Variant report

Variant	rs11674683
Chromosome Location	chr2:48773734-48773735
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48767423..48771041-chr2:48771579..48775293,4	K562	blood:
2	chr2:48773207..48775322-chr2:48777456..48778973,2	K562	blood:
3	chr2:48676760..48679121-chr2:48771521..48774088,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11675947	1.00[AFR][1000 genomes]
rs11677350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11678934	0.87[CEU][hapmap];1.00[AFR][1000 genomes]
rs11682008	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11682838	1.00[AFR][1000 genomes]
rs11683259	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11688465	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11690526	0.87[CEU][hapmap]
rs11691302	1.00[AFR][1000 genomes]
rs11691407	1.00[AFR][1000 genomes]
rs11692537	0.87[CEU][hapmap]
rs11694094	1.00[AFR][1000 genomes]
rs11694955	1.00[AFR][1000 genomes]
rs17325698	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17397707	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4364065	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1007491	chr2:48752185-48796441	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv535683	chr2:48752185-48796441	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv581776	chr2:48763382-48913019	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1000419	chr2:48766957-48795327	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1010494	chr2:48767055-49027310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48759000-48775200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:48759000-48787000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:48759000-48787400	Weak transcription	Psoas Muscle	Psoas
4	chr2:48759000-48827600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:48759200-48793200	Weak transcription	Fetal Lung	lung
6	chr2:48759400-48775200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:48762600-48775000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:48766800-48779600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:48767200-48807800	Weak transcription	Aorta	Aorta
10	chr2:48767400-48775200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:48767800-48776400	Weak transcription	Fetal Stomach	stomach
12	chr2:48768000-48787600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:48768000-48793800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:48768600-48777000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:48769000-48776000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:48769400-48774400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:48769400-48778800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:48769400-48780200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:48769800-48778200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:48770800-48776800	Enhancers	Colon Smooth Muscle	Colon
21	chr2:48771000-48781200	Weak transcription	HSMMtube	muscle
22	chr2:48771200-48777600	Weak transcription	Adipose Nuclei	Adipose
23	chr2:48771600-48776000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:48771800-48774200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:48771800-48774400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:48771800-48775400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:48772000-48775200	Weak transcription	Osteobl	bone
28	chr2:48772000-48775400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:48772400-48773800	Enhancers	Fetal Heart	heart
30	chr2:48772400-48773800	Enhancers	Right Atrium	heart
31	chr2:48772400-48776800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:48772600-48788000	Weak transcription	Lung	lung
33	chr2:48772800-48774400	Weak transcription	Placenta	Placenta
34	chr2:48772800-48776600	Enhancers	Rectal Smooth Muscle	rectum
35	chr2:48772800-48778600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:48772800-48787400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:48772800-48787600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:48773000-48774400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:48773000-48776800	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:48773000-48785400	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:48773000-48787200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:48773000-48808800	Weak transcription	Right Ventricle	heart
43	chr2:48773400-48775200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:48773600-48774200	Weak transcription	Esophagus	oesophagus
45	chr2:48773600-48774400	Weak transcription	Left Ventricle	heart
46	chr2:48773600-48775200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:48773600-48776400	Weak transcription	Ovary	ovary
48	chr2:48773600-48787600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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