Variant report

Variant	rs556513439
Chromosome Location	chr3:138101755-138101756
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	chr3:138099681..138102999-chr3:138104936..138107535,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	esv1796956	chr3:138051423-138122781	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1848610	chr3:138051423-138133412	Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1797142	chr3:138087467-138122781	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1845560	chr3:138087467-138133412	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3447663	chr3:138096329-138273034	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv460864	chr3:138100539-138194435	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv591853	chr3:138100539-138194435	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138076000-138108200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:138081600-138108200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:138089400-138102400	Weak transcription	Spleen	Spleen
4	chr3:138090400-138119400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:138094000-138104800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:138097600-138116000	Weak transcription	Aorta	Aorta
7	chr3:138097600-138116600	Weak transcription	Brain Germinal Matrix	brain
8	chr3:138098200-138104200	Enhancers	Fetal Heart	heart
9	chr3:138098400-138103800	Enhancers	Brain Substantia Nigra	brain
10	chr3:138098600-138102600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr3:138099200-138104000	Enhancers	Right Ventricle	heart
12	chr3:138099600-138103200	Enhancers	Brain Hippocampus Middle	brain
13	chr3:138099600-138105200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr3:138099800-138101800	Enhancers	Rectal Smooth Muscle	rectum
15	chr3:138099800-138102000	Genic enhancers	HSMM	muscle
16	chr3:138099800-138103800	Enhancers	Adipose Nuclei	Adipose
17	chr3:138099800-138103800	Enhancers	Brain Anterior Caudate	brain
18	chr3:138099800-138103800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr3:138099800-138103800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr3:138099800-138104000	Enhancers	Left Ventricle	heart
21	chr3:138099800-138104200	Enhancers	Placenta	Placenta
22	chr3:138099800-138104200	Enhancers	Right Atrium	heart
23	chr3:138100000-138101800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr3:138100000-138102600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:138100000-138102600	Enhancers	Colon Smooth Muscle	Colon
26	chr3:138100000-138103600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:138100000-138103800	Enhancers	Brain Angular Gyrus	brain
28	chr3:138100000-138103800	Enhancers	Brain Cingulate Gyrus	brain
29	chr3:138100000-138104000	Genic enhancers	HSMMtube	muscle
30	chr3:138100200-138101800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:138100200-138102000	Enhancers	Esophagus	oesophagus
32	chr3:138100200-138102000	Enhancers	Lung	lung
33	chr3:138100200-138102200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr3:138100200-138102200	Enhancers	HMEC	breast
35	chr3:138100200-138102400	Enhancers	Psoas Muscle	Psoas
36	chr3:138100200-138103000	Enhancers	Ovary	ovary
37	chr3:138100400-138101800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:138100400-138101800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:138100400-138101800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:138100400-138101800	Enhancers	Pancreas	Pancrea
41	chr3:138100400-138101800	Enhancers	NHEK	skin
42	chr3:138100400-138102000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:138100400-138102000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:138100400-138102600	Enhancers	HepG2	liver
45	chr3:138100600-138101800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:138100600-138101800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:138100600-138102200	Strong transcription	Fetal Brain Female	brain
48	chr3:138100800-138101800	Enhancers	Fetal Muscle Leg	muscle
49	chr3:138101000-138102200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:138101200-138103200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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