Variant report

Variant	rs553044517
Chromosome Location	chr12:64238837-64238838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64237304..64239476-chr12:64424891..64426645,2	MCF-7	breast:
2	chr12:64234247..64239748-chr12:64612699..64616990,14	MCF-7	breast:
3	chr12:64233673..64240233-chr12:64613167..64618011,13	MCF-7	breast:
4	chr12:64238646..64240219-chr12:64329765..64332123,2	MCF-7	breast:
5	chr12:64172802..64174995-chr12:64236940..64239856,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174206	Chromatin interaction
ENSG00000243024	Chromatin interaction
ENSG00000118600	Chromatin interaction
ENSG00000255780	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv1810729	chr12:64234926-64268005	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
8	esv3360781	chr12:64236510-64239058	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
9	esv1797043	chr12:64237504-64256568	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
10	esv1833454	chr12:64237504-64264837	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64236800-64239600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:64236800-64239600	Active TSS	Brain Substantia Nigra	brain
3	chr12:64236800-64239600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:64236800-64240200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:64236800-64240800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:64237000-64239000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:64237000-64239000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:64237000-64239000	Active TSS	Rectal Smooth Muscle	rectum
9	chr12:64237000-64239200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:64237000-64239200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:64237000-64239200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:64237000-64239200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr12:64237000-64239400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:64237000-64239400	Active TSS	Colon Smooth Muscle	Colon
15	chr12:64237000-64239400	Active TSS	Stomach Smooth Muscle	stomach
16	chr12:64237000-64239600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:64237000-64239600	Active TSS	Brain Cingulate Gyrus	brain
18	chr12:64237000-64239600	Active TSS	Duodenum Mucosa	Duodenum
19	chr12:64237000-64239600	Active TSS	Fetal Lung	lung
20	chr12:64237000-64239600	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr12:64237000-64239600	Active TSS	Right Atrium	heart
22	chr12:64237000-64239600	Active TSS	Right Ventricle	heart
23	chr12:64237000-64239600	Active TSS	NH-A	brain
24	chr12:64237000-64239800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:64237000-64239800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:64237000-64239800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:64237000-64239800	Active TSS	Fetal Intestine Small	intestine
28	chr12:64237000-64239800	Active TSS	Left Ventricle	heart
29	chr12:64237000-64239800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr12:64237000-64240000	Active TSS	Ovary	ovary
31	chr12:64237000-64240000	Active TSS	HMEC	breast
32	chr12:64237000-64240000	Active TSS	Osteobl	bone
33	chr12:64237000-64240200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:64237000-64240200	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr12:64237000-64240200	Active TSS	A549	lung
36	chr12:64237000-64240200	Active TSS	HSMMtube	muscle
37	chr12:64237000-64240200	Active TSS	NHLF	lung
38	chr12:64237000-64240400	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr12:64237000-64240400	Active TSS	Brain Anterior Caudate	brain
40	chr12:64237000-64240400	Active TSS	Pancreas	Pancrea
41	chr12:64237000-64240400	Active TSS	HSMM	muscle
42	chr12:64237000-64240600	Active TSS	Psoas Muscle	Psoas
43	chr12:64237200-64239000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
44	chr12:64237200-64239200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:64237200-64239200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:64237200-64239200	Active TSS	Aorta	Aorta
47	chr12:64237200-64239600	Active TSS	Brain Hippocampus Middle	brain
48	chr12:64237200-64239600	Active TSS	Fetal Kidney	kidney
49	chr12:64237200-64239600	Active TSS	Fetal Stomach	stomach
50	chr12:64237200-64239800	Active TSS	Stomach Mucosa	stomach

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