Variant report

Variant	rs28457808
Chromosome Location	chr7:99023246-99023247
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99011962..99013888-chr7:99021432..99023405,2	MCF-7	breast:
2	chr7:99021541..99023967-chr7:99034464..99036526,2	MCF-7	breast:
3	chr7:99020471..99023882-chr7:99024975..99028185,3	K562	blood:
4	chr7:99004763..99008262-chr7:99018470..99023968,5	MCF-7	breast:
5	chr7:99015338..99018021-chr7:99021014..99023356,3	MCF-7	breast:
6	chr7:99020429..99023882-chr7:99024975..99028179,3	K562	blood:

Variant related genes	Relation type
ENSG00000106244	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000106245	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1011024	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10155966	0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10238965	0.83[ASN][1000 genomes]
rs10243678	0.95[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10244158	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10249167	0.80[ASN][1000 genomes]
rs10254729	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10270459	0.81[AFR][1000 genomes]
rs10271049	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10271582	0.81[ASN][1000 genomes]
rs1043466	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10464604	0.81[ASN][1000 genomes]
rs11539770	0.81[ASN][1000 genomes]
rs11976018	0.84[ASN][1000 genomes]
rs12538826	0.81[ASN][1000 genomes]
rs13227795	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13240600	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13437771	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1980307	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2072181	0.81[ASN][1000 genomes]
rs2240384	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2240385	0.81[ASN][1000 genomes]
rs2272168	0.83[ASN][1000 genomes]
rs2280600	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2280601	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2404324	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28495024	0.95[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3137	0.84[ASN][1000 genomes]
rs34777615	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3779354	0.89[ASN][1000 genomes]
rs3843540	0.84[ASN][1000 genomes]
rs3901286	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6943920	0.92[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6962772	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7794682	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7794705	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7804551	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs883403	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs917154	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940336	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv888767	chr7:99017832-99050039	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv888768	chr7:99017832-99052428	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv888769	chr7:99018584-99041748	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
6	nsv888770	chr7:99021344-99041748	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99007200-99035400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:99007800-99024000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:99008000-99023400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:99008000-99023600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:99008000-99023800	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr7:99008000-99023800	Strong transcription	Placenta	Placenta
7	chr7:99008000-99024000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:99008000-99024000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:99008000-99024000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:99008000-99024000	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:99008000-99024000	Strong transcription	Spleen	Spleen
12	chr7:99008000-99024200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr7:99008000-99024200	Strong transcription	Fetal Stomach	stomach
14	chr7:99008000-99026600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:99008200-99023400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:99008200-99023600	Strong transcription	Fetal Intestine Large	intestine
17	chr7:99008200-99023800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:99008200-99023800	Strong transcription	Fetal Brain Female	brain
19	chr7:99008200-99023800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr7:99008200-99023800	Strong transcription	Fetal Muscle Leg	muscle
21	chr7:99008200-99024000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:99008200-99024000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:99008200-99024000	Strong transcription	Lung	lung
24	chr7:99008200-99024200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:99008400-99023400	Strong transcription	Fetal Thymus	thymus
26	chr7:99008400-99023600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:99008400-99023600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:99008400-99023600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:99008400-99023600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:99008400-99023800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:99008400-99023800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:99008400-99024000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:99008600-99023600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:99008600-99023600	Strong transcription	Primary T cells from cord blood	blood
35	chr7:99008600-99023600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:99008600-99023800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:99008600-99023800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr7:99008600-99024000	Strong transcription	Adipose Nuclei	Adipose
39	chr7:99008600-99024200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:99008800-99023400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr7:99008800-99023600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:99009400-99023600	Strong transcription	Dnd41	blood
43	chr7:99009600-99023400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr7:99010000-99024200	Strong transcription	Ovary	ovary
45	chr7:99011400-99035000	Weak transcription	Fetal Brain Male	brain
46	chr7:99011600-99024000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr7:99011600-99032200	Weak transcription	NHDF-Ad	bronchial
48	chr7:99012200-99023400	Strong transcription	A549	lung
49	chr7:99012200-99024000	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr7:99013000-99024200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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