Variant report

Variant	rs6666857
Chromosome Location	chr1:45467616-45467617
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45465440..45468490-chr1:45474969..45479261,5	MCF-7	breast:
2	chr1:45465674..45468338-chr1:45474492..45477550,3	MCF-7	breast:
3	chr1:45284388..45285918-chr1:45466927..45469619,2	MCF-7	breast:
4	chr1:45284681..45289780-chr1:45466475..45469909,5	MCF-7	breast:
5	chr1:45281186..45291350-chr1:45463934..45483092,44	K562	blood:
6	chr1:45464897..45467807-chr1:46048643..46051283,4	K562	blood:
7	chr1:45450275..45452843-chr1:45466530..45468587,2	MCF-7	breast:
8	chr1:45466176..45467776-chr1:45467983..45470171,2	MCF-7	breast:
9	chr1:45450854..45457330-chr1:45465047..45472849,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000070785	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000117425	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000232369	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1007005	1.00[AMR][1000 genomes]
rs10749853	1.00[AFR][1000 genomes]
rs10749855	1.00[AFR][1000 genomes]
rs10789453	0.82[AFR][1000 genomes]
rs1561794	1.00[AMR][1000 genomes]
rs174638	1.00[AMR][1000 genomes]
rs174639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1892476	1.00[AMR][1000 genomes]
rs2211646	1.00[AMR][1000 genomes]
rs264012	1.00[AMR][1000 genomes]
rs264016	1.00[AMR][1000 genomes]
rs264017	1.00[AMR][1000 genomes]
rs264018	1.00[AMR][1000 genomes]
rs2883814	1.00[AMR][1000 genomes]
rs35710243	1.00[AMR][1000 genomes]
rs418302	1.00[AMR][1000 genomes]
rs425780	1.00[AMR][1000 genomes]
rs4660829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs492515	1.00[AMR][1000 genomes]
rs57755658	1.00[AMