Variant report

Variant	rs571303431
Chromosome Location	chr7:129141889-129141890
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	BACH1	chr7:129141713-129141930	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAF1	chr7:129141847-129142657	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr7:129141765-129143130	A549	lung:	n/a	n/a
4	MTA3	chr7:129141668-129142065	GM12878	blood:	n/a	n/a
5	MXI1	chr7:129141569-129143724	SK-N-SH	brain:	n/a	chr7:129142293-129142308
6	E2F4	chr7:129141822-129142404	MCF10A-Er-Src	breast:	n/a	n/a
7	HA-E2F1	chr7:129141408-129143106	MCF-7	breast:	n/a	chr7:129142698-129142712
8	POLR2A	chr7:129141797-129142064	HCT-116	colon:	n/a	n/a
9	SIN3A	chr7:129141858-129143334	H1-hESC	embryonic stem cell:	n/a	chr7:129142283-129142294 chr7:129142195-129142204
10	MAX	chr7:129141668-129142939	MCF-7	breast:	n/a	n/a
11	REST	chr7:129141886-129142947	H1-neurons	neurons:	n/a	chr7:129142900-129142913 chr7:129142703-129142723
12	POLR2A	chr7:129141798-129141901	MCF-7	breast:	n/a	n/a
13	RCOR1	chr7:129141884-129141938	K562	blood:	n/a	n/a
14	POLR2A	chr7:129141865-129141895	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:128862636..128865560-chr7:129140029..129143022,2	K562	blood:
2	chr7:129138671..129141978-chr7:129250078..129253028,4	K562	blood:
3	chr7:129139139..129142160-chr7:129272114..129275915,3	MCF-7	breast:
4	chr7:129141127..129144491-chr7:129250183..129252967,6	MCF-7	breast:
5	chr7:129139279..129144298-chr7:129248057..129253593,12	MCF-7	breast:

Variant related genes	Relation type
SMKR1	TF binding region
ENSG00000273329	Chromatin interaction
ENSG00000158467	Chromatin interaction
ENSG00000106459	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3476763	chr7:129141037-129143315	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3476762	chr7:129141086-129143283	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3476765	chr7:129141108-129143242	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3476766	chr7:129141178-129143206	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129141000-129142200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:129141200-129143000	Active TSS	Brain Anterior Caudate	brain
3	chr7:129141400-129142000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:129141400-129142800	Flanking Active TSS	Dnd41	blood
5	chr7:129141400-129143000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:129141400-129143200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr7:129141400-129143200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr7:129141400-129143200	Active TSS	Hela-S3	cervix
9	chr7:129141400-129143400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:129141600-129142000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:129141600-129142000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:129141600-129142000	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr7:129141600-129142000	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr7:129141600-129142000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr7:129141600-129142000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr7:129141600-129142000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:129141600-129142000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr7:129141600-129142000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr7:129141600-129142000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr7:129141600-129142000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:129141600-129142000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:129141600-129142000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr7:129141600-129142000	Flanking Active TSS	Fetal Brain Female	brain
24	chr7:129141600-129142000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr7:129141600-129142000	Flanking Active TSS	GM12878-XiMat	blood
26	chr7:129141600-129142000	Flanking Bivalent TSS/Enh	HepG2	liver
27	chr7:129141600-129142200	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr7:129141600-129142200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:129141600-129142400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:129141600-129142400	Active TSS	Primary hematopoietic stem cells	blood
31	chr7:129141600-129142400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr7:129141600-129142400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:129141600-129142400	Active TSS	Adipose Nuclei	Adipose
34	chr7:129141600-129142400	Active TSS	Thymus	Thymus
35	chr7:129141600-129142400	Active TSS	NHEK	skin
36	chr7:129141600-129142600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:129141600-129142600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:129141600-129142600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr7:129141600-129142800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr7:129141600-129142800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:129141600-129142800	Active TSS	Brain Germinal Matrix	brain
42	chr7:129141600-129142800	Active TSS	Brain Hippocampus Middle	brain
43	chr7:129141600-129142800	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr7:129141600-129142800	Bivalent/Poised TSS	Fetal Lung	lung
45	chr7:129141600-129143000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr7:129141600-129143000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:129141600-129143200	Active TSS	H9 Cell Line	embryonic stem cell
48	chr7:129141600-129143200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:129141600-129143200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr7:129141600-129143200	Active TSS	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links