Variant report

Variant	rs12379183
Chromosome Location	chr9:16865699-16865700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12682783	0.95[ASN][1000 genomes]
rs12683636	0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[ASN][1000 genomes]
rs1339549	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[ASN][1000 genomes]
rs35336333	1.00[ASN][1000 genomes]
rs7031867	1.00[CHB][hapmap]
rs7861573	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv892650	chr9:16696187-16950860	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv892651	chr9:16816755-16869240	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv892652	chr9:16843128-16958312	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	nsv892653	chr9:16848790-16895610	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
6	esv1814340	chr9:16851678-16865699	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16860800-16867800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr9:16862400-16868000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:16864200-16867600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:16864400-16865800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:16864400-16865800	Enhancers	A549	lung
6	chr9:16864400-16866000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:16864400-16867800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr9:16864400-16867800	Enhancers	NHDF-Ad	bronchial
9	chr9:16864400-16868000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr9:16864600-16865800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr9:16864600-16866600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:16864600-16867800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr9:16864800-16866400	Enhancers	Rectal Smooth Muscle	rectum
14	chr9:16864800-16869200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:16864800-16869400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:16865000-16866400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:16865000-16866400	Weak transcription	Ovary	ovary
18	chr9:16865000-16866800	Weak transcription	NHEK	skin
19	chr9:16865000-16867400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:16865000-16867400	Enhancers	Fetal Lung	lung
21	chr9:16865000-16867600	Weak transcription	Psoas Muscle	Psoas
22	chr9:16865000-16867800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr9:16865000-16867800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr9:16865000-16867800	Weak transcription	Fetal Muscle Leg	muscle
25	chr9:16865000-16867800	Enhancers	Osteobl	bone
26	chr9:16865000-16868000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr9:16865000-16868400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr9:16865000-16869400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:16865000-16869400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr9:16865000-16872000	Active TSS	Stomach Smooth Muscle	stomach
31	chr9:16865200-16865800	Enhancers	NHLF	lung
32	chr9:16865200-16866200	Enhancers	HSMM	muscle
33	chr9:16865200-16866400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr9:16865200-16866400	Weak transcription	Fetal Kidney	kidney
35	chr9:16865200-16866600	Weak transcription	Adipose Nuclei	Adipose
36	chr9:16865200-16867000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr9:16865200-16868000	Weak transcription	Right Atrium	heart
38	chr9:16865200-16868000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr9:16865400-16866400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr9:16865400-16866400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:16865400-16866400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:16865400-16866400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr9:16865400-16867400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:16865600-16866400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr9:16865600-16866400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:16865600-16866400	Weak transcription	Fetal Stomach	stomach
47	chr9:16865600-16866400	Weak transcription	HSMMtube	muscle
48	chr9:16865600-16866600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:16865600-16866600	Weak transcription	Colon Smooth Muscle	Colon
50	chr9:16865600-16866800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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