Variant report

Variant	rs370643083
Chromosome Location	chr12:9437778-9437779
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:53 , 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	chr12:9435800-9437800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:9435800-9437800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr12:9435800-9437800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:9435800-9437800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:9435800-9437800	Active TSS	K562	blood
10	chr12:9436000-9437800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:9436000-9437800	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr12:9436000-9437800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr12:9436000-9437800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:9436000-9437800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:9436200-9460000	Weak transcription	Fetal Lung	lung
16	chr12:9436400-9464000	Weak transcription	Thymus	Thymus
17	chr12:9436600-9451200	Weak transcription	Spleen	Spleen
18	chr12:9437000-9437800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr12:9437200-9437800	Enhancers	Primary B cells from cord blood	blood
20	chr12:9437200-9437800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr12:9437200-9437800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:9437200-9442600	Weak transcription	Fetal Thymus	thymus
23	chr12:9437200-9446800	Weak transcription	Lung	lung
24	chr12:9437200-9447200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:9437200-9447400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:9437200-9451800	Weak transcription	Fetal Stomach	stomach
27	chr12:9437200-9457000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:9437200-9457200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:9437200-9457200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:9437200-9460600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:9437200-9461200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:9437200-9462800	Weak transcription	Esophagus	oesophagus
33	chr12:9437200-9465600	Weak transcription	Ovary	ovary
34	chr12:9437200-9467600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:9437200-9472400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:9437200-9485200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:9437400-9437800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:9437400-9437800	Enhancers	Fetal Intestine Large	intestine
39	chr12:9437400-9437800	Enhancers	Fetal Intestine Small	intestine
40	chr12:9437400-9437800	Enhancers	HUVEC	blood vessel
41	chr12:9437400-9446600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:9437400-9456800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:9437400-9456800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr12:9437400-9458600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:9437400-9467800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:9437400-9468000	Weak transcription	Pancreas	Pancrea
47	chr12:9437400-9470800	Weak transcription	Brain Germinal Matrix	brain
48	chr12:9437600-9437800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr12:9437600-9437800	Flanking Active TSS	Dnd41	blood
50	chr12:9437600-9437800	Flanking Active TSS	HMEC	breast

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