Variant report

Variant	rs562524449
Chromosome Location	chr7:27136986-27136987
allele	A/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	SMARCC1	chr7:27135803-27137009	Hela-S3	cervix:	n/a	n/a
2	EBF1	chr7:27136815-27137072	GM12878	blood:	n/a	chr7:27136990-27137000
3	SUZ12	chr7:27136010-27137160	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:27135368-27137088	GM18505	blood:	n/a	n/a
5	MYC	chr7:27136320-27137084	NB4	blood:	n/a	chr7:27136716-27136725 chr7:27136879-27136889
6	TCF12	chr7:27134818-27137091	A549	lung:	n/a	n/a
7	MAX	chr7:27135323-27137154	ECC-1	luminal epithelium:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
8	STAT3	chr7:27136968-27137355	MCF10A-Er-Src	breast:	n/a	n/a
9	KAP1	chr7:27136676-27137076	HEK293	kidney:	n/a	n/a
10	POLR2A	chr7:27136826-27137551	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr7:27135416-27137465	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr7:27135019-27136995	MCF-7	breast:	n/a	n/a
13	SIN3AK20	chr7:27136449-27137356	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr7:27135203-27137275	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr7:27135166-27139184	PANC-1	pancreas:	n/a	n/a
16	SMARCB1	chr7:27135150-27137019	Hela-S3	cervix:	n/a	n/a
17	MAX	chr7:27135426-27137038	Hela-S3	cervix:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
18	POLR2A	chr7:27136687-27137501	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr7:27135236-27137056	GM19193	blood:	n/a	n/a
20	POLR2A	chr7:27135418-27137051	U87	brain:	n/a	n/a
21	MAX	chr7:27134969-27137180	NB4	blood:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
22	SIN3A	chr7:27136614-27137076	GM12878	blood:	n/a	n/a
23	SIN3AK20	chr7:27134769-27137021	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr7:27135394-27139167	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr7:27135359-27137007	HUVEC	blood vessel:	n/a	n/a
26	MAX	chr7:27135330-27137206	HCT-116	colon:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
27	EGR1	chr7:27135455-27137136	HCT-116	colon:	n/a	chr7:27136299-27136314 chr7:27136608-27136618 chr7:27136651-27136661 chr7:27136480-27136490 chr7:27135638-27135651 chr7:27136605-27136627 chr7:27136603-27136616 chr7:27135586-27135595 chr7:27136862-27136875 chr7:27135637-27135652
28	MXI1	chr7:27135167-27138001	IMR90	lung:	n/a	n/a
29	POLR2A	chr7:27135210-27137167	HUVEC	blood vessel:	n/a	n/a
30	SPI1	chr7:27136560-27137061	HL-60	blood:	n/a	chr7:27136938-27136951
31	ZNF263	chr7:27135473-27138390	HEK293-T-REx	kidney:	n/a	chr7:27136937-27136946
32	SPI1	chr7:27136414-27137118	HL-60	blood:	n/a	chr7:27136938-27136951 chr7:27136522-27136535
33	POLR2A	chr7:27135386-27149832	IMR90	lung:	n/a	n/a
34	POLR2A	chr7:27135186-27137007	NB4	blood:	n/a	n/a
35	MAX	chr7:27135146-27137055	HCT-116	colon:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
36	POLR2A	chr7:27136298-27137051	U87	brain:	n/a	n/a
37	ZBTB7A	chr7:27135628-27137090	ECC-1	luminal epithelium:	n/a	chr7:27136525-27136532
38	MAZ	chr7:27134832-27137306	IMR90	lung:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
39	RAD21	chr7:27135269-27138922	IMR90	lung:	n/a	n/a
40	CHD1	chr7:27134717-27152399	IMR90	lung:	n/a	chr7:27141647-27141657
41	MAX	chr7:27135108-27137044	A549	lung:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26902705..26905667-chr7:27132555..27137263,6	MCF-7	breast:
2	chr7:27136545..27139680-chr7:27140711..27142949,3	K562	blood:
3	7:27130634-27137201..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
4	7:27130634-27137201..7:27162022-27164727	H1-hESC	embryonic stem cell:	embryo
5	chr7:27136703..27139680-chr7:27141228..27142949,2	K562	blood:
6	7:27082525-27089724..7:27130634-27137201	Hela-S3	cervix:

Variant related genes	Relation type
HOXA1	TF binding region
HOTAIRM1	TF binding region
ENSG00000253508	Chromatin interaction
ENSG00000253552	Chromatin interaction
ENSG00000213786	Chromatin interaction
ENSG00000106031	Chromatin interaction
ENSG00000243766	Chromatin interaction
ENSG00000005020	Chromatin interaction
ENSG00000105996	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 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
24	nsv887870	chr7:27136308-27154737	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
25	nsv887871	chr7:27136308-27179814	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS 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	53 gene(s)	inside rSNPs	diseases
26	nsv887872	chr7:27136308-27181437	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS 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	54 gene(s)	inside rSNPs	diseases
27	nsv887873	chr7:27136308-27186495	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
28	nsv887874	chr7:27136308-27196069	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27134000-27137000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:27134200-27137000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:27134400-27139000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:27134400-27139000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:27134400-27139000	Active TSS	HMEC	breast
6	chr7:27134600-27137400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:27134600-27137400	Active TSS	HSMMtube	muscle
8	chr7:27134600-27137400	Active TSS	NHEK	skin
9	chr7:27134600-27137600	Active TSS	Stomach Mucosa	stomach
10	chr7:27134800-27137200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:27134800-27138800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:27134800-27139200	Bivalent/Poised TSS	NH-A	brain
13	chr7:27134800-27140200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr7:27135000-27139400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr7:27135200-27137000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr7:27135200-27137000	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr7:27135200-27137400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:27135200-27137600	Active TSS	Gastric	stomach
19	chr7:27135200-27138600	Active TSS	NHLF	lung
20	chr7:27135200-27139000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr7:27135200-27139200	Active TSS	Aorta	Aorta
22	chr7:27135200-27139200	Active TSS	Right Atrium	heart
23	chr7:27135400-27137000	Active TSS	HUVEC	blood vessel
24	chr7:27135400-27137200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
25	chr7:27135400-27137600	Active TSS	Lung	lung
26	chr7:27135400-27139000	Active TSS	Esophagus	oesophagus
27	chr7:27135600-27137000	Active TSS	Stomach Smooth Muscle	stomach
28	chr7:27135600-27137600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:27135800-27137000	Bivalent Enhancer	Fetal Brain Male	brain
30	chr7:27135800-27137000	Bivalent Enhancer	Fetal Heart	heart
31	chr7:27135800-27137200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:27135800-27137200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:27135800-27137600	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
34	chr7:27136000-27137000	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr7:27136000-27137000	Active TSS	Colonic Mucosa	Colon
36	chr7:27136000-27137200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr7:27136000-27137400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:27136000-27137800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
39	chr7:27136200-27137000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:27136200-27137000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
41	chr7:27136200-27137000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
42	chr7:27136200-27137000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
43	chr7:27136200-27137000	Flanking Active TSS	Pancreas	Pancrea
44	chr7:27136200-27137000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr7:27136200-27137200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:27136200-27137200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
47	chr7:27136200-27137200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr7:27136200-27137200	Flanking Bivalent TSS/Enh	Thymus	Thymus
49	chr7:27136200-27137400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
50	chr7:27136200-27137800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links