Variant report

Variant	rs17128438
Chromosome Location	chr14:55858297-55858298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10130894	0.86[EUR][1000 genomes]
rs10134937	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10135891	1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10138838	1.00[EUR][1000 genomes]
rs10144869	1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs10149926	0.86[EUR][1000 genomes]
rs10162552	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10220441	1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11844441	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11845802	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11851023	0.86[EUR][1000 genomes]
rs13379398	0.86[EUR][1000 genomes]
rs13379420	0.86[EUR][1000 genomes]
rs17128370	0.81[ASW][hapmap];1.00[TSI][hapmap]
rs17128434	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1886784	0.86[MEX][hapmap]
rs2050669	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2065998	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2341536	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28379450	0.86[EUR][1000 genomes]
rs28661252	0.86[EUR][1000 genomes]
rs56042503	0.93[AMR][1000 genomes]
rs61662514	0.86[EUR][1000 genomes]
rs7148959	0.83[EUR][1000 genomes]
rs74050963	0.86[EUR][1000 genomes]
rs74050975	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74053904	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8007038	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8016716	0.86[MEX][hapmap]
rs8021377	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9323282	0.92[AMR][1000 genomes]
rs946058	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9652341	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
4	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55808800-55865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:55818400-55858800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:55821400-55865200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:55831000-55859400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:55836800-55877800	Weak transcription	Esophagus	oesophagus
7	chr14:55839400-55859200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:55839600-55858600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr14:55840200-55858800	Strong transcription	Primary B cells from cord blood	blood
10	chr14:55841000-55859000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:55848600-55876600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:55848800-55861000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:55848800-55861200	Weak transcription	Small Intestine	intestine
14	chr14:55848800-55861800	Weak transcription	HUVEC	blood vessel
15	chr14:55848800-55864600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:55848800-55865000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:55849200-55876600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:55849200-55878000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:55849800-55865200	Weak transcription	A549	lung
20	chr14:55850000-55868400	Weak transcription	Right Ventricle	heart
21	chr14:55850800-55861400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:55850800-55865400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:55850800-55865400	Weak transcription	Aorta	Aorta
24	chr14:55851000-55871000	Weak transcription	Pancreas	Pancrea
25	chr14:55851600-55859000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:55852000-55859600	Strong transcription	Adipose Nuclei	Adipose
27	chr14:55852000-55861000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:55852000-55877200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr14:55852400-55859200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:55852400-55865400	Weak transcription	Colonic Mucosa	Colon
31	chr14:55852800-55865200	Weak transcription	NHEK	skin
32	chr14:55853000-55865200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:55853000-55877200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:55853400-55861200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr14:55853600-55865600	Weak transcription	Fetal Kidney	kidney
36	chr14:55853800-55861200	Weak transcription	Thymus	Thymus
37	chr14:55854000-55861200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:55854000-55861200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr14:55854000-55868400	Weak transcription	Gastric	stomach
40	chr14:55854200-55861200	Weak transcription	Brain Hippocampus Middle	brain
41	chr14:55854200-55861800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:55854200-55866400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:55854200-55871000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:55854400-55865400	Weak transcription	Brain Substantia Nigra	brain
45	chr14:55854800-55878000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:55855000-55859000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:55855200-55862200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr14:55855400-55859400	Strong transcription	Lung	lung
49	chr14:55855400-55865200	Weak transcription	HMEC	breast
50	chr14:55855800-55865200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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