Variant report

Variant	rs12004182
Chromosome Location	chr9:8731092-8731093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10977265	0.81[AMR][1000 genomes]
rs12001740	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12002364	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2137348	1.00[EUR][1000 genomes]
rs57272088	1.00[EUR][1000 genomes]
rs58302765	1.00[EUR][1000 genomes]
rs73429611	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73640939	1.00[EUR][1000 genomes]
rs73640943	1.00[EUR][1000 genomes]
rs73640944	1.00[EUR][1000 genomes]
rs7858090	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022796	chr9:8360729-9110046	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv892235	chr9:8700396-8865925	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv6474	chr9:8706602-8751414	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1025800	chr9:8712487-9030627	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv539980	chr9:8712487-9030627	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8704400-8731800	Weak transcription	Fetal Lung	lung
2	chr9:8710600-8733600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:8716200-8732600	Weak transcription	Fetal Brain Female	brain
4	chr9:8718400-8733600	Weak transcription	Psoas Muscle	Psoas
5	chr9:8718800-8732800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:8719000-8733200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:8719000-8733200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:8720600-8731800	Weak transcription	Brain Anterior Caudate	brain
9	chr9:8720600-8732600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:8721000-8732200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:8722000-8744600	Weak transcription	Dnd41	blood
12	chr9:8723400-8732800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr9:8724800-8732400	Weak transcription	Brain Substantia Nigra	brain
14	chr9:8724800-8733400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr9:8725000-8732200	Weak transcription	Fetal Muscle Leg	muscle
16	chr9:8725000-8733200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:8725000-8733600	Weak transcription	Ovary	ovary
18	chr9:8725800-8733200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:8727000-8733600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:8727600-8731800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr9:8727600-8733200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:8727800-8731800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:8727800-8732800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr9:8727800-8732800	Weak transcription	Fetal Kidney	kidney
25	chr9:8727800-8733200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr9:8727800-8733400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr9:8730000-8732800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:8730400-8731200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr9:8730400-8731400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:8730800-8731200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr9:8730800-8731200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:8730800-8731200	Enhancers	Primary hematopoietic stem cells	blood
33	chr9:8730800-8731200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:8730800-8731400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr9:8730800-8731400	Enhancers	Brain Angular Gyrus	brain
36	chr9:8730800-8733200	Enhancers	Brain Germinal Matrix	brain
37	chr9:8730800-8733200	Enhancers	Brain Hippocampus Middle	brain
38	chr9:8730800-8733400	Enhancers	Brain Cingulate Gyrus	brain
39	chr9:8731000-8732400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr9:8731000-8732800	Weak transcription	Fetal Brain Male	brain
41	chr9:8731000-8733200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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