Variant report

Variant	rs57051751
Chromosome Location	chr14:64386131-64386132
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	chr14:64383780..64386623-chr14:64390441..64393099,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11158524	1.00[AMR][1000 genomes]
rs17101447	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101516	1.00[AMR][1000 genomes]
rs17101525	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101669	1.00[AMR][1000 genomes]
rs17101673	1.00[AMR][1000 genomes]
rs34625768	1.00[AMR][1000 genomes]
rs57259697	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58382551	1.00[AMR][1000 genomes]
rs59237063	1.00[AMR][1000 genomes]
rs59585806	1.00[AMR][1000 genomes]
rs6573540	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7141086	1.00[AMR][1000 genomes]
rs7147564	1.00[AMR][1000 genomes]
rs7148856	1.00[AMR][1000 genomes]
rs7152843	1.00[AMR][1000 genomes]
rs7155113	1.00[AMR][1000 genomes]
rs7155539	1.00[AMR][1000 genomes]
rs7156636	1.00[AMR][1000 genomes]
rs7157465	1.00[AMR][1000 genomes]
rs7161183	1.00[AMR][1000 genomes]
rs8012830	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8017849	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8018044	1.00[AMR][1000 genomes]
rs8018232	1.00[AMR][1000 genomes]
rs8018843	1.00[AMR][1000 genomes]
rs8022052	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8022302	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv564904	chr14:64346190-64416898	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1793389	chr14:64346190-64457224	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64337800-64403800	Weak transcription	Thymus	Thymus
2	chr14:64364600-64387800	Weak transcription	HMEC	breast
3	chr14:64365000-64430200	Weak transcription	Fetal Brain Male	brain
4	chr14:64365200-64386200	Weak transcription	Gastric	stomach
5	chr14:64365400-64393600	Weak transcription	Right Ventricle	heart
6	chr14:64369800-64386200	Weak transcription	Esophagus	oesophagus
7	chr14:64374600-64399600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:64375200-64395000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:64375200-64395200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:64375800-64386200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:64375800-64388600	Weak transcription	Hela-S3	cervix
12	chr14:64375800-64389000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr14:64375800-64393200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:64376000-64386200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:64376000-64386200	Weak transcription	Left Ventricle	heart
16	chr14:64376000-64389000	Weak transcription	Adipose Nuclei	Adipose
17	chr14:64376000-64389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:64376000-64389600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr14:64376000-64389600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr14:64376000-64391200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:64376000-64399200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:64376000-64399600	Weak transcription	Small Intestine	intestine
23	chr14:64376000-64399800	Weak transcription	Primary T cells from cord blood	blood
24	chr14:64376000-64416200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:64376200-64399400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr14:64376400-64394000	Weak transcription	Lung	lung
27	chr14:64377600-64386200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:64377600-64388000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr14:64377600-64389400	Weak transcription	Fetal Intestine Small	intestine
30	chr14:64378000-64386200	Weak transcription	Fetal Muscle Leg	muscle
31	chr14:64378000-64389400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:64378000-64394800	Weak transcription	Fetal Heart	heart
33	chr14:64378000-64404800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:64378000-64416200	Weak transcription	Fetal Lung	lung
35	chr14:64378200-64389200	Weak transcription	Brain Germinal Matrix	brain
36	chr14:64378400-64416000	Weak transcription	Primary B cells from cord blood	blood
37	chr14:64378600-64389400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:64378800-64390600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:64378800-64401200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:64379200-64386200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:64379200-64389600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:64379800-64389200	Weak transcription	Placenta	Placenta
43	chr14:64379800-64409000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr14:64380000-64386800	Weak transcription	Fetal Thymus	thymus
45	chr14:64381400-64386200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr14:64381400-64395200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:64381600-64386400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:64381600-64388800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr14:64383600-64389800	Weak transcription	GM12878-XiMat	blood
50	chr14:64384200-64389400	Weak transcription	HepG2	liver

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