Variant report

Variant	rs374581356
Chromosome Location	chr7:27135471-27135472
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	USF1	chr7:27135274-27136055	ECC-1	luminal epithelium:	n/a	chr7:27135675-27135684 chr7:27135674-27135685 chr7:27135669-27135690 chr7:27135673-27135686 chr7:27135675-27135684 chr7:27135674-27135683 chr7:27135676-27135685
2	TAF1	chr7:27135460-27136905	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr7:27135380-27135944	U87	brain:	n/a	n/a
4	WRNIP1	chr7:27135429-27135754	GM12878	blood:	n/a	n/a
5	SPI1	chr7:27135385-27135764	GM12891	blood:	n/a	chr7:27135583-27135592
6	ELF1	chr7:27135291-27136264	MCF-7	breast:	n/a	n/a
7	POLR2A	chr7:27135411-27136813	GM15510	blood:	n/a	n/a
8	FOS	chr7:27135417-27136225	HUVEC	blood vessel:	n/a	chr7:27135641-27135650 chr7:27135642-27135651
9	EP300	chr7:27135074-27135849	GM12878	blood:	n/a	chr7:27135583-27135597
10	ELF1	chr7:27135423-27136375	MCF-7	breast:	n/a	n/a
11	EP300	chr7:27135221-27135883	GM12878	blood:	n/a	chr7:27135583-27135597
12	STAT5A	chr7:27135254-27135672	GM12878	blood:	n/a	chr7:27135274-27135289
13	YY1	chr7:27135338-27136047	A549	lung:	n/a	n/a
14	CHD2	chr7:27135235-27136257	GM12878	blood:	n/a	n/a
15	ELF1	chr7:27135325-27135950	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:27135368-27137088	GM18505	blood:	n/a	n/a
17	RAD21	chr7:27135415-27136105	A549	lung:	n/a	n/a
18	SIN3A	chr7:27135335-27136185	GM12878	blood:	n/a	chr7:27136103-27136114 chr7:27135647-27135658
19	PAX5	chr7:27135439-27135629	GM12878	blood:	n/a	chr7:27135583-27135592 chr7:27135586-27135595
20	MYC	chr7:27135140-27136074	NB4	blood:	n/a	chr7:27135675-27135684
21	TCF12	chr7:27134818-27137091	A549	lung:	n/a	n/a
22	MAX	chr7:27135323-27137154	ECC-1	luminal epithelium:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
23	BCL3	chr7:27135371-27135981	A549	lung:	n/a	chr7:27135583-27135592
24	ZNF143	chr7:27135434-27135952	Hela-S3	cervix:	n/a	n/a
25	TAF1	chr7:27135454-27135942	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:27135373-27136916	ProgFib	skin:	n/a	n/a
27	BHLHE40	chr7:27135355-27136008	GM12878	blood:	n/a	chr7:27135675-27135684 chr7:27135669-27135690 chr7:27135673-27135686 chr7:27135675-27135684 chr7:27135674-27135683 chr7:27135676-27135685
28	BCL11A	chr7:27135364-27135734	GM12878	blood:	n/a	chr7:27135583-27135592
29	SP1	chr7:27135355-27136106	A549	lung:	n/a	chr7:27135642-27135654 chr7:27135643-27135652 chr7:27135639-27135653 chr7:27135663-27135677 chr7:27135647-27135661 chr7:27135642-27135654
30	POLR2A	chr7:27135355-27136783	MCF-7	breast:	n/a	n/a
31	POLR2A	chr7:27135416-27137465	MCF10A-Er-Src	breast:	n/a	n/a
32	SPI1	chr7:27135471-27135666	GM12878	blood:	n/a	chr7:27135583-27135592
33	ELF1	chr7:27134859-27136346	GM12878	blood:	n/a	n/a
34	CREB1	chr7:27135447-27136039	GM12878	blood:	n/a	n/a
35	MAX	chr7:27135409-27135859	A549	lung:	n/a	chr7:27135675-27135684
36	POLR2A	chr7:27135019-27136995	MCF-7	breast:	n/a	n/a
37	POLR2A	chr7:27135394-27136819	GM19099	blood:	n/a	n/a
38	TEAD4	chr7:27135311-27136066	ECC-1	luminal epithelium:	n/a	n/a
39	YY1	chr7:27135366-27136069	GM12878	blood:	n/a	n/a
40	USF1	chr7:27135326-27135977	A549	lung:	n/a	chr7:27135675-27135684 chr7:27135674-27135685 chr7:27135669-27135690 chr7:27135673-27135686 chr7:27135675-27135684 chr7:27135674-27135683 chr7:27135676-27135685
41	EBF1	chr7:27135113-27135686	GM12878	blood:	n/a	n/a
42	RUNX3	chr7:27135092-27136202	GM12878	blood:	n/a	n/a
43	USF1	chr7:27135346-27135910	A549	lung:	n/a	chr7:27135675-27135684 chr7:27135674-27135685 chr7:27135669-27135690 chr7:27135673-27135686 chr7:27135675-27135684 chr7:27135674-27135683 chr7:27135676-27135685
44	POLR2A	chr7:27135452-27136936	Gliobla	brain:	n/a	n/a
45	POLR2A	chr7:27134992-27136369	Raji	blood:	n/a	n/a
46	MAZ	chr7:27135452-27136930	Hela-S3	cervix:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
47	MXI1	chr7:27135392-27136100	Hela-S3	cervix:	n/a	n/a
48	ELF1	chr7:27135392-27135859	A549	lung:	n/a	n/a
49	POLR2A	chr7:27135203-27137275	PANC-1	pancreas:	n/a	n/a
50	USF1	chr7:27135316-27135969	H1-hESC	embryonic stem cell:	n/a	chr7:27135675-27135684 chr7:27135674-27135685 chr7:27135669-27135690 chr7:27135673-27135686 chr7:27135675-27135684 chr7:27135674-27135683 chr7:27135676-27135685

