Variant report

Variant	rs545443439
Chromosome Location	chr2:74006470-74006471
allele	A/C
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	POLR2A	chr2:74006222-74007581	HUVEC	blood vessel:	n/a	n/a
2	MYC	chr2:74006415-74007505	K562	blood:	n/a	chr2:74007426-74007435
3	CTCF	chr2:74006211-74007829	A549	lung:	n/a	n/a
4	MXI1	chr2:74006145-74008151	SK-N-SH	brain:	n/a	n/a
5	RFX5	chr2:74006404-74008138	SK-N-SH	brain:	n/a	chr2:74006899-74006914 chr2:74006898-74006915
6	POLR2A	chr2:74006414-74006482	ProgFib	skin:	n/a	n/a
7	CTCF	chr2:74006463-74007767	SK-N-SH	brain:	n/a	n/a
8	MYC	chr2:74006427-74007502	MCF10A-Er-Src	breast:	n/a	chr2:74007426-74007435
9	SIN3AK20	chr2:74006410-74007683	MCF-7	breast:	n/a	n/a
10	MXI1	chr2:74006241-74007694	IMR90	lung:	n/a	n/a
11	HCFC1	chr2:74006261-74007831	Hela-S3	cervix:	n/a	n/a
12	RELA	chr2:74006444-74007498	GM10847	blood:	n/a	n/a

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	chr2:73964502..73966089-chr2:74005861..74007990,2	MCF-7	breast:
4	chr2:74003041..74008140-chr2:74055591..74058388,4	MCF-7	breast:
5	chr2:74005698..74008068-chr2:74153454..74156032,2	K562	blood:

Variant related genes	Relation type
C2orf78	TF binding region
ENSG00000124356	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000144034	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	chr2:73995600-74006600	Weak transcription	Spleen	Spleen
2	chr2:73996000-74006600	Weak transcription	Gastric	stomach
3	chr2:74004400-74006600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:74004400-74006600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:74004800-74007400	Active TSS	GM12878-XiMat	blood
6	chr2:74005200-74007600	Active TSS	NHLF	lung
7	chr2:74005400-74007000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr2:74005400-74007000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:74005400-74007200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr2:74005400-74007200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:74005400-74007400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:74005400-74007600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr2:74005400-74007600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr2:74005400-74007600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr2:74005600-74006600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:74005600-74006600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr2:74005600-74006600	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr2:74005600-74006600	Flanking Active TSS	Dnd41	blood
19	chr2:74005600-74007000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr2:74005600-74007200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr2:74005600-74007400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr2:74005600-74007400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:74005600-74007400	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr2:74005600-74007400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:74005600-74007400	Active TSS	Lung	lung
26	chr2:74005600-74007600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr2:74005600-74007600	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr2:74005600-74007600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:74005600-74007600	Active TSS	Psoas Muscle	Psoas
30	chr2:74005600-74007600	Active TSS	HSMMtube	muscle
31	chr2:74005800-74006600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr2:74005800-74006800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:74005800-74006800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr2:74005800-74007400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:74005800-74007400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:74005800-74007400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:74005800-74007400	Active TSS	HMEC	breast
38	chr2:74005800-74007400	Active TSS	HSMM	muscle
39	chr2:74005800-74007400	Active TSS	NHEK	skin
40	chr2:74005800-74007600	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr2:74005800-74007600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:74005800-74007600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:74005800-74007600	Active TSS	Fetal Kidney	kidney
44	chr2:74005800-74007600	Active TSS	Ovary	ovary
45	chr2:74005800-74007600	Active TSS	Rectal Smooth Muscle	rectum
46	chr2:74005800-74007600	Active TSS	Thymus	Thymus
47	chr2:74005800-74007600	Active TSS	K562	blood
48	chr2:74005800-74007800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:74005800-74007800	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr2:74005800-74007800	Active TSS	Breast Myoepithelial Primary Cells	Breast

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