Variant report

Variant	rs17500494
Chromosome Location	chr7:27134966-27134967
allele	G/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	TCF12	chr7:27134818-27137091	A549	lung:	n/a	n/a
2	ELF1	chr7:27134859-27136346	GM12878	blood:	n/a	n/a
3	SIN3AK20	chr7:27134769-27137021	PANC-1	pancreas:	n/a	n/a
4	FOXA2	chr7:27134903-27136087	A549	lung:	n/a	n/a
5	MAZ	chr7:27134832-27137306	IMR90	lung:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
6	CHD1	chr7:27134717-27152399	IMR90	lung:	n/a	chr7:27141647-27141657
7	SUZ12	chr7:27134939-27135394	H1-hESC	embryonic stem cell:	n/a	n/a

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
ENSG00000253508	Chromatin interaction
ENSG00000106031	Chromatin interaction
ENSG00000253552	Chromatin interaction
ENSG00000005020	Chromatin interaction
ENSG00000243766	Chromatin interaction
ENSG00000213786	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11563590	1.00[AMR][1000 genomes]
rs17464632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17464646	1.00[AFR][1000 genomes]
rs17465132	1.00[AMR][1000 genomes]
rs17499525	1.00[AMR][1000 genomes]
rs57466822	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27128600-27135000	Weak transcription	NHLF	lung
2	chr7:27134000-27135000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:27134000-27135200	Enhancers	Spleen	Spleen
4	chr7:27134000-27135600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:27134000-27137000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:27134200-27135000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
7	chr7:27134200-27135000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr7:27134200-27135000	Enhancers	Esophagus	oesophagus
9	chr7:27134200-27135000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr7:27134200-27135000	Enhancers	Gastric	stomach
11	chr7:27134200-27135000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr7:27134200-27135000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr7:27134200-27137000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr7:27134400-27135200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr7:27134400-27135200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:27134400-27135200	Flanking Active TSS	Osteobl	bone
17	chr7:27134400-27135400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:27134400-27139000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:27134400-27139000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:27134400-27139000	Active TSS	HMEC	breast
21	chr7:27134600-27135000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr7:27134600-27135000	Bivalent Enhancer	Primary T cells from cord blood	blood
23	chr7:27134600-27135000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:27134600-27135000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:27134600-27135200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:27134600-27135400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
27	chr7:27134600-27136800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr7:27134600-27136800	Active TSS	A549	lung
29	chr7:27134600-27137400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:27134600-27137400	Active TSS	HSMMtube	muscle
31	chr7:27134600-27137400	Active TSS	NHEK	skin
32	chr7:27134600-27137600	Active TSS	Stomach Mucosa	stomach
33	chr7:27134800-27135000	Bivalent Enhancer	Primary B cells from cord blood	blood
34	chr7:27134800-27135000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
35	chr7:27134800-27135000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:27134800-27135000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
37	chr7:27134800-27135000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
38	chr7:27134800-27135000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
39	chr7:27134800-27135000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:27134800-27135000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:27134800-27135000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:27134800-27135000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:27134800-27135000	Active TSS	Colonic Mucosa	Colon
44	chr7:27134800-27135000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
45	chr7:27134800-27135000	Bivalent Enhancer	Fetal Intestine Large	intestine
46	chr7:27134800-27135000	Bivalent Enhancer	Fetal Lung	lung
47	chr7:27134800-27135000	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr7:27134800-27135000	Bivalent Enhancer	Fetal Thymus	thymus
49	chr7:27134800-27135200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:27134800-27135200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood

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