Variant report

Variant	rs1030664
Chromosome Location	chr5:146826071-146826072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11950421	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11952079	0.87[AFR][1000 genomes]
rs11955404	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11958380	0.87[AFR][1000 genomes]
rs11960053	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13340366	0.89[AFR][1000 genomes]
rs17106746	0.87[AFR][1000 genomes]
rs7730192	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7737670	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv5055	chr5:146812672-146857424	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146804800-146831600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:146813000-146831800	Weak transcription	Right Ventricle	heart
3	chr5:146813200-146828200	Weak transcription	NHLF	lung
4	chr5:146814200-146826400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:146816800-146826200	Weak transcription	Lung	lung
6	chr5:146817200-146826200	Weak transcription	Psoas Muscle	Psoas
7	chr5:146817200-146829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:146817200-146830800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:146817200-146831800	Weak transcription	Esophagus	oesophagus
10	chr5:146819200-146831600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:146819200-146831600	Weak transcription	Spleen	Spleen
12	chr5:146819400-146826200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:146822000-146826200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:146822200-146828800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:146823200-146826200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:146823200-146827000	Enhancers	Rectal Smooth Muscle	rectum
17	chr5:146823200-146831800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:146823400-146827000	Enhancers	Colon Smooth Muscle	Colon
19	chr5:146823600-146826400	Enhancers	Fetal Brain Male	brain
20	chr5:146823600-146827000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:146823600-146827000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:146823600-146828600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:146824200-146827000	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
24	chr5:146824400-146826200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:146824400-146826800	Enhancers	Brain Hippocampus Middle	brain
26	chr5:146824600-146826200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:146824600-146826400	Enhancers	Brain Anterior Caudate	brain
28	chr5:146824600-146826400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
29	chr5:146824600-146826600	Genic enhancers	H9 Cell Line	embryonic stem cell
30	chr5:146824600-146826600	Enhancers	Fetal Muscle Leg	muscle
31	chr5:146824600-146827200	Genic enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:146824600-146830800	Enhancers	Ovary	ovary
33	chr5:146824800-146826600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr5:146824800-146826600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr5:146824800-146826800	Genic enhancers	H1 Cell Line	embryonic stem cell
36	chr5:146824800-146826800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:146825000-146826600	Enhancers	NHDF-Ad	bronchial
38	chr5:146825000-146827000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:146825000-146827400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:146825000-146828800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:146825200-146826200	Weak transcription	Colonic Mucosa	Colon
42	chr5:146825200-146826400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:146825200-146826600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:146825200-146826600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:146825400-146826200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:146825400-146827200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:146825600-146826600	Enhancers	Adipose Nuclei	Adipose
48	chr5:146825600-146826600	Genic enhancers	Aorta	Aorta
49	chr5:146825600-146826600	Genic enhancers	Fetal Stomach	stomach
50	chr5:146825600-146826600	Enhancers	Right Atrium	heart

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