Variant report

Variant	rs556961636
Chromosome Location	chr2:20212289-20212290
allele	C/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
ENSG00000132031	Chromatin interaction
ENSG00000223734	Chromatin interaction
ENSG00000068697	Chromatin interaction
ENSG00000118965	Chromatin interaction
ENSG00000227210	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:116 , 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	chr2:20211400-20213200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr2:20211600-20212400	Bivalent Enhancer	Brain Angular Gyrus	brain
5	chr2:20211600-20212800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:20211600-20212800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr2:20211600-20213000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:20211600-20213000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:20211800-20212400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:20211800-20212400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:20211800-20212600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr2:20211800-20212600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr2:20211800-20212600	Bivalent Enhancer	Primary T cells from cord blood	blood
14	chr2:20211800-20212600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr2:20211800-20212600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:20211800-20212600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:20211800-20212600	Active TSS	Aorta	Aorta
18	chr2:20211800-20212600	Enhancers	Fetal Lung	lung
19	chr2:20211800-20212600	Active TSS	Right Ventricle	heart
20	chr2:20211800-20212800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:20211800-20212800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:20211800-20212800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:20211800-20213000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr2:20211800-20213000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:20211800-20213000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
26	chr2:20211800-20213000	Active TSS	HSMM	muscle
27	chr2:20211800-20213200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:20211800-20213200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:20211800-20213200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
30	chr2:20211800-20213200	Enhancers	Fetal Heart	heart
31	chr2:20211800-20213200	Enhancers	Spleen	Spleen
32	chr2:20212000-20212400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
33	chr2:20212000-20212400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
34	chr2:20212000-20212400	Enhancers	Liver	Liver
35	chr2:20212000-20212400	Bivalent/Poised TSS	Esophagus	oesophagus
36	chr2:20212000-20212400	Flanking Active TSS	Lung	lung
37	chr2:20212000-20212400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr2:20212000-20212600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:20212000-20212600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:20212000-20212600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:20212000-20212600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:20212000-20212600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
43	chr2:20212000-20212600	Active TSS	Muscle Satellite Cultured Cells	--
44	chr2:20212000-20212600	Bivalent Enhancer	Fetal Brain Male	brain
45	chr2:20212000-20212600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
46	chr2:20212000-20212600	Active TSS	Left Ventricle	heart
47	chr2:20212000-20212600	Active TSS	Psoas Muscle	Psoas
48	chr2:20212000-20212600	Active TSS	Right Atrium	heart
49	chr2:20212000-20212600	Bivalent Enhancer	GM12878-XiMat	blood
50	chr2:20212000-20212600	Active TSS	HepG2	liver

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