Variant report

Variant	rs152363
Chromosome Location	chr5:14756567-14756568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13152887	0.87[ASN][1000 genomes]
rs13170282	0.81[CHB][hapmap]
rs153927	0.81[CHB][hapmap]
rs153929	0.81[CHB][hapmap]
rs153930	0.81[CHB][hapmap]
rs153933	0.81[CHB][hapmap]
rs16903681	0.81[CHB][hapmap]
rs16903692	0.81[CHB][hapmap];0.85[MEX][hapmap]
rs16903693	0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1697124	0.91[ASN][1000 genomes]
rs2288474	0.81[CHB][hapmap]
rs2291943	1.00[JPT][hapmap];0.89[MEX][hapmap]
rs35413980	0.85[ASN][1000 genomes]
rs4702047	0.81[CHB][hapmap]
rs6864641	0.81[CHB][hapmap]
rs697569	0.81[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs152363	DNAH5	cis	parietal	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14725400-14758600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:14727200-14757000	Weak transcription	NHLF	lung
3	chr5:14729200-14791000	Weak transcription	Small Intestine	intestine
4	chr5:14730000-14758400	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr5:14736600-14760000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr5:14736800-14757400	Strong transcription	Duodenum Mucosa	Duodenum
7	chr5:14737800-14759200	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr5:14737800-14759400	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:14741600-14767800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:14742800-14756600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr5:14742800-14758400	Strong transcription	Primary T cells from cord blood	blood
12	chr5:14743000-14756800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr5:14744200-14757400	Strong transcription	Dnd41	blood
14	chr5:14744600-14758600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:14744600-14761800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:14744600-14775800	Weak transcription	NH-A	brain
17	chr5:14744800-14757200	Weak transcription	HUVEC	blood vessel
18	chr5:14744800-14776000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:14745800-14757800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:14746000-14790200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr5:14746200-14760200	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:14746200-14762400	Weak transcription	GM12878-XiMat	blood
23	chr5:14746200-14775800	Weak transcription	Spleen	Spleen
24	chr5:14746400-14768000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr5:14746600-14776000	Weak transcription	Placenta	Placenta
26	chr5:14748800-14760000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:14749000-14776000	Weak transcription	Esophagus	oesophagus
28	chr5:14750000-14758400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:14751000-14758600	Strong transcription	Fetal Intestine Small	intestine
30	chr5:14751200-14760400	Weak transcription	HSMMtube	muscle
31	chr5:14751200-14762400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:14751400-14758200	Weak transcription	Colonic Mucosa	Colon
33	chr5:14751400-14761600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr5:14751400-14775800	Weak transcription	Pancreas	Pancrea
35	chr5:14751600-14768000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:14752200-14776600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr5:14752600-14756800	Strong transcription	Thymus	Thymus
38	chr5:14753000-14756600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:14753400-14775600	Weak transcription	Lung	lung
40	chr5:14753400-14777000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:14753600-14757400	Enhancers	Brain Substantia Nigra	brain
42	chr5:14753600-14760000	Weak transcription	Right Ventricle	heart
43	chr5:14753600-14760200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:14753600-14790000	Weak transcription	Ovary	ovary
45	chr5:14753600-14801600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr5:14753800-14757400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr5:14753800-14760200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:14753800-14760800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:14753800-14775800	Weak transcription	Gastric	stomach
50	chr5:14754200-14757400	Enhancers	Brain Angular Gyrus	brain

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