Variant report

Variant	rs187432
Chromosome Location	chr5:14334735-14334736
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14333298..14335289-chr5:14337872..14339600,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs164859	0.82[CHB][hapmap]
rs164860	0.82[CHB][hapmap]
rs164862	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs164863	0.82[CHB][hapmap]
rs165094	0.82[CHB][hapmap]
rs173948	0.84[CHD][hapmap];0.80[MEX][hapmap]
rs2440982	0.82[CHB][hapmap]
rs247134	0.83[ASN][1000 genomes]
rs247138	0.86[CHD][hapmap]
rs247141	0.80[JPT][hapmap]
rs247142	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs247143	0.80[ASN][1000 genomes]
rs247144	0.80[ASN][1000 genomes]
rs247145	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs30622	0.89[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs30623	0.89[CEU][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs30624	0.89[CEU][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap]
rs30625	0.87[ASN][1000 genomes]
rs30632	0.89[ASN][1000 genomes]
rs30633	0.90[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs30635	0.87[ASN][1000 genomes]
rs354303	0.82[CHB][hapmap]
rs39857	0.82[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs40275	0.84[ASN][1000 genomes]
rs40971	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs42203	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs43171	0.80[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs187432	DNAH5	cis	cerebellum	SCAN
rs187432	LOC285696	cis	parietal	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14310400-14342000	Weak transcription	Stomach Mucosa	stomach
3	chr5:14310600-14344600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:14313800-14337600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:14314200-14342200	Weak transcription	Small Intestine	intestine
6	chr5:14314600-14338200	Strong transcription	HSMM	muscle
7	chr5:14314800-14342200	Strong transcription	Osteobl	bone
8	chr5:14318000-14336600	Weak transcription	Fetal Thymus	thymus
9	chr5:14319200-14349400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:14321600-14334800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:14321600-14336400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:14321600-14336600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:14321600-14340200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:14321800-14336000	Weak transcription	Colonic Mucosa	Colon
15	chr5:14321800-14336600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:14323000-14336800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:14323400-14336600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:14323600-14342400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:14323800-14339400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:14326600-14336800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:14326600-14342400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:14326800-14346400	Weak transcription	Fetal Kidney	kidney
23	chr5:14328000-14338800	Strong transcription	NHLF	lung
24	chr5:14328000-14339200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:14328000-14344400	Strong transcription	HMEC	breast
26	chr5:14328200-14335600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr5:14328200-14338800	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr5:14328200-14342200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:14328400-14338200	Strong transcription	NH-A	brain
30	chr5:14328800-14336400	Weak transcription	Fetal Lung	lung
31	chr5:14329800-14340200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:14330000-14339600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:14330400-14338600	Strong transcription	HUVEC	blood vessel
34	chr5:14330400-14340000	Strong transcription	Liver	Liver
35	chr5:14330600-14334800	Strong transcription	Left Ventricle	heart
36	chr5:14330600-14337000	Strong transcription	NHDF-Ad	bronchial
37	chr5:14330600-14344600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr5:14330600-14345000	Strong transcription	Fetal Muscle Trunk	muscle
39	chr5:14330800-14336800	Strong transcription	HSMMtube	muscle
40	chr5:14330800-14339800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr5:14330800-14340000	Strong transcription	HepG2	liver
42	chr5:14330800-14341600	Strong transcription	Placenta	Placenta
43	chr5:14330800-14343400	Strong transcription	Fetal Muscle Leg	muscle
44	chr5:14331000-14340200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr5:14331000-14341800	Strong transcription	Fetal Intestine Large	intestine
46	chr5:14331000-14348000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr5:14331400-14335200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr5:14331400-14350000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:14331600-14336200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr5:14331600-14341200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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