Variant report

Variant	rs12343896
Chromosome Location	chr9:78912697-78912698
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv508552	chr9:78864913-78956326	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv893477	chr9:78892526-78932928	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	esv1010025	chr9:78912186-78922397	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78883000-78917200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:78903400-78917600	Weak transcription	Stomach Mucosa	stomach
3	chr9:78905800-78922400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:78906000-78912800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr9:78911400-78913000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr9:78911400-78913000	Enhancers	HSMM	muscle
7	chr9:78911600-78912800	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr9:78911600-78913400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:78911600-78913800	Genic enhancers	Fetal Intestine Small	intestine
10	chr9:78911800-78912800	Enhancers	Small Intestine	intestine
11	chr9:78911800-78913000	Flanking Active TSS	HSMMtube	muscle
12	chr9:78912000-78913000	Enhancers	Fetal Thymus	thymus
13	chr9:78912000-78913600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr9:78912000-78916000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr9:78912000-78917600	Strong transcription	Fetal Intestine Large	intestine
16	chr9:78912200-78912800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:78912200-78913000	Flanking Active TSS	Fetal Kidney	kidney
18	chr9:78912200-78913000	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr9:78912200-78913200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:78912200-78913200	Enhancers	Primary hematopoietic stem cells	blood
21	chr9:78912200-78913200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:78912200-78913200	Enhancers	Placenta	Placenta
23	chr9:78912200-78913400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:78912200-78913400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:78912200-78913400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr9:78912200-78913800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr9:78912200-78913800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr9:78912400-78912800	Active TSS	Primary T cells from cord blood	blood
29	chr9:78912400-78912800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr9:78912400-78912800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:78912400-78912800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:78912400-78912800	Active TSS	Thymus	Thymus
33	chr9:78912400-78912800	Enhancers	NH-A	brain
34	chr9:78912400-78913000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
35	chr9:78912400-78913000	Active TSS	Colon Smooth Muscle	Colon
36	chr9:78912400-78913000	Flanking Active TSS	Fetal Stomach	stomach
37	chr9:78912400-78913200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:78912400-78913200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:78912400-78913200	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr9:78912400-78913400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr9:78912400-78913400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:78912400-78913400	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr9:78912400-78913400	Flanking Active TSS	NHDF-Ad	bronchial
44	chr9:78912400-78913800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr9:78912400-78927800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr9:78912600-78912800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr9:78912600-78912800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr9:78912600-78912800	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr9:78912600-78912800	Enhancers	Right Atrium	heart
50	chr9:78912600-78912800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach

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