Variant report

Variant	rs17101245
Chromosome Location	chr14:63962770-63962771
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	chr14:63957612..63960480-chr14:63961039..63963972,2	K562	blood:
2	chr14:63957250..63960543-chr14:63961039..63963972,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11847169	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1472504	0.86[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101253	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1988781	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57530734	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58308869	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59282502	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59443470	0.90[AFR][1000 genomes]
rs7142618	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs7146697	1.00[AMR][1000 genomes]
rs7157776	1.00[AMR][1000 genomes]
rs8014212	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS 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	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63938600-63962800	Weak transcription	Fetal Stomach	stomach
2	chr14:63938600-63963800	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:63939000-63976800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:63939800-63967200	Weak transcription	Fetal Intestine Small	intestine
5	chr14:63946200-63966400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:63946200-63976800	Weak transcription	Small Intestine	intestine
7	chr14:63948400-63963200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:63950400-63968600	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:63950600-63962800	Weak transcription	Lung	lung
10	chr14:63950600-63974800	Weak transcription	Gastric	stomach
11	chr14:63950800-63975200	Weak transcription	Thymus	Thymus
12	chr14:63951000-63974800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr14:63951000-64003200	Weak transcription	Ovary	ovary
14	chr14:63951400-63967000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr14:63951400-63968800	Weak transcription	Primary T cells from cord blood	blood
16	chr14:63951400-63971400	Weak transcription	HepG2	liver
17	chr14:63952000-63974600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:63952600-63967000	Weak transcription	Fetal Intestine Large	intestine
19	chr14:63952800-63974800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr14:63953600-63976800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:63954800-63966800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr14:63954800-63970000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr14:63955000-63975000	Weak transcription	Primary B cells from cord blood	blood
24	chr14:63955200-63973600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:63955200-63975000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr14:63955200-63977000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr14:63955200-63977800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr14:63955400-63973600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr14:63959000-63963600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:63959000-63976800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:63959400-63963800	Weak transcription	Brain Anterior Caudate	brain
32	chr14:63959800-63963800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:63959800-63966600	Weak transcription	GM12878-XiMat	blood
34	chr14:63959800-63969600	Weak transcription	Aorta	Aorta
35	chr14:63959800-63973600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr14:63960000-63965000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:63960000-63965600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:63960000-63966400	Weak transcription	Osteobl	bone
39	chr14:63960000-63971400	Weak transcription	Hela-S3	cervix
40	chr14:63960000-63978000	Weak transcription	NHLF	lung
41	chr14:63960000-63983400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:63960000-64005000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:63960200-63965400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:63960200-63977000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr14:63960200-63983200	Weak transcription	NH-A	brain
46	chr14:63960200-64008600	Weak transcription	HSMMtube	muscle
47	chr14:63960400-63963000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:63960400-63963400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:63960400-63963600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:63960400-63967000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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