Variant report

Variant	rs1000478
Chromosome Location	chr9:103273403-103273404
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	chr9:103272464..103275112-chr9:103278958..103281032,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1136616	1.00[EUR][1000 genomes]
rs1807194	1.00[EUR][1000 genomes]
rs2417177	1.00[EUR][1000 genomes]
rs4260947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5018733	0.92[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56225676	1.00[AMR][1000 genomes]
rs61177580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7043406	1.00[EUR][1000 genomes]
rs73657325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73657327	1.00[EUR][1000 genomes]
rs73657329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7858132	1.00[EUR][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	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS 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 miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103238200-103274600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:103255400-103277600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:103255600-103301600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:103256200-103287400	Weak transcription	HSMMtube	muscle
5	chr9:103257000-103289400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:103258600-103296400	Weak transcription	Brain Anterior Caudate	brain
7	chr9:103260800-103287200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:103261200-103287600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr9:103261600-103340200	Weak transcription	Left Ventricle	heart
10	chr9:103263200-103312200	Weak transcription	Fetal Kidney	kidney
11	chr9:103263400-103273800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr9:103263400-103278200	Weak transcription	Fetal Lung	lung
13	chr9:103263400-103327600	Weak transcription	Aorta	Aorta
14	chr9:103264800-103277000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr9:103265200-103277800	Weak transcription	Ovary	ovary
16	chr9:103265400-103279800	Weak transcription	Brain Hippocampus Middle	brain
17	chr9:103269400-103287000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr9:103270000-103289200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:103270200-103287200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:103270400-103283000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:103270600-103273600	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr9:103270600-103274000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:103270600-103276600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr9:103270800-103290000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:103271400-103273800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:103271600-103278000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:103272000-103274200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:103272200-103279800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:103272400-103273600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr9:103272600-103273800	Strong transcription	Fetal Brain Female	brain
31	chr9:103272600-103274200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr9:103272600-103278000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:103272600-103307000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:103272800-103283600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:103272800-103285400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:103273000-103285200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:103273000-103303600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:103273200-103275600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr9:103273200-103283800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr9:103273400-103273800	Strong transcription	Brain Germinal Matrix	brain
41	chr9:103273400-103275200	Weak transcription	Fetal Muscle Leg	muscle
42	chr9:103273400-103282200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr9:103273400-103289400	Weak transcription	H9 Cell Line	embryonic stem cell

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