Variant report

Variant	rs550288965
Chromosome Location	chr12:26263606-26263607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26259059..26261551-chr12:26262901..26265223,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898932	chr12:26262137-26283482	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv898933	chr12:26262137-26285006	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26251000-26265800	Weak transcription	HSMM	muscle
2	chr12:26255600-26264400	Weak transcription	Fetal Intestine Small	intestine
3	chr12:26258200-26265000	Weak transcription	Fetal Intestine Large	intestine
4	chr12:26261800-26263800	Enhancers	Fetal Muscle Leg	muscle
5	chr12:26262200-26266000	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:26262400-26265400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:26262600-26265400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:26262600-26265400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr12:26262600-26265600	Weak transcription	Placenta	Placenta
10	chr12:26262600-26265800	Weak transcription	Left Ventricle	heart
11	chr12:26262600-26266600	Weak transcription	Right Atrium	heart
12	chr12:26262600-26266800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:26262800-26265600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:26262800-26265800	Weak transcription	Stomach Mucosa	stomach
15	chr12:26262800-26266200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:26262800-26266800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:26262800-26266800	Weak transcription	Pancreas	Pancrea
18	chr12:26263000-26265200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:26263000-26266000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:26263000-26266400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr12:26263200-26263800	Enhancers	Fetal Thymus	thymus
22	chr12:26263400-26266200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:26263400-26266200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr12:26263400-26266600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:26263400-26267000	Weak transcription	Spleen	Spleen
26	chr12:26263600-26264600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:26263600-26264600	Weak transcription	Psoas Muscle	Psoas
28	chr12:26263600-26265600	Weak transcription	Adipose Nuclei	Adipose
29	chr12:26263600-26265800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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