Variant report

Variant	rs569549944
Chromosome Location	chr2:113915218-113915219
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
ENSG00000125637	Chromatin interaction
ENSG00000234174	Chromatin interaction
ENSG00000136695	Chromatin interaction
ENSG00000136689	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113914000-113916400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:113914200-113915400	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr2:113914400-113915400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:113914400-113915400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:113914400-113915400	Active TSS	Fetal Stomach	stomach
6	chr2:113914400-113915400	Active TSS	Thymus	Thymus
7	chr2:113914400-113915600	Active TSS	Primary T cells from cord blood	blood
8	chr2:113914400-113915600	Active TSS	Brain Angular Gyrus	brain
9	chr2:113914400-113915600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
10	chr2:113914400-113915800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:113914400-113915800	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr2:113914400-113915800	Active TSS	Colonic Mucosa	Colon
13	chr2:113914400-113915800	Active TSS	Fetal Brain Female	brain
14	chr2:113914400-113916000	Active TSS	Rectal Smooth Muscle	rectum
15	chr2:113914600-113915400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:113914600-113915400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr2:113914600-113915400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:113914600-113915400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr2:113914600-113915400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr2:113914600-113915400	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr2:113914600-113915400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:113914600-113915400	Active TSS	Muscle Satellite Cultured Cells	--
23	chr2:113914600-113915400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:113914600-113915400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
25	chr2:113914600-113915400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:113914600-113915400	Active TSS	Fetal Intestine Small	intestine
27	chr2:113914600-113915400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
28	chr2:113914600-113915400	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr2:113914600-113915400	Bivalent/Poised TSS	Right Ventricle	heart
30	chr2:113914600-113915400	Enhancers	Stomach Mucosa	stomach
31	chr2:113914600-113915400	Bivalent/Poised TSS	HSMM	muscle
32	chr2:113914600-113915600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:113914600-113915600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:113914600-113915600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:113914600-113915600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:113914600-113915600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:113914600-113915600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:113914600-113915600	Active TSS	Brain Anterior Caudate	brain
39	chr2:113914600-113915600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
40	chr2:113914600-113915600	Active TSS	Fetal Intestine Large	intestine
41	chr2:113914600-113915600	Active TSS	Fetal Kidney	kidney
42	chr2:113914600-113915600	Bivalent/Poised TSS	Psoas Muscle	Psoas
43	chr2:113914600-113915600	Active TSS	Right Atrium	heart
44	chr2:113914600-113915600	Active TSS	Small Intestine	intestine
45	chr2:113914600-113915600	Active TSS	NH-A	brain
46	chr2:113914600-113915600	Active TSS	Osteobl	bone
47	chr2:113914600-113915800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr2:113914600-113915800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr2:113914600-113915800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr2:113914600-113915800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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