Variant report

Variant	rs1549696
Chromosome Location	chr5:15580207-15580208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1025328	0.88[CEU][hapmap]
rs1025329	1.00[CEU][hapmap]
rs10454921	0.89[CEU][hapmap]
rs10520817	0.89[CEU][hapmap]
rs10520818	0.89[CEU][hapmap]
rs12187510	1.00[CEU][hapmap]
rs12189348	1.00[CEU][hapmap]
rs12652729	1.00[CEU][hapmap]
rs12655307	0.89[CEU][hapmap]
rs12656824	1.00[CEU][hapmap]
rs12659622	0.89[CEU][hapmap]
rs1582998	1.00[CEU][hapmap]
rs16903918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17523716	0.89[CEU][hapmap]
rs17523908	0.89[CEU][hapmap]
rs17523929	0.88[CEU][hapmap]
rs17524082	0.82[CEU][hapmap]
rs17601883	0.89[CEU][hapmap]
rs17602097	0.89[CEU][hapmap]
rs17602228	0.89[CEU][hapmap]
rs17703976	0.89[CEU][hapmap]
rs2914762	1.00[CEU][hapmap]
rs4509020	0.89[CEU][hapmap]
rs4510585	1.00[CEU][hapmap]
rs4510586	1.00[CEU][hapmap]
rs4702087	1.00[CEU][hapmap]
rs6879143	0.89[CEU][hapmap]
rs6892081	1.00[CEU][hapmap]
rs7733676	0.89[CEU][hapmap]
rs891195	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking 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	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15555800-15584200	Weak transcription	HSMM	muscle
2	chr5:15567200-15580600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:15571400-15581000	Enhancers	Fetal Heart	heart
4	chr5:15572000-15583600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:15572000-15583800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:15572800-15583200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:15573000-15583800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:15573200-15583600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:15574000-15594200	Weak transcription	Fetal Kidney	kidney
10	chr5:15575600-15583600	Weak transcription	HSMMtube	muscle
11	chr5:15575800-15582800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:15576000-15582600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:15576000-15584200	Weak transcription	Adipose Nuclei	Adipose
14	chr5:15576000-15584800	Weak transcription	NHLF	lung
15	chr5:15576000-15585200	Weak transcription	NHDF-Ad	bronchial
16	chr5:15576200-15580800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:15576200-15588000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:15577400-15580800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr5:15577600-15583200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:15577600-15584800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:15578000-15585200	Weak transcription	Osteobl	bone
22	chr5:15578200-15580400	Enhancers	Fetal Stomach	stomach
23	chr5:15578200-15580800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:15578200-15581400	Weak transcription	Ovary	ovary
25	chr5:15578200-15590200	Weak transcription	Right Ventricle	heart
26	chr5:15578200-15596200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:15578200-15600200	Weak transcription	Left Ventricle	heart
28	chr5:15578400-15583400	Weak transcription	Fetal Lung	lung
29	chr5:15578400-15584200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:15578600-15583800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:15578800-15580800	Weak transcription	Fetal Muscle Leg	muscle
32	chr5:15578800-15584600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:15579000-15580400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:15579200-15581400	Weak transcription	Dnd41	blood
35	chr5:15579400-15580400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:15579600-15584200	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:15579800-15581600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:15580000-15583400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:15580000-15583600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:15580000-15586000	Weak transcription	Brain Substantia Nigra	brain
41	chr5:15580200-15580800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:15580200-15583600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:15580200-15584600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:15580200-15586000	Weak transcription	Colon Smooth Muscle	Colon

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