Variant report

Variant	rs552263243
Chromosome Location	chr2:74005594-74005595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73963771..73965386-chr2:74005336..74008448,3	MCF-7	breast:
2	chr2:74004444..74007409-chr2:74053786..74057952,3	K562	blood:
3	chr2:73991479..73993446-chr2:74004055..74006417,2	MCF-7	breast:
4	chr2:74004444..74006020-chr2:74053313..74055286,2	K562	blood:
5	chr2:74003041..74008140-chr2:74055591..74058388,4	MCF-7	breast:
6	chr2:74004281..74006417-chr2:74210868..74213227,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144034	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000124356	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv1000675	chr2:73919185-74038946	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv2780	chr2:73994168-74057248	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv1828210	chr2:74005068-74038451	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73983600-74006400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:73983800-74006000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:73988200-74005600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:73992600-74006000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:73992800-74005600	Weak transcription	Stomach Mucosa	stomach
6	chr2:73993400-74006200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:73994000-74005600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:73995600-74006000	Weak transcription	Right Ventricle	heart
9	chr2:73995600-74006200	Weak transcription	Aorta	Aorta
10	chr2:73995600-74006600	Weak transcription	Spleen	Spleen
11	chr2:73996000-74006600	Weak transcription	Gastric	stomach
12	chr2:73997000-74005600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:73998600-74005600	Weak transcription	Lung	lung
14	chr2:74002200-74005800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:74002400-74006200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:74003400-74005600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:74004000-74005600	Transcr. at gene 5' and 3'	NHEK	skin
18	chr2:74004200-74005600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:74004400-74005600	Weak transcription	Pancreas	Pancrea
20	chr2:74004400-74005800	Flanking Active TSS	HMEC	breast
21	chr2:74004400-74006000	Weak transcription	Esophagus	oesophagus
22	chr2:74004400-74006200	Weak transcription	Fetal Intestine Small	intestine
23	chr2:74004400-74006600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:74004400-74006600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:74004600-74005600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:74004800-74005600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:74004800-74005600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:74004800-74005600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr2:74004800-74005600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:74004800-74005600	Weak transcription	Placenta	Placenta
31	chr2:74004800-74005800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:74004800-74006000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr2:74004800-74006200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:74004800-74007400	Active TSS	GM12878-XiMat	blood
35	chr2:74005000-74005600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:74005000-74005600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:74005000-74005600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr2:74005000-74005600	Weak transcription	Fetal Intestine Large	intestine
39	chr2:74005000-74005600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr2:74005000-74005800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:74005000-74005800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr2:74005000-74005800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:74005000-74006400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:74005000-74006400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:74005200-74005600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:74005200-74005600	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr2:74005200-74005600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr2:74005200-74005600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:74005200-74005600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:74005200-74005600	Weak transcription	Fetal Thymus	thymus

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