Variant report

Variant	rs7934353
Chromosome Location	chr11:72930096-72930097
allele	C/G
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	SIN3AK20	chr11:72928473-72930107	MCF-7	breast:	n/a	n/a
2	ZBTB7A	chr11:72928799-72930172	ECC-1	luminal epithelium:	n/a	n/a
3	ZBTB7A	chr11:72928782-72930163	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr11:72926165-72938018	HL-60	blood:	n/a	n/a
5	CTCF	chr11:72928925-72930692	A549	lung:	n/a	n/a
6	TFAP2C	chr11:72929026-72930255	Hela-S3	cervix:	n/a	chr11:72929592-72929607
7	POLR2A	chr11:72926306-72930248	NB4	blood:	n/a	n/a
8	POLR2A	chr11:72926198-72937963	HL-60	blood:	n/a	n/a
9	MAX	chr11:72929044-72930199	NB4	blood:	n/a	chr11:72929376-72929386 chr11:72929379-72929386 chr11:72929978-72929988 chr11:72929378-72929388 chr11:72929378-72929387 chr11:72929314-72929324 chr11:72929377-72929388

No.	Distal block	Cell Line	Cell type
1	chr11:72853154..72855007-chr11:72929139..72931513,2	MCF-7	breast:
2	chr11:72493156..72495189-chr11:72928478..72930668,3	MCF-7	breast:
3	chr11:72503784..72506379-chr11:72929957..72932387,2	MCF-7	breast:
4	chr11:72525940..72528822-chr11:72928585..72931110,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215841	TF binding region
ENSG00000186635	Chromatin interaction
ENSG00000137478	Chromatin interaction
ENSG00000265064	Chromatin interaction
ENSG00000214530	Chromatin interaction
ENSG00000168010	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs480305	0.98[EUR][1000 genomes]
rs498145	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs498323	0.95[EUR][1000 genomes]
rs507126	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs510921	0.93[EUR][1000 genomes]
rs557451	0.89[EUR][1000 genomes]
rs7948393	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053737	chr11:72838564-72956847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv1038032	chr11:72925347-72966442	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72928200-72930600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:72928400-72930400	Flanking Active TSS	HMEC	breast
3	chr11:72928600-72930200	Active TSS	Left Ventricle	heart
4	chr11:72928600-72930400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:72928600-72930400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr11:72928600-72930600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr11:72928600-72930600	Active TSS	Psoas Muscle	Psoas
8	chr11:72928800-72930200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr11:72928800-72930200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr11:72928800-72930200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr11:72928800-72930200	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr11:72928800-72930400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
13	chr11:72928800-72930400	Flanking Active TSS	Colonic Mucosa	Colon
14	chr11:72929000-72930200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr11:72929000-72930200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:72929000-72930200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr11:72929000-72930200	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr11:72929000-72930200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:72929000-72930200	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr11:72929000-72930600	Active TSS	A549	lung
21	chr11:72929200-72930200	Active TSS	Brain Anterior Caudate	brain
22	chr11:72929200-72930200	Bivalent Enhancer	Fetal Brain Male	brain
23	chr11:72929200-72930200	Bivalent/Poised TSS	HepG2	liver
24	chr11:72929400-72930800	Active TSS	Right Ventricle	heart
25	chr11:72929600-72930200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr11:72929600-72930200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:72929600-72930200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:72929600-72930200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
29	chr11:72929600-72930200	Flanking Active TSS	NHEK	skin
30	chr11:72929600-72930600	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr11:72929600-72930600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr11:72929600-72930800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
33	chr11:72929600-72931600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr11:72929800-72930200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:72929800-72930200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:72929800-72930200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr11:72929800-72930200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:72929800-72930200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:72929800-72930200	Flanking Active TSS	Liver	Liver
40	chr11:72929800-72930200	Flanking Active TSS	Placenta	Placenta
41	chr11:72929800-72930400	Bivalent Enhancer	HSMMtube	muscle
42	chr11:72929800-72930600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr11:72929800-72930600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
44	chr11:72929800-72932400	Enhancers	Spleen	Spleen
45	chr11:72930000-72930200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
46	chr11:72930000-72930200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:72930000-72930200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:72930000-72930200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:72930000-72930200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:72930000-72930200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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