Variant report

Variant	rs628451
Chromosome Location	chr1:78546703-78546704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:78545378..78547879-chr1:78549298..78551293,2	K562	blood:
2	chr1:78541840..78545683-chr1:78546153..78548591,3	K562	blood:
3	chr1:78544183..78545976-chr1:78546306..78547975,2	K562	blood:
4	chr1:78468498..78473309-chr1:78543604..78549823,9	K562	blood:
5	chr1:78538964..78540901-chr1:78545942..78548029,2	K562	blood:
6	chr1:78544669..78546952-chr1:85187355..85190224,2	K562	blood:
7	chr1:78468459..78472043-chr1:78543604..78550841,13	K562	blood:
8	chr1:78441362..78443969-chr1:78545013..78547502,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162616	Chromatin interaction
ENSG00000273338	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1001070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1001103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1001104	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10437022	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs11162400	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs1166702	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs11807240	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs12405212	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs12409561	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs1335481	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes]
rs1555798	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs17382996	1.00[CEU][hapmap]
rs17383213	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs17387365	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs1855704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1971368	0.83[AMR][1000 genomes]
rs2274257	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs2296453	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs3767028	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs4949828	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs4949829	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs5001389	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504388	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568497	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs638335	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6424660	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6424664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6424668	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs661038	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662330	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs664818	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656888	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs6677890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs684579	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs693127	0.81[AMR][1000 genomes]
rs750720	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs7514007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7538210	0.83[AMR][1000 genomes]
rs9659938	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs9730688	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv870608	chr1:78520822-78594286	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78534800-78547200	Weak transcription	Fetal Intestine Large	intestine
2	chr1:78534800-78552400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:78535000-78566800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:78535200-78554600	Weak transcription	Fetal Intestine Small	intestine
5	chr1:78538200-78547800	Weak transcription	HSMMtube	muscle
6	chr1:78544200-78556400	Weak transcription	K562	blood
7	chr1:78544200-78558200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:78545000-78547000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:78545200-78547600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:78545400-78546800	Enhancers	Osteobl	bone
11	chr1:78545400-78561800	Weak transcription	Left Ventricle	heart
12	chr1:78545400-78562600	Weak transcription	Small Intestine	intestine
13	chr1:78545600-78547000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr1:78545600-78547200	Weak transcription	HepG2	liver
15	chr1:78545600-78547600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:78545800-78547000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:78545800-78547600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:78545800-78548400	Enhancers	HUVEC	blood vessel
19	chr1:78546000-78546800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:78546200-78546800	Active TSS	Monocytes-CD14+_RO01746	blood
21	chr1:78546200-78547000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr1:78546200-78547000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:78546200-78547600	Weak transcription	NHLF	lung
24	chr1:78546200-78547800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:78546200-78554600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:78546400-78546800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr1:78546400-78546800	Active TSS	Adipose Nuclei	Adipose
28	chr1:78546400-78546800	Active TSS	Ovary	ovary
29	chr1:78546400-78546800	Active TSS	A549	lung
30	chr1:78546400-78546800	Active TSS	NHDF-Ad	bronchial
31	chr1:78546400-78547000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:78546400-78547000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:78546400-78547000	Active TSS	Duodenum Mucosa	Duodenum
34	chr1:78546400-78547000	Active TSS	Right Atrium	heart
35	chr1:78546400-78547200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:78546600-78546800	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr1:78546600-78546800	Enhancers	Fetal Heart	heart
38	chr1:78546600-78547000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:78546600-78547000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr1:78546600-78547000	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr1:78546600-78547200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:78546600-78547800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:78546600-78547800	Weak transcription	HSMM	muscle
44	chr1:78546600-78579800	Weak transcription	Liver	Liver

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