Variant report

Variant	rs577389744
Chromosome Location	chr2:20211983-20211984
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20188544..20190994-chr2:20211302..20213941,2	MCF-7	breast:
2	chr2:20209928..20212604-chr2:20250418..20252144,2	MCF-7	breast:
3	chr2:20196234..20199275-chr2:20211073..20214096,3	MCF-7	breast:
4	chr2:20208645..20229804-chr2:20247969..20254330,37	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227210	Chromatin interaction
ENSG00000223734	Chromatin interaction
ENSG00000118965	Chromatin interaction
ENSG00000132031	Chromatin interaction
ENSG00000068697	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	nsv1006404	chr2:20167688-20216509	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1011244	chr2:20174676-20216204	Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3327327	chr2:20211296-20213844	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv3393710	chr2:20211621-20213469	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20201800-20212400	Weak transcription	Gastric	stomach
2	chr2:20210400-20212800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:20211200-20212000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:20211400-20212000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:20211400-20212000	Flanking Active TSS	A549	lung
6	chr2:20211400-20213200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr2:20211600-20212000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
8	chr2:20211600-20212000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
9	chr2:20211600-20212000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
10	chr2:20211600-20212000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
11	chr2:20211600-20212000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:20211600-20212000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr2:20211600-20212000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
14	chr2:20211600-20212000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
15	chr2:20211600-20212000	Bivalent Enhancer	Adipose Nuclei	Adipose
16	chr2:20211600-20212000	Bivalent Enhancer	Liver	Liver
17	chr2:20211600-20212000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:20211600-20212000	Enhancers	Brain Substantia Nigra	brain
19	chr2:20211600-20212000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
20	chr2:20211600-20212000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr2:20211600-20212000	Enhancers	Ovary	ovary
22	chr2:20211600-20212000	Bivalent/Poised TSS	Hela-S3	cervix
23	chr2:20211600-20212000	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr2:20211600-20212200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:20211600-20212200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
26	chr2:20211600-20212200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:20211600-20212200	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
28	chr2:20211600-20212400	Bivalent Enhancer	Brain Angular Gyrus	brain
29	chr2:20211600-20212800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:20211600-20212800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr2:20211600-20213000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr2:20211600-20213000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr2:20211800-20212000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:20211800-20212000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:20211800-20212000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:20211800-20212000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:20211800-20212000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:20211800-20212000	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:20211800-20212000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
40	chr2:20211800-20212000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
41	chr2:20211800-20212000	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:20211800-20212000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
43	chr2:20211800-20212000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:20211800-20212000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
45	chr2:20211800-20212000	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr2:20211800-20212000	Bivalent Enhancer	Esophagus	oesophagus
47	chr2:20211800-20212000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr2:20211800-20212000	Bivalent Enhancer	Fetal Intestine Small	intestine
49	chr2:20211800-20212000	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr2:20211800-20212000	Bivalent Enhancer	Placenta	Placenta

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