Variant report

Variant	rs34524779
Chromosome Location	chr12:21926260-21926261
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21925815..21927686-chr12:21953359..21956118,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11835804	1.00[AMR][1000 genomes]
rs11837393	1.00[AMR][1000 genomes]
rs1352908	1.00[AMR][1000 genomes]
rs34811413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069167	1.00[AMR][1000 genomes]
rs74069169	1.00[AMR][1000 genomes]
rs74069170	1.00[AMR][1000 genomes]
rs7956490	1.00[AMR][1000 genomes]
rs7966926	1.00[AMR][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	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21916800-21926400	Weak transcription	Spleen	Spleen
2	chr12:21924400-21926400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:21925200-21928600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:21925800-21926400	Enhancers	Osteobl	bone
5	chr12:21925800-21928000	Active TSS	Fetal Kidney	kidney
6	chr12:21925800-21928600	Active TSS	Psoas Muscle	Psoas
7	chr12:21925800-21929200	Active TSS	Liver	Liver
8	chr12:21926000-21926800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
9	chr12:21926000-21927200	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr12:21926000-21928800	Active TSS	K562	blood
11	chr12:21926200-21926400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr12:21926200-21926400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr12:21926200-21926400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:21926200-21926400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:21926200-21926400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:21926200-21926400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:21926200-21926400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:21926200-21926400	Enhancers	Aorta	Aorta
19	chr12:21926200-21926400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
20	chr12:21926200-21926400	Active TSS	Brain Cingulate Gyrus	brain
21	chr12:21926200-21926400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
22	chr12:21926200-21926400	Active TSS	Duodenum Mucosa	Duodenum
23	chr12:21926200-21926400	Flanking Active TSS	Fetal Heart	heart
24	chr12:21926200-21926400	Flanking Active TSS	Fetal Lung	lung
25	chr12:21926200-21926400	Bivalent/Poised TSS	Fetal Stomach	stomach
26	chr12:21926200-21926400	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr12:21926200-21926400	Flanking Active TSS	NHDF-Ad	bronchial
28	chr12:21926200-21926600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:21926200-21926600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:21926200-21926600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:21926200-21926600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr12:21926200-21926600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:21926200-21926600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
34	chr12:21926200-21926600	Flanking Active TSS	Esophagus	oesophagus
35	chr12:21926200-21926600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
36	chr12:21926200-21926600	Flanking Active TSS	Gastric	stomach
37	chr12:21926200-21926600	Transcr. at gene 5' and 3'	Left Ventricle	heart
38	chr12:21926200-21926600	Flanking Active TSS	Lung	lung
39	chr12:21926200-21926600	Flanking Active TSS	Ovary	ovary
40	chr12:21926200-21926600	Flanking Active TSS	Pancreas	Pancrea
41	chr12:21926200-21926600	Flanking Active TSS	Right Atrium	heart
42	chr12:21926200-21926600	Flanking Active TSS	Right Ventricle	heart
43	chr12:21926200-21926600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
44	chr12:21926200-21926600	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr12:21926200-21926800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr12:21926200-21926800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:21926200-21926800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:21926200-21926800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr12:21926200-21926800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
50	chr12:21926200-21926800	Flanking Active TSS	NHLF	lung

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