Variant report

Variant	rs397833763
Chromosome Location	chr12:9437217-9437218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS 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	35 gene(s)	inside rSNPs	diseases
3	nsv523958	chr12:9303440-9549072	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription 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	23 gene(s)	inside rSNPs	diseases
4	nsv557355	chr12:9309995-9529015	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1035953	chr12:9314481-9544655	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
6	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
8	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
9	nsv916832	chr12:9397450-9693952	ZNF genes & repeats Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv976736	chr12:9431362-9524845	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv898740	chr12:9436446-9546962	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv983274	chr12:9436590-9439756	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1050161	chr12:9436635-9685768	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9435400-9437800	Active TSS	A549	lung
2	chr12:9435400-9464000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:9435600-9437800	Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr12:9435600-9437800	Active TSS	GM12878-XiMat	blood
5	chr12:9435800-9437400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:9435800-9437400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:9435800-9437400	Active TSS	Fetal Brain Female	brain
8	chr12:9435800-9437600	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr12:9435800-9437600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr12:9435800-9437800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:9435800-9437800	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr12:9435800-9437800	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr12:9435800-9437800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:9435800-9437800	Active TSS	K562	blood
15	chr12:9436000-9437400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr12:9436000-9437400	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr12:9436000-9437400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr12:9436000-9437400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr12:9436000-9437400	Active TSS	Brain Germinal Matrix	brain
20	chr12:9436000-9437400	Active TSS	Brain Hippocampus Middle	brain
21	chr12:9436000-9437400	Active TSS	Fetal Intestine Large	intestine
22	chr12:9436000-9437400	Active TSS	Fetal Muscle Trunk	muscle
23	chr12:9436000-9437400	Active TSS	Rectal Smooth Muscle	rectum
24	chr12:9436000-9437400	Active TSS	HepG2	liver
25	chr12:9436000-9437400	Active TSS	NH-A	brain
26	chr12:9436000-9437600	Active TSS	HMEC	breast
27	chr12:9436000-9437800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:9436000-9437800	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr12:9436000-9437800	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr12:9436000-9437800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:9436000-9437800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:9436200-9437400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:9436200-9437400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:9436200-9437400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:9436200-9437400	Active TSS	Muscle Satellite Cultured Cells	--
36	chr12:9436200-9437400	Active TSS	Duodenum Mucosa	Duodenum
37	chr12:9436200-9437400	Active TSS	Pancreas	Pancrea
38	chr12:9436200-9437400	Active TSS	Osteobl	bone
39	chr12:9436200-9437600	Active TSS	H9 Cell Line	embryonic stem cell
40	chr12:9436200-9437600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:9436200-9437600	Active TSS	Dnd41	blood
42	chr12:9436200-9460000	Weak transcription	Fetal Lung	lung
43	chr12:9436400-9464000	Weak transcription	Thymus	Thymus
44	chr12:9436600-9451200	Weak transcription	Spleen	Spleen
45	chr12:9437000-9437400	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr12:9437000-9437400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:9437000-9437800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr12:9437200-9437400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:9437200-9437400	Active TSS	Fetal Intestine Small	intestine
50	chr12:9437200-9437400	Active TSS	Hela-S3	cervix

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