Variant report

Variant	rs543406813
Chromosome Location	chr2:187365289-187365290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187350930..187352982-chr2:187364915..187367637,2	MCF-7	breast:
2	chr2:187361854..187365776-chr2:187367808..187372430,5	K562	blood:

Variant related genes	Relation type
ENSG00000065548	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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187352200-187365400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:187352200-187365400	Weak transcription	Lung	lung
3	chr2:187355600-187365400	Weak transcription	Gastric	stomach
4	chr2:187355600-187365400	Weak transcription	Spleen	Spleen
5	chr2:187355600-187369000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:187355800-187370200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:187356800-187368400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:187357000-187379000	Strong transcription	Fetal Thymus	thymus
9	chr2:187357400-187383000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:187357600-187382600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:187357600-187386200	Strong transcription	Dnd41	blood
12	chr2:187358200-187379000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr2:187358400-187366800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:187358400-187367200	Strong transcription	Fetal Muscle Trunk	muscle
15	chr2:187358600-187379000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:187358600-187385800	Weak transcription	Esophagus	oesophagus
17	chr2:187358800-187367800	Weak transcription	Psoas Muscle	Psoas
18	chr2:187358800-187377200	Strong transcription	HepG2	liver
19	chr2:187359000-187376000	Strong transcription	GM12878-XiMat	blood
20	chr2:187359600-187386400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:187359800-187374800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:187359800-187374800	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr2:187359800-187375000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:187359800-187379000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:187359800-187379200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:187359800-187379400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:187359800-187379800	Strong transcription	HSMM	muscle
28	chr2:187359800-187380400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:187359800-187381400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr2:187359800-187387200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:187360000-187368000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:187360000-187368600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:187360000-187368600	Strong transcription	Adipose Nuclei	Adipose
34	chr2:187360000-187376800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:187360000-187378600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:187360000-187378800	Strong transcription	Liver	Liver
37	chr2:187360000-187379200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:187360000-187386800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:187360200-187367400	Strong transcription	Fetal Lung	lung
40	chr2:187360200-187367400	Strong transcription	Stomach Smooth Muscle	stomach
41	chr2:187360200-187368600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:187360200-187369200	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:187360200-187374400	Strong transcription	NH-A	brain
44	chr2:187360200-187374800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr2:187360200-187374800	Strong transcription	Fetal Intestine Large	intestine
46	chr2:187360200-187375400	Strong transcription	Primary B cells from cord blood	blood
47	chr2:187360200-187376800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:187360200-187377000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr2:187360200-187378600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:187360200-187379000	Strong transcription	Primary T cells fromperipheralblood	blood

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