Variant report

Variant	rs368506283
Chromosome Location	chr3:53527640-53527641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr3:53527632-53528771	H1-hESC	embryonic stem cell:	n/a	chr3:53528233-53528242 chr3:53528338-53528348 chr3:53528198-53528207 chr3:53528250-53528259 chr3:53527887-53527896 chr3:53528093-53528103

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53525897..53528498-chr3:53700129..53702578,2	MCF-7	breast:
2	chr3:53526182..53528875-chr3:53879796..53881358,2	MCF-7	breast:

Variant related genes	Relation type
CACNA1D	TF binding region
ENSG00000016391	Chromatin interaction
ENSG00000056736	Chromatin interaction
ENSG00000157388	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	esv3442278	chr3:53527437-53530285	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53513800-53527800	Weak transcription	Pancreas	Pancrea
2	chr3:53526800-53527800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:53527000-53527800	Enhancers	Colon Smooth Muscle	Colon
4	chr3:53527000-53527800	Flanking Active TSS	Fetal Lung	lung
5	chr3:53527000-53527800	Enhancers	A549	lung
6	chr3:53527000-53528000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:53527000-53530600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr3:53527200-53527800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
9	chr3:53527200-53529200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr3:53527200-53529200	Active TSS	Duodenum Mucosa	Duodenum
11	chr3:53527200-53529200	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr3:53527400-53527800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
13	chr3:53527400-53527800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr3:53527400-53527800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr3:53527400-53527800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
16	chr3:53527400-53527800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
17	chr3:53527400-53527800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:53527400-53527800	Flanking Active TSS	Brain Angular Gyrus	brain
19	chr3:53527400-53527800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:53527400-53527800	Bivalent Enhancer	Fetal Stomach	stomach
21	chr3:53527400-53527800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr3:53527400-53528000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:53527400-53528400	Enhancers	Stomach Mucosa	stomach
24	chr3:53527400-53529200	Active TSS	Fetal Intestine Large	intestine
25	chr3:53527400-53530200	Active TSS	Brain Hippocampus Middle	brain
26	chr3:53527400-53530400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr3:53527400-53530400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr3:53527400-53531000	Active TSS	Brain Cingulate Gyrus	brain
29	chr3:53527600-53527800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr3:53527600-53527800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:53527600-53527800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:53527600-53527800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr3:53527600-53527800	Active TSS	Colonic Mucosa	Colon
34	chr3:53527600-53527800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr3:53527600-53527800	Active TSS	Fetal Intestine Small	intestine
36	chr3:53527600-53527800	Flanking Active TSS	Fetal Kidney	kidney
37	chr3:53527600-53527800	Bivalent/Poised TSS	HepG2	liver
38	chr3:53527600-53528000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:53527600-53528000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
40	chr3:53527600-53528000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:53527600-53528000	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr3:53527600-53528000	Active TSS	Ovary	ovary
43	chr3:53527600-53528000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
44	chr3:53527600-53528000	Bivalent/Poised TSS	NH-A	brain
45	chr3:53527600-53529000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:53527600-53529200	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr3:53527600-53529200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
48	chr3:53527600-53529200	Active TSS	Rectal Smooth Muscle	rectum
49	chr3:53527600-53529400	Active TSS	Fetal Brain Female	brain
50	chr3:53527600-53529800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell

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