Variant report

Variant	rs550669701
Chromosome Location	chr2:191273960-191273961
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	chr2:191272262..191274939-chr2:191333629..191335814,2	MCF-7	breast:
2	chr2:191232283..191235106-chr2:191272706..191274515,2	MCF-7	breast:
3	chr2:191273486..191274213-chr6:16140035..16140936,2	Hela-S3	cervix:
4	chr16:67280436..67281099-chr2:191273288..191273988,2	Hela-S3	cervix:
5	chr2:191272728..191274553-chr2:191298568..191301564,2	MCF-7	breast:
6	chr2:191271631..191274450-chr2:191332507..191334267,2	MCF-7	breast:
7	chr2:191207151..191209417-chr2:191272894..191274824,2	MCF-7	breast:
8	chr2:191271812..191274120-chr2:191398223..191400840,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000151689	Chromatin interaction
ENSG00000189362	Chromatin interaction
ENSG00000135740	Chromatin interaction
ENSG00000233654	Chromatin interaction
ENSG00000151690	Chromatin interaction
ENSG00000198130	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3327951	chr2:191272332-191274880	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 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	chr2:191271800-191274400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:191272000-191274000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:191272000-191274200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:191272200-191274000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr2:191272200-191274000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr2:191272200-191274200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr2:191272400-191274000	Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr2:191272400-191274000	Active TSS	Aorta	Aorta
9	chr2:191272400-191274000	Active TSS	Brain Angular Gyrus	brain
10	chr2:191272400-191274000	Active TSS	Pancreas	Pancrea
11	chr2:191272400-191274000	Active TSS	Thymus	Thymus
12	chr2:191272400-191274200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr2:191272400-191274200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr2:191272400-191274200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr2:191272400-191274200	Active TSS	Muscle Satellite Cultured Cells	--
16	chr2:191272400-191274200	Active TSS	Brain Anterior Caudate	brain
17	chr2:191272400-191274200	Active TSS	Right Ventricle	heart
18	chr2:191272400-191274200	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr2:191272400-191274200	Active TSS	HSMMtube	muscle
20	chr2:191272400-191274400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr2:191272400-191274600	Active TSS	Left Ventricle	heart
22	chr2:191272400-191275000	Active TSS	Right Atrium	heart
23	chr2:191272600-191274000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:191272600-191274000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:191272600-191274000	Active TSS	Brain Cingulate Gyrus	brain
26	chr2:191272600-191274000	Active TSS	Gastric	stomach
27	chr2:191272600-191274000	Active TSS	A549	lung
28	chr2:191272600-191274200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:191272600-191274200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr2:191272600-191274200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr2:191272600-191274200	Active TSS	Esophagus	oesophagus
32	chr2:191272600-191274200	Active TSS	Fetal Brain Female	brain
33	chr2:191272600-191274200	Active TSS	Small Intestine	intestine
34	chr2:191272600-191274200	Active TSS	GM12878-XiMat	blood
35	chr2:191272600-191274600	Active TSS	Lung	lung
36	chr2:191272600-191274600	Active TSS	Ovary	ovary
37	chr2:191272600-191274600	Active TSS	Psoas Muscle	Psoas
38	chr2:191272800-191274000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:191272800-191274000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
40	chr2:191272800-191274000	Active TSS	Dnd41	blood
41	chr2:191272800-191274000	Active TSS	HMEC	breast
42	chr2:191272800-191274200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:191272800-191274200	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr2:191272800-191274400	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr2:191273400-191274000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:191273600-191274000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:191273600-191274000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:191273600-191274000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
49	chr2:191273600-191274000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
50	chr2:191273600-191274000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain

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