Variant report

Variant	rs138238648
Chromosome Location	chr2:113915627-113915628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113912322..113918193-chr2:113953978..113958305,10	MCF-7	breast:
2	chr2:113913826..113916797-chr2:113930139..113933348,3	K562	blood:
3	chr2:113816094..113817595-chr2:113914612..113916340,2	MCF-7	breast:
4	chr2:113882796..113885709-chr2:113913605..113916421,2	MCF-7	breast:
5	chr2:113914770..113916591-chr2:113941477..113943871,2	MCF-7	breast:
6	chr2:113914021..113918016-chr2:113931911..113937619,8	MCF-7	breast:
7	chr2:113913340..113916449-chr2:113931202..113934969,5	MCF-7	breast:
8	chr2:113913769..113918338-chr2:113954843..113958220,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136695	Chromatin interaction
ENSG00000136689	Chromatin interaction
ENSG00000125637	Chromatin interaction
ENSG00000234174	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3374293	chr2:113913906-113916454	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3380010	chr2:113913981-113916129	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113914000-113916400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:113914400-113915800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:113914400-113915800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr2:113914400-113915800	Active TSS	Colonic Mucosa	Colon
5	chr2:113914400-113915800	Active TSS	Fetal Brain Female	brain
6	chr2:113914400-113916000	Active TSS	Rectal Smooth Muscle	rectum
7	chr2:113914600-113915800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr2:113914600-113915800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr2:113914600-113915800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:113914600-113915800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:113914600-113915800	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr2:113914600-113915800	Active TSS	Liver	Liver
13	chr2:113914600-113915800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
14	chr2:113914600-113915800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
15	chr2:113914600-113915800	Active TSS	Esophagus	oesophagus
16	chr2:113914600-113915800	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr2:113914600-113916000	Enhancers	Spleen	Spleen
18	chr2:113914600-113916600	Bivalent Enhancer	HUVEC	blood vessel
19	chr2:113914800-113915800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr2:113914800-113915800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:113914800-113915800	Active TSS	Pancreas	Pancrea
22	chr2:113915000-113915800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:113915000-113915800	Active TSS	Gastric	stomach
24	chr2:113915000-113915800	Active TSS	Lung	lung
25	chr2:113915000-113915800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
26	chr2:113915200-113915800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr2:113915200-113915800	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr2:113915200-113915800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr2:113915200-113915800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:113915200-113915800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:113915200-113915800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:113915200-113915800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:113915200-113915800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
34	chr2:113915200-113915800	Flanking Active TSS	GM12878-XiMat	blood
35	chr2:113915200-113916000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr2:113915200-113916000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:113915200-113916000	Flanking Active TSS	Fetal Thymus	thymus
38	chr2:113915200-113916000	Flanking Active TSS	Dnd41	blood
39	chr2:113915200-113916000	Flanking Active TSS	NHLF	lung
40	chr2:113915200-113916800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:113915400-113915800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
42	chr2:113915400-113915800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
43	chr2:113915400-113915800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:113915400-113915800	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr2:113915400-113915800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr2:113915400-113915800	Enhancers	Fetal Brain Male	brain
47	chr2:113915400-113916000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:113915400-113916000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:113915400-113916000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:113915400-113916000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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