Variant report

Variant	rs558119944
Chromosome Location	chr7:70294947-70294948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70294117..70295302-chr7:71197788..71199575,6	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1022747	chr7:70169254-70301285	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1028853	chr7:70211620-70523331	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv533212	chr7:70220687-70511129	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv888341	chr7:70249358-70316365	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv429772	chr7:70250125-70357061	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv607437	chr7:70251651-70568354	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1031764	chr7:70271645-70420426	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1034508	chr7:70277984-70420426	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1019598	chr7:70285963-70358327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv429773	chr7:70285994-70357061	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv3350369	chr7:70288094-70503884	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv429774	chr7:70294296-70357061	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70294000-70295200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:70294000-70296400	Enhancers	Liver	Liver
3	chr7:70294200-70295000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr7:70294200-70295000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr7:70294200-70295000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:70294400-70295000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:70294400-70295000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr7:70294400-70295000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:70294400-70295000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:70294400-70295000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:70294400-70295000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:70294400-70295000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr7:70294400-70295000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:70294400-70295000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:70294400-70295000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:70294400-70295000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:70294400-70295000	Enhancers	Colonic Mucosa	Colon
18	chr7:70294400-70295000	Active TSS	Colon Smooth Muscle	Colon
19	chr7:70294400-70295000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr7:70294400-70295000	Flanking Active TSS	Fetal Muscle Trunk	muscle
21	chr7:70294400-70295000	Enhancers	Left Ventricle	heart
22	chr7:70294400-70295000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
23	chr7:70294400-70295000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
24	chr7:70294400-70295000	Flanking Bivalent TSS/Enh	Dnd41	blood
25	chr7:70294400-70295000	Flanking Active TSS	HSMM	muscle
26	chr7:70294400-70295200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:70294400-70295400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr7:70294400-70295400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:70294400-70295400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:70294600-70295000	Enhancers	Primary B cells from peripheral blood	blood
31	chr7:70294600-70295000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr7:70294600-70295000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr7:70294600-70295000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:70294600-70295000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:70294600-70295000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr7:70294600-70295000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr7:70294600-70295000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
38	chr7:70294600-70295400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:70294600-70295400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:70294600-70295400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:70294800-70295000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr7:70294800-70295000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:70294800-70295000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr7:70294800-70295000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
45	chr7:70294800-70295000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr7:70294800-70295000	Bivalent Enhancer	Primary B cells from cord blood	blood
47	chr7:70294800-70295000	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr7:70294800-70295000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr7:70294800-70295000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr7:70294800-70295000	Enhancers	Primary T helper cells fromperipheralblood	blood

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