Variant report

Variant	rs10147260
Chromosome Location	chr14:45508926-45508927
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10129442	1.00[AMR][1000 genomes]
rs10143733	1.00[AMR][1000 genomes]
rs10143868	1.00[AMR][1000 genomes]
rs17115678	1.00[AMR][1000 genomes]
rs28386938	1.00[AMR][1000 genomes]
rs28408667	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61742835	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7494426	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1038384	chr14:45447187-45521583	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
9	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:45465800-45524000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:45465800-45552600	Weak transcription	HMEC	breast
4	chr14:45482800-45545400	Weak transcription	NHDF-Ad	bronchial
5	chr14:45493000-45535000	Weak transcription	Small Intestine	intestine
6	chr14:45493600-45510600	Weak transcription	NHLF	lung
7	chr14:45498600-45515600	Weak transcription	NH-A	brain
8	chr14:45499200-45523400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:45499800-45523400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr14:45501200-45509200	Strong transcription	Primary T cells from cord blood	blood
11	chr14:45501800-45515200	Weak transcription	Osteobl	bone
12	chr14:45502200-45525600	Weak transcription	NHEK	skin
13	chr14:45504800-45510400	Weak transcription	Right Atrium	heart
14	chr14:45505000-45509200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr14:45505200-45531400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr14:45505600-45509200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:45505800-45509000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr14:45505800-45509000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:45505800-45509000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr14:45505800-45509000	Strong transcription	Brain Cingulate Gyrus	brain
21	chr14:45505800-45509200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:45505800-45509200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr14:45505800-45509200	Strong transcription	Placenta	Placenta
24	chr14:45505800-45509200	Strong transcription	A549	lung
25	chr14:45505800-45509400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr14:45505800-45509400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr14:45505800-45510200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:45506000-45509000	Strong transcription	Brain Anterior Caudate	brain
29	chr14:45506000-45509000	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr14:45506000-45509200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:45506000-45509200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:45506000-45509200	ZNF genes & repeats	Dnd41	blood
33	chr14:45506200-45509000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr14:45506200-45509000	Strong transcription	Rectal Smooth Muscle	rectum
35	chr14:45506200-45509200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr14:45506200-45509200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:45506200-45509200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:45506200-45509200	Strong transcription	Adipose Nuclei	Adipose
39	chr14:45506200-45509200	Strong transcription	Brain Hippocampus Middle	brain
40	chr14:45506200-45509600	Strong transcription	Fetal Lung	lung
41	chr14:45506200-45509600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr14:45506400-45509000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr14:45506400-45509200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:45506400-45509200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr14:45506400-45509800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr14:45506600-45509200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr14:45506800-45511600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:45506800-45533800	Weak transcription	Psoas Muscle	Psoas
49	chr14:45507000-45509200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:45507000-45509200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood

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