Variant report

Variant	rs17104318
Chromosome Location	chr5:145600206-145600207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:145594426..145596514-chr5:145599170..145601456,2	K562	blood:
2	chr5:145595165..145597126-chr5:145598903..145601685,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10515568	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11952903	0.96[EUR][1000 genomes]
rs11959720	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17104260	1.00[CEU][hapmap]
rs17104264	1.00[CEU][hapmap]
rs17104268	1.00[CEU][hapmap]
rs17104293	0.93[EUR][1000 genomes]
rs17104321	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17104322	1.00[CEU][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104324	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104331	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104347	1.00[CEU][hapmap];0.93[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17104362	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17104371	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17104395	0.93[EUR][1000 genomes]
rs2163754	1.00[EUR][1000 genomes]
rs2895652	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4631229	0.96[EUR][1000 genomes]
rs57466173	0.96[EUR][1000 genomes]
rs57722184	0.96[EUR][1000 genomes]
rs58922378	0.96[EUR][1000 genomes]
rs60892265	0.98[EUR][1000 genomes]
rs67859456	1.00[EUR][1000 genomes]
rs68040240	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6870249	0.96[EUR][1000 genomes]
rs6882243	0.90[EUR][1000 genomes]
rs72806113	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72806116	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72806136	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72806144	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72806155	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72806173	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72806176	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72822293	0.83[EUR][1000 genomes]
rs72822296	0.83[EUR][1000 genomes]
rs72824110	0.90[EUR][1000 genomes]
rs72824123	0.96[EUR][1000 genomes]
rs72824124	0.96[EUR][1000 genomes]
rs73317887	0.96[EUR][1000 genomes]
rs73317890	0.96[EUR][1000 genomes]
rs7725078	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883008	chr5:145509728-145642925	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv883009	chr5:145567877-145672431	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv462475	chr5:145583623-145642007	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv599935	chr5:145583623-145642007	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv883010	chr5:145583623-145651979	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv883011	chr5:145583623-145672431	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv523502	chr5:145588483-145639987	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv883012	chr5:145589542-145672431	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv883013	chr5:145595837-145651979	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 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	chr5:145584400-145606600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:145584600-145606400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:145584800-145608000	Weak transcription	Esophagus	oesophagus
4	chr5:145584800-145631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:145585000-145602600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:145585200-145609200	Weak transcription	Brain Anterior Caudate	brain
7	chr5:145585400-145609000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:145585600-145601000	Weak transcription	Right Atrium	heart
9	chr5:145585600-145610200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:145585800-145601800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:145586400-145604000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:145586400-145616800	Weak transcription	Right Ventricle	heart
13	chr5:145588200-145608000	Weak transcription	Gastric	stomach
14	chr5:145588200-145609200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:145589000-145633200	Weak transcription	Brain Angular Gyrus	brain
16	chr5:145589200-145615400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:145589400-145610200	Weak transcription	Fetal Kidney	kidney
18	chr5:145589600-145606200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:145589600-145611600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:145593200-145615400	Weak transcription	Brain Substantia Nigra	brain
21	chr5:145593400-145651000	Weak transcription	Stomach Mucosa	stomach
22	chr5:145593600-145601800	Weak transcription	Hela-S3	cervix
23	chr5:145593800-145608000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:145594200-145602600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:145594400-145609400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr5:145594600-145624200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:145594800-145608000	Weak transcription	Lung	lung
28	chr5:145595200-145608000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:145595600-145601600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:145595600-145611400	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:145596400-145616400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:145596600-145610400	Weak transcription	Spleen	Spleen
33	chr5:145596800-145604000	Weak transcription	Brain Germinal Matrix	brain
34	chr5:145596800-145609400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr5:145597000-145668400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr5:145597200-145610800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:145597200-145616800	Weak transcription	NHDF-Ad	bronchial
38	chr5:145597200-145640600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:145597400-145601000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:145597400-145601000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:145597400-145601600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr5:145597600-145601000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:145597600-145601200	Strong transcription	Dnd41	blood
44	chr5:145597600-145610000	Weak transcription	Small Intestine	intestine
45	chr5:145597800-145617000	Weak transcription	HSMMtube	muscle
46	chr5:145598000-145600600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:145598000-145602600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr5:145598000-145607400	Strong transcription	GM12878-XiMat	blood
49	chr5:145598000-145627200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr5:145598000-145632200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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