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26902705..26905667-chr7:27132555..27137263,6	MCF-7	breast:
2	7:27130634-27137201..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
3	7:27130634-27137201..7:27162022-27164727	H1-hESC	embryonic stem cell:	embryo
4	7:27082525-27089724..7:27130634-27137201	Hela-S3	cervix:

Variant related genes	Relation type
HOTAIRM1	TF binding region
ENSG00000005020	Chromatin interaction
ENSG00000253508	Chromatin interaction
ENSG00000243766	Chromatin interaction
ENSG00000253552	Chromatin interaction
ENSG00000213786	Chromatin interaction
ENSG00000106031	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv1018709	chr7:26990384-27216552	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	nsv538806	chr7:26990384-27216552	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv887856	chr7:27073731-27297791	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
6	nsv824038	chr7:27119294-27284522	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
7	nsv887857	chr7:27120689-27229549	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv824039	chr7:27121825-27294951	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
9	nsv824040	chr7:27121870-27295010	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
10	nsv887858	chr7:27127231-27188659	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
11	nsv887860	chr7:27127231-27196069	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
12	nsv887859	chr7:27127231-27196113	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
13	nsv887861	chr7:27127231-27206688	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
14	nsv887862	chr7:27127231-27217359	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
15	nsv887863	chr7:27127231-27243106	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
16	nsv887864	chr7:27127231-27243962	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
17	nsv887865	chr7:27127231-27247279	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
18	nsv887866	chr7:27127231-27248373	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
19	nsv887867	chr7:27127231-27252246	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
20	nsv824041	chr7:27128039-27294951	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
21	nsv606463	chr7:27135314-27182245	Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
22	nsv887868	chr7:27135314-27202289	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
23	nsv887869	chr7:27135314-27297791	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27134000-27135600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:27134000-27137000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:27134200-27137000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:27134400-27139000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:27134400-27139000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:27134400-27139000	Active TSS	HMEC	breast
7	chr7:27134600-27136800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:27134600-27136800	Active TSS	A549	lung
9	chr7:27134600-27137400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:27134600-27137400	Active TSS	HSMMtube	muscle
11	chr7:27134600-27137400	Active TSS	NHEK	skin
12	chr7:27134600-27137600	Active TSS	Stomach Mucosa	stomach
13	chr7:27134800-27135600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:27134800-27135600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
15	chr7:27134800-27135600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr7:27134800-27135600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:27134800-27135600	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr7:27134800-27135600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr7:27134800-27135800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:27134800-27136200	Bivalent/Poised TSS	Thymus	Thymus
21	chr7:27134800-27136800	Active TSS	HSMM	muscle
22	chr7:27134800-27136800	Active TSS	NHDF-Ad	bronchial
23	chr7:27134800-27137200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:27134800-27138800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:27134800-27139200	Bivalent/Poised TSS	NH-A	brain
26	chr7:27134800-27140200	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr7:27135000-27135600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:27135000-27135600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
29	chr7:27135000-27135600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
30	chr7:27135000-27135600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr7:27135000-27135600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr7:27135000-27135600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
33	chr7:27135000-27135600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:27135000-27135600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
35	chr7:27135000-27135600	Flanking Active TSS	Colonic Mucosa	Colon
36	chr7:27135000-27135600	Bivalent/Poised TSS	Fetal Lung	lung
37	chr7:27135000-27135600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
38	chr7:27135000-27135600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr7:27135000-27135600	Bivalent/Poised TSS	Small Intestine	intestine
40	chr7:27135000-27135800	Active TSS	Placenta Amnion	Placenta Amnion
41	chr7:27135000-27136200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
42	chr7:27135000-27136200	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr7:27135000-27136400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:27135000-27136400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:27135000-27136400	Active TSS	Ovary	ovary
46	chr7:27135000-27136800	Active TSS	Liver	Liver
47	chr7:27135000-27136800	Active TSS	Rectal Smooth Muscle	rectum
48	chr7:27135000-27136800	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr7:27135000-27139400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr7:27135200-27135600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links