Variant report

Variant	rs12378165
Chromosome Location	chr9:115807942-115807943
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10817436	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs10981608	0.84[ASN][1000 genomes]
rs10981609	0.83[ASN][1000 genomes]
rs12003447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1819426	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs2274761	0.96[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1047000	chr9:115610445-115884038	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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
4	nsv466491	chr9:115745205-115814473	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv831691	chr9:115754699-115929459	Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1048246	chr9:115759281-115821188	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv540198	chr9:115759281-115821188	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv1039564	chr9:115769553-115821327	Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv540199	chr9:115769553-115821327	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv1042280	chr9:115769753-115821188	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv540200	chr9:115769753-115821188	ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv517282	chr9:115775168-115815398	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
13	nsv615204	chr9:115775739-115815398	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
14	nsv1037784	chr9:115777096-115820554	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
15	esv2764155	chr9:115777108-115820566	Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
16	nsv508563	chr9:115800632-115855728	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115793000-115822200	ZNF genes & repeats	Liver	Liver
2	chr9:115795800-115817800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:115798800-115818200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr9:115799600-115820400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr9:115799800-115817600	ZNF genes & repeats	Brain Hippocampus Middle	brain
6	chr9:115799800-115818200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:115800600-115812400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:115801600-115808200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr9:115801800-115817400	ZNF genes & repeats	Brain Germinal Matrix	brain
10	chr9:115802000-115818000	ZNF genes & repeats	Brain Anterior Caudate	brain
11	chr9:115802200-115812400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr9:115802200-115813400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:115802200-115815400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr9:115802400-115814800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
15	chr9:115802400-115815600	ZNF genes & repeats	Brain Substantia Nigra	brain
16	chr9:115802600-115812200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
17	chr9:115803200-115813000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr9:115803200-115817600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:115803200-115817800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:115803200-115817800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
21	chr9:115803200-115817800	ZNF genes & repeats	Fetal Brain Female	brain
22	chr9:115803200-115818000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:115803400-115812400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:115803600-115809000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
25	chr9:115803600-115812200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr9:115803600-115812400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:115803600-115813000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
28	chr9:115803600-115815400	ZNF genes & repeats	Colon Smooth Muscle	Colon
29	chr9:115803600-115815600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr9:115803800-115809000	Weak transcription	Pancreas	Pancrea
31	chr9:115804200-115812200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
32	chr9:115804400-115809000	Weak transcription	Lung	lung
33	chr9:115804400-115809200	ZNF genes & repeats	HSMM	muscle
34	chr9:115804800-115808600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:115804800-115811400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr9:115804800-115812400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
37	chr9:115804800-115812600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
38	chr9:115805000-115808200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
39	chr9:115805000-115811600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
40	chr9:115805000-115812000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
41	chr9:115805000-115812400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr9:115805000-115812400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr9:115805000-115812400	ZNF genes & repeats	Psoas Muscle	Psoas
44	chr9:115805000-115815400	ZNF genes & repeats	Left Ventricle	heart
45	chr9:115805000-115818200	ZNF genes & repeats	Fetal Lung	lung
46	chr9:115805200-115808200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
47	chr9:115805200-115809000	ZNF genes & repeats	Fetal Kidney	kidney
48	chr9:115805200-115809200	ZNF genes & repeats	NH-A	brain
49	chr9:115805200-115812400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
50	chr9:115805200-115812400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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