Variant report

Variant	rs397720061
Chromosome Location	chr3:113233188-113233189
allele	-/AG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:113229615..113239929-chr3:113247196..113257849,45	MCF-7	breast:
2	chr3:112279637..112281423-chr3:113232414..113235211,2	K562	blood:
3	chr3:113232695..113235446-chr3:113249011..113251267,3	K562	blood:
4	chr3:112709917..112711539-chr3:113232036..113234156,2	K562	blood:
5	chr3:113232788..113235774-chr3:113464780..113467765,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272844	Chromatin interaction
ENSG00000144848	Chromatin interaction
ENSG00000138459	Chromatin interaction
ENSG00000072858	Chromatin interaction
ENSG00000163607	Chromatin interaction
ENSG00000114573	Chromatin interaction
ENSG00000121579	Chromatin interaction
ENSG00000242659	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv877349	chr3:113208224-113323787	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv877350	chr3:113208224-113332235	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	esv2050626	chr3:113233186-113233188	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv1027928	chr3:113233187-113233189	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113176400-113233200	Weak transcription	Gastric	stomach
2	chr3:113184000-113233200	Weak transcription	Pancreas	Pancrea
3	chr3:113204600-113233200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:113204600-113233200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:113204600-113233200	Weak transcription	Esophagus	oesophagus
6	chr3:113204800-113233200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:113210200-113233200	Weak transcription	Colonic Mucosa	Colon
8	chr3:113225000-113233200	Weak transcription	Spleen	Spleen
9	chr3:113225200-113233200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:113225400-113233200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:113225400-113233200	Weak transcription	Aorta	Aorta
12	chr3:113225400-113233200	Weak transcription	Placenta	Placenta
13	chr3:113225400-113233200	Weak transcription	Left Ventricle	heart
14	chr3:113225400-113233200	Weak transcription	Ovary	ovary
15	chr3:113232000-113233400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:113232400-113233200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:113232400-113233200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:113232400-113233400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:113232400-113233400	Flanking Active TSS	Dnd41	blood
20	chr3:113232400-113235200	Active TSS	A549	lung
21	chr3:113232600-113233200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:113232600-113233200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr3:113232600-113233200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr3:113232600-113233400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:113232600-113233400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr3:113232600-113233400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr3:113232600-113233400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr3:113232600-113233600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr3:113232600-113234000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:113232600-113234400	Active TSS	HMEC	breast
31	chr3:113232600-113234600	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr3:113232600-113234600	Active TSS	GM12878-XiMat	blood
33	chr3:113232600-113234600	Active TSS	K562	blood
34	chr3:113232600-113234600	Active TSS	Osteobl	bone
35	chr3:113232600-113234800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:113232600-113234800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:113232600-113234800	Active TSS	Right Ventricle	heart
38	chr3:113232600-113235000	Active TSS	Thymus	Thymus
39	chr3:113232600-113235000	Active TSS	NHLF	lung
40	chr3:113232800-113233200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr3:113232800-113233200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr3:113232800-113233200	Enhancers	Primary B cells from peripheral blood	blood
43	chr3:113232800-113233200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:113232800-113233200	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr3:113232800-113233200	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr3:113232800-113233200	Flanking Active TSS	Fetal Kidney	kidney
47	chr3:113232800-113233200	Flanking Active TSS	NH-A	brain
48	chr3:113232800-113233200	Flanking Active TSS	NHEK	skin
49	chr3:113232800-113233400	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr3:113232800-113233400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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