nuclei	Adipose
21	chr14:69237600-69240000	Enhancers	Primary hematopoietic stem cells	blood
22	chr14:69237600-69240000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr14:69237600-69241000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:69237800-69239600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr14:69237800-69240400	Enhancers	Thymus	Thymus
26	chr14:69238000-69239200	Enhancers	Primary B cells from cord blood	blood
27	chr14:69238200-69239000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr14:69238200-69239200	Enhancers	Primary B cells from peripheral blood	blood
29	chr14:69238400-69239000	Enhancers	NHEK	skin
30	chr14:69238400-69239200	Weak transcription	Left Ventricle	heart
31	chr14:69238400-69239400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:69238400-69239800	Weak transcription	Right Atrium	heart
33	chr14:69238400-69243000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:69238400-69246600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr14:69238600-69239000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr14:69238600-69239600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr14:69238600-69240600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr14:69238600-69241000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr14:69238600-69243400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:69238600-69245600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:69238800-69239000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:69238800-69239000	Enhancers	Duodenum Mucosa	Duodenum
43	chr14:69238800-69239000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr14:69238800-69239200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr14:69238800-69239800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:69238800-69240000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:69238800-69240400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr14:69238800-69241000	Enhancers	Primary T cells from cord blood	blood
49	chr14:69238800-69241400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:69238800-69241400	Weak transcription	Placenta	Placenta

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