Variant report

Variant	rs544687852
Chromosome Location	chr3:178789151-178789152
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:178788412..178790187-chr3:179039067..179041157,2	MCF-7	breast:
2	chr3:178787120..178791261-chr3:179039253..179041998,3	K562	blood:
3	chr3:178788594..178790647-chr3:179063924..179066564,2	K562	blood:
4	chr3:178787966..178791118-chr3:178865051..178866959,3	MCF-7	breast:
5	chr3:178787639..178789990-chr3:179064273..179066880,2	MCF-7	breast:
6	chr3:178788554..178791044-chr3:178814072..178816691,3	MCF-7	breast:
7	chr3:178786925..178790579-chr3:178864297..178867679,5	K562	blood:
8	chr3:178788447..178791036-chr3:178864497..178866649,2	MCF-7	breast:
9	chr3:178787618..178789818-chr3:179039518..179042108,2	K562	blood:
10	chr3:178787982..178790546-chr3:179037129..179041546,5	MCF-7	breast:
11	chr3:178787758..178789707-chr3:178977770..178980269,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171109	Chromatin interaction
ENSG00000121879	Chromatin interaction
ENSG00000240429	Chromatin interaction
ENSG00000121864	Chromatin interaction
ENSG00000200616	Chromatin interaction
ENSG00000229102	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv1792927	chr3:178734558-178877169	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv1841799	chr3:178739594-178884337	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv3325944	chr3:178788483-178791031	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178785600-178790000	Active TSS	GM12878-XiMat	blood
2	chr3:178786600-178789200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:178786600-178790200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr3:178786800-178789800	Active TSS	NH-A	brain
5	chr3:178787000-178789600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:178787000-178789800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr3:178787000-178789800	Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr3:178787000-178790000	Active TSS	NHDF-Ad	bronchial
9	chr3:178787000-178790200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:178787000-178790200	Active TSS	HSMMtube	muscle
11	chr3:178787000-178790400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:178787200-178789800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:178787200-178790200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr3:178787200-178790200	Active TSS	NHLF	lung
15	chr3:178787200-178790400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:178787400-178789800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:178787400-178789800	Active TSS	HMEC	breast
18	chr3:178787400-178790000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:178787400-178790200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:178787400-178790200	Active TSS	Thymus	Thymus
21	chr3:178787400-178790400	Active TSS	A549	lung
22	chr3:178787600-178789200	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr3:178787600-178789800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:178787600-178789800	Active TSS	Muscle Satellite Cultured Cells	--
25	chr3:178787600-178789800	Active TSS	HSMM	muscle
26	chr3:178787600-178790200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:178787600-178790400	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr3:178787800-178789400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:178787800-178789400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:178787800-178790200	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr3:178787800-178790200	Active TSS	Aorta	Aorta
32	chr3:178787800-178790200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:178787800-178790400	Active TSS	Brain Hippocampus Middle	brain
34	chr3:178788000-178790400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:178788000-178790400	Active TSS	Brain Substantia Nigra	brain
36	chr3:178788200-178790400	Active TSS	Brain Cingulate Gyrus	brain
37	chr3:178788200-178790400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr3:178788400-178789200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr3:178788400-178789200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr3:178788400-178789200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr3:178788400-178789200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr3:178788400-178789200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:178788400-178789200	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr3:178788400-178789200	Flanking Active TSS	Liver	Liver
45	chr3:178788400-178789200	Flanking Active TSS	Dnd41	blood
46	chr3:178788400-178789200	Flanking Active TSS	K562	blood
47	chr3:178788400-178789400	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr3:178788400-178789800	Active TSS	H1 Cell Line	embryonic stem cell
49	chr3:178788400-178789800	Active TSS	Fetal Lung	lung
50	chr3:178788400-178790000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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