Variant report

Variant	rs10688391
Chromosome Location	chr12:65083026-65083027
allele	-/GT/GTGTGTGTGT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65081919..65084016-chr12:65085608..65087815,2	MCF-7	breast:
2	chr12:65082042..65085864-chr12:65087016..65092187,5	K562	blood:
3	chr12:65082782..65085440-chr12:65086852..65090149,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268028	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv899209	chr12:65068686-65184236	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv899210	chr12:65076498-65184236	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv524627	chr12:65082330-65091031	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65068400-65087200	Weak transcription	Liver	Liver
2	chr12:65070000-65085200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:65070000-65092400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:65075000-65108400	Weak transcription	NH-A	brain
5	chr12:65075200-65087400	Weak transcription	HMEC	breast
6	chr12:65075400-65088600	Weak transcription	Esophagus	oesophagus
7	chr12:65077000-65085000	Weak transcription	Hela-S3	cervix
8	chr12:65077000-65086800	Weak transcription	Osteobl	bone
9	chr12:65077000-65091800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:65077200-65085000	Weak transcription	Fetal Kidney	kidney
11	chr12:65077200-65088200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:65077200-65088600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:65077200-65091800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:65077200-65106800	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:65077400-65085200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:65077400-65088600	Weak transcription	Ovary	ovary
17	chr12:65077400-65091800	Weak transcription	Brain Anterior Caudate	brain
18	chr12:65077400-65114800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:65077600-65091800	Weak transcription	Brain Substantia Nigra	brain
20	chr12:65078400-65083400	Strong transcription	GM12878-XiMat	blood
21	chr12:65078400-65083600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:65078400-65084400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr12:65078600-65088600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:65078600-65089200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr12:65078600-65092200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr12:65078800-65092400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
27	chr12:65079000-65083400	Strong transcription	Fetal Intestine Large	intestine
28	chr12:65079000-65083400	Strong transcription	Dnd41	blood
29	chr12:65079000-65092000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:65079200-65083600	Genic enhancers	Primary T cells from cord blood	blood
31	chr12:65079200-65091600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr12:65079200-65092200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr12:65079800-65087800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:65080000-65113600	Weak transcription	Colonic Mucosa	Colon
35	chr12:65080200-65085600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:65081200-65083600	Enhancers	Colon Smooth Muscle	Colon
37	chr12:65081400-65083200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr12:65081400-65083400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:65081400-65083400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
40	chr12:65081400-65083400	Enhancers	Fetal Heart	heart
41	chr12:65081600-65083400	Genic enhancers	Stomach Smooth Muscle	stomach
42	chr12:65081800-65083200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr12:65081800-65085200	Weak transcription	Fetal Lung	lung
44	chr12:65081800-65100400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr12:65082000-65083600	Strong transcription	A549	lung
46	chr12:65082000-65085000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr12:65082000-65085200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:65082000-65088200	Weak transcription	Stomach Mucosa	stomach
49	chr12:65082000-65089600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:65082200-65083400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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