Variant report

Variant	rs386763724
Chromosome Location	chr12:64238771-64238772
allele	C/GA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64235952..64238772-chr12:64614485..64617363,3	K562	blood:
2	chr12:64237304..64239476-chr12:64424891..64426645,2	MCF-7	breast:
3	chr12:64234247..64239748-chr12:64612699..64616990,14	MCF-7	breast:
4	chr12:64233673..64240233-chr12:64613167..64618011,13	MCF-7	breast:
5	chr12:64238646..64240219-chr12:64329765..64332123,2	MCF-7	breast:
6	chr12:64172802..64174995-chr12:64236940..64239856,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118600	Chromatin interaction
ENSG00000243024	Chromatin interaction
ENSG00000255780	Chromatin interaction
ENSG00000174206	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64236800-64238800	Active TSS	Fetal Brain Female	brain
2	chr12:64236800-64239600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:64236800-64239600	Active TSS	Brain Substantia Nigra	brain
4	chr12:64236800-64239600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:64236800-64240200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:64236800-64240800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:64237000-64239000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:64237000-64239000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:64237000-64239000	Active TSS	Rectal Smooth Muscle	rectum
10	chr12:64237000-64239200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:64237000-64239200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:64237000-64239200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:64237000-64239200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr12:64237000-64239400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:64237000-64239400	Active TSS	Colon Smooth Muscle	Colon
16	chr12:64237000-64239400	Active TSS	Stomach Smooth Muscle	stomach
17	chr12:64237000-64239600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr12:64237000-64239600	Active TSS	Brain Cingulate Gyrus	brain
19	chr12:64237000-64239600	Active TSS	Duodenum Mucosa	Duodenum
20	chr12:64237000-64239600	Active TSS	Fetal Lung	lung
21	chr12:64237000-64239600	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr12:64237000-64239600	Active TSS	Right Atrium	heart
23	chr12:64237000-64239600	Active TSS	Right Ventricle	heart
24	chr12:64237000-64239600	Active TSS	NH-A	brain
25	chr12:64237000-64239800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:64237000-64239800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:64237000-64239800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:64237000-64239800	Active TSS	Fetal Intestine Small	intestine
29	chr12:64237000-64239800	Active TSS	Left Ventricle	heart
30	chr12:64237000-64239800	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr12:64237000-64240000	Active TSS	Ovary	ovary
32	chr12:64237000-64240000	Active TSS	HMEC	breast
33	chr12:64237000-64240000	Active TSS	Osteobl	bone
34	chr12:64237000-64240200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:64237000-64240200	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr12:64237000-64240200	Active TSS	A549	lung
37	chr12:64237000-64240200	Active TSS	HSMMtube	muscle
38	chr12:64237000-64240200	Active TSS	NHLF	lung
39	chr12:64237000-64240400	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr12:64237000-64240400	Active TSS	Brain Anterior Caudate	brain
41	chr12:64237000-64240400	Active TSS	Pancreas	Pancrea
42	chr12:64237000-64240400	Active TSS	HSMM	muscle
43	chr12:64237000-64240600	Active TSS	Psoas Muscle	Psoas
44	chr12:64237200-64238800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
45	chr12:64237200-64238800	Active TSS	Placenta Amnion	Placenta Amnion
46	chr12:64237200-64239000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
47	chr12:64237200-64239200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:64237200-64239200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:64237200-64239200	Active TSS	Aorta	Aorta
50	chr12:64237200-64239600	Active TSS	Brain Hippocampus Middle	brain

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