Variant report

Variant	rs12378368
Chromosome Location	chr9:8718161-8718162
allele	C/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:5)

rs_ID	r²[population]
rs10977260	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16928318	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62528767	0.87[AMR][1000 genomes]
rs62530714	0.87[AMR][1000 genomes]
rs62530715	0.87[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:46 , 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	chr9:8712000-8718200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr9:8715000-8718600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr9:8715400-8723000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:8715600-8719000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr9:8715600-8720200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr9:8716200-8720200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:8716200-8732600	Weak transcription	Fetal Brain Female	brain
10	chr9:8716400-8719400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:8717000-8718200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:8717000-8721000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr9:8717200-8718600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr9:8717200-8719200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr9:8717200-8721000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:8717400-8718600	Enhancers	NH-A	brain
17	chr9:8717400-8719000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:8717400-8719000	Enhancers	Brain Substantia Nigra	brain
19	chr9:8717400-8719200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:8717400-8719600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:8717400-8719800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr9:8717400-8720200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:8717600-8718400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:8717600-8718600	Enhancers	Brain Angular Gyrus	brain
25	chr9:8717600-8718800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr9:8717800-8718400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr9:8717800-8718400	Enhancers	Psoas Muscle	Psoas
28	chr9:8717800-8719000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:8717800-8719000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:8717800-8719000	Enhancers	Osteobl	bone
31	chr9:8717800-8719200	Enhancers	Brain Hippocampus Middle	brain
32	chr9:8717800-8720000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:8717800-8723400	Enhancers	Primary hematopoietic stem cells	blood
34	chr9:8718000-8718200	Enhancers	HSMM	muscle
35	chr9:8718000-8718400	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr9:8718000-8718600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:8718000-8718600	Enhancers	Brain Anterior Caudate	brain
38	chr9:8718000-8718600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr9:8718000-8718800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:8718000-8719000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr9:8718000-8719000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr9:8718000-8719000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:8718000-8719000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:8718000-8719000	Enhancers	NHLF	lung
45	chr9:8718000-8721400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:8718000-8724600	Weak transcription	H9 Cell Line	embryonic stem cell

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