Variant report

Variant	rs17115714
Chromosome Location	chr14:45427258-45427259
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:45425066..45427979-chr14:45428146..45431397,3	K562	blood:
2	chr14:45424516..45427498-chr14:45427563..45431395,4	K562	blood:
3	chr14:45421921..45423544-chr14:45426465..45428851,2	K562	blood:

Variant related genes	Relation type
ENSG00000179454	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10129201	0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10129456	0.95[YRI][hapmap]
rs10131595	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131972	0.86[YRI][hapmap]
rs10132401	0.86[YRI][hapmap]
rs10132454	0.86[YRI][hapmap]
rs10132492	0.95[YRI][hapmap]
rs10132637	0.89[YRI][hapmap]
rs10134083	0.84[YRI][hapmap]
rs10134385	1.00[AMR][1000 genomes]
rs10135494	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139464	0.95[YRI][hapmap]
rs10140308	0.84[YRI][hapmap]
rs10140534	0.82[YRI][hapmap]
rs10142928	0.89[AFR][1000 genomes]
rs10143572	0.94[YRI][hapmap]
rs10144179	0.86[YRI][hapmap]
rs10145279	0.84[YRI][hapmap]
rs10145979	0.86[YRI][hapmap]
rs10146650	1.00[AMR][1000 genomes]
rs10146732	1.00[AMR][1000 genomes]
rs10146930	0.86[YRI][hapmap]
rs10147547	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147794	0.86[YRI][hapmap]
rs10147950	0.85[AFR][1000 genomes]
rs10148765	0.84[YRI][hapmap]
rs10149748	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11157429	0.86[YRI][hapmap]
rs12100992	0.86[YRI][hapmap]
rs12101074	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs17115721	0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs17115737	1.00[YRI][hapmap]
rs17115745	0.84[YRI][hapmap]
rs17115814	1.00[AMR][1000 genomes]
rs28406098	0.85[YRI][hapmap]
rs28408667	0.83[YRI][hapmap]
rs28469277	0.84[YRI][hapmap]
rs28513185	1.00[AMR][1000 genomes]
rs28544334	0.82[AFR][1000 genomes]
rs28690299	0.86[AFR][1000 genomes]
rs28802144	0.94[YRI][hapmap];0.86[AFR][1000 genomes]
rs28831119	0.86[AFR][1000 genomes]
rs7143763	0.84[YRI][hapmap]
rs8003388	0.86[YRI][hapmap]
rs8010366	0.87[AFR][1000 genomes]
rs961194	0.94[YRI][hapmap];0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1045869	chr14:45415597-45487903	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1259	chr14:45419323-45444660	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45396200-45428400	Weak transcription	HMEC	breast
2	chr14:45402000-45430000	Weak transcription	Colonic Mucosa	Colon
3	chr14:45407800-45428600	Weak transcription	K562	blood
4	chr14:45408400-45429000	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:45408600-45430400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:45409400-45429600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:45410600-45429200	Weak transcription	Brain Germinal Matrix	brain
8	chr14:45413200-45428400	Weak transcription	Fetal Brain Female	brain
9	chr14:45413800-45429200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:45414800-45427600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:45414800-45427600	Weak transcription	HSMMtube	muscle
12	chr14:45414800-45429200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:45415000-45427400	Weak transcription	A549	lung
14	chr14:45415000-45427600	Weak transcription	Adipose Nuclei	Adipose
15	chr14:45415000-45428400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:45415000-45428600	Weak transcription	Brain Anterior Caudate	brain
17	chr14:45415000-45429400	Weak transcription	Fetal Kidney	kidney
18	chr14:45415000-45429400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:45415000-45429600	Weak transcription	Right Ventricle	heart
20	chr14:45415000-45430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:45415200-45427400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:45415200-45427400	Weak transcription	Liver	Liver
23	chr14:45415200-45427400	Weak transcription	Fetal Heart	heart
24	chr14:45415200-45428400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:45415200-45428400	Weak transcription	HUVEC	blood vessel
26	chr14:45415200-45428400	Weak transcription	NHEK	skin
27	chr14:45415200-45428400	Weak transcription	NHLF	lung
28	chr14:45415200-45428600	Weak transcription	NH-A	brain
29	chr14:45415200-45428800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:45415200-45429000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:45415200-45429000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:45415200-45429200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:45415200-45429200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:45415200-45429200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:45415200-45429200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr14:45415200-45429400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:45415200-45429600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr14:45415200-45430200	Weak transcription	Lung	lung
39	chr14:45415600-45427600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr14:45415600-45428800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr14:45415800-45430000	Weak transcription	Placenta	Placenta
42	chr14:45416600-45427400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:45416600-45429400	Weak transcription	Thymus	Thymus
44	chr14:45416800-45427400	Weak transcription	HepG2	liver
45	chr14:45416800-45427400	Weak transcription	HSMM	muscle
46	chr14:45416800-45427800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:45416800-45428600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr14:45416800-45428600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:45416800-45428800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr14:45416800-45429200	Weak transcription	Brain Cingulate Gyrus	brain

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