Variant report

Variant	rs193212653
Chromosome Location	chr3:138043209-138043210
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	chr3:138042389..138044114-chr3:138065779..138068075,2	K562	blood:

Variant related genes	Relation type
ENSG00000158186	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1821595	chr3:138043128-138055402	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138028800-138046600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:138035600-138046800	Weak transcription	Brain Anterior Caudate	brain
3	chr3:138038600-138048200	Weak transcription	Gastric	stomach
4	chr3:138041000-138043400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:138041400-138043400	Enhancers	Primary T cells from cord blood	blood
6	chr3:138041400-138044200	Enhancers	Adipose Nuclei	Adipose
7	chr3:138041400-138047400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:138041600-138044000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:138041600-138045200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr3:138041600-138047400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:138041800-138043400	Enhancers	Right Atrium	heart
12	chr3:138041800-138043800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:138041800-138047400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:138041800-138047400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:138042000-138046600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr3:138042000-138047400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr3:138042000-138047400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr3:138042000-138048000	Weak transcription	Esophagus	oesophagus
19	chr3:138042200-138043400	Enhancers	Psoas Muscle	Psoas
20	chr3:138042200-138047200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr3:138042400-138043800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr3:138042400-138045200	Weak transcription	Placenta	Placenta
23	chr3:138042400-138047400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr3:138042400-138047400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr3:138042400-138047400	Enhancers	NHEK	skin
26	chr3:138042600-138043400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:138042600-138044200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:138042600-138047400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:138042800-138043600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:138042800-138043800	Enhancers	HMEC	breast
31	chr3:138042800-138044000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:138042800-138044000	Enhancers	HUVEC	blood vessel
33	chr3:138042800-138044200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:138042800-138044200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:138042800-138047200	Weak transcription	Brain Hippocampus Middle	brain
36	chr3:138043000-138043400	Enhancers	K562	blood
37	chr3:138043000-138043600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:138043200-138043400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:138043200-138043400	Enhancers	Brain Substantia Nigra	brain
40	chr3:138043200-138043600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:138043200-138046800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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