Variant report

Variant	rs530291513
Chromosome Location	chr7:150945296-150945297
allele	C/T
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	EP300	chr7:150945205-150946525	SK-N-SH	brain:	n/a	chr7:150946151-150946160
2	MAX	chr7:150945235-150946610	SK-N-SH	brain:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
3	E2F6	chr7:150945290-150945475	K562	blood:	n/a	n/a
4	EGR1	chr7:150945205-150945674	K562	blood:	n/a	chr7:150945209-150945222 chr7:150945321-150945334 chr7:150945322-150945331
5	POLR2A	chr7:150942456-150946649	IMR90	lung:	n/a	n/a
6	MAX	chr7:150944624-150946666	K562	blood:	n/a	chr7:150946089-150946099 chr7:150944835-150944842 chr7:150946092-150946102 chr7:150944833-150944844 chr7:150944834-150944843
7	MAX	chr7:150945137-150946765	A549	lung:	n/a	chr7:150946089-150946099 chr7:150946092-150946102 chr7:150946726-150946735
8	ZBTB7A	chr7:150945186-150946420	ECC-1	luminal epithelium:	n/a	chr7:150945786-150945794
9	EGR1	chr7:150945138-150945389	K562	blood:	n/a	chr7:150945209-150945222 chr7:150945321-150945334 chr7:150945322-150945331
10	ZBTB7A	chr7:150945073-150946282	K562	blood:	n/a	chr7:150945786-150945794
11	ZBTB7A	chr7:150944351-150946539	K562	blood:	n/a	chr7:150945786-150945794
12	MAX	chr7:150945209-150946678	SK-N-SH	brain:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
13	MXI1	chr7:150943671-150947189	IMR90	lung:	n/a	chr7:150944194-150944203 chr7:150945408-150945423
14	POLR2A	chr7:150945284-150945826	PFSK-1	brain:	n/a	n/a
15	ZNF263	chr7:150942876-150947378	HEK293-T-REx	kidney:	n/a	chr7:150943567-150943576 chr7:150943679-150943688 chr7:150943760-150943769 chr7:150946929-150946938 chr7:150947019-150947028
16	MAX	chr7:150944521-150946898	A549	lung:	n/a	chr7:150946089-150946099 chr7:150944835-150944842 chr7:150946092-150946102 chr7:150944833-150944844 chr7:150946726-150946735 chr7:150944834-150944843
17	ZBTB7A	chr7:150944736-150947117	ECC-1	luminal epithelium:	n/a	chr7:150945786-150945794 chr7:150946998-150947005 chr7:150946879-150946886
18	SIN3AK20	chr7:150945266-150946258	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150941406..150944514-chr7:150945051..150947075,3	MCF-7	breast:
2	chr7:150944159..150946342-chr7:150972887..150975150,2	MCF-7	breast:
3	chr7:150928143..150930111-chr7:150944656..150946614,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243018	TF binding region
SMARCD3	TF binding region
ENSG00000082014	Chromatin interaction
ENSG00000033100	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv889488	chr7:150926775-150955765	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
6	esv3374710	chr7:150944544-150947592	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3364561	chr7:150945169-150947267	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150940200-150945400	Enhancers	K562	blood
2	chr7:150941600-150945600	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr7:150941800-150945600	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr7:150942000-150945600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:150942800-150945400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
6	chr7:150943000-150945400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
7	chr7:150943200-150945400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
8	chr7:150943200-150945400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:150943400-150945600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:150944000-150945600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:150944000-150945800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr7:150944200-150946400	Active TSS	Right Ventricle	heart
13	chr7:150944400-150945400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr7:150944400-150945400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr7:150944400-150945400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:150944400-150945400	Enhancers	Liver	Liver
17	chr7:150944400-150946200	Active TSS	HSMM	muscle
18	chr7:150944600-150945400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr7:150944600-150945800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
20	chr7:150944600-150946400	Active TSS	Brain Angular Gyrus	brain
21	chr7:150944600-150946400	Active TSS	Left Ventricle	heart
22	chr7:150944600-150946800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr7:150944600-150946800	Active TSS	Fetal Kidney	kidney
24	chr7:150944600-150947000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:150944600-150947000	Active TSS	Aorta	Aorta
26	chr7:150944600-150947000	Active TSS	Psoas Muscle	Psoas
27	chr7:150944800-150945400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr7:150944800-150945400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:150944800-150945400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:150944800-150945400	Bivalent Enhancer	Fetal Thymus	thymus
31	chr7:150944800-150945400	Bivalent Enhancer	Stomach Mucosa	stomach
32	chr7:150944800-150945400	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr7:150944800-150945600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:150944800-150945600	Flanking Active TSS	Fetal Brain Male	brain
35	chr7:150944800-150945800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
36	chr7:150944800-150945800	Active TSS	Fetal Heart	heart
37	chr7:150944800-150946400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr7:150944800-150946400	Active TSS	Fetal Lung	lung
39	chr7:150944800-150947000	Active TSS	Right Atrium	heart
40	chr7:150945000-150945400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:150945000-150945600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:150945000-150945600	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr7:150945000-150945600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr7:150945000-150945600	Flanking Active TSS	Placenta	Placenta
45	chr7:150945000-150945800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:150945000-150945800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:150945000-150945800	Flanking Bivalent TSS/Enh	Dnd41	blood
48	chr7:150945000-150945800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
49	chr7:150945000-150946000	Active TSS	NHLF	lung
50	chr7:150945000-150946200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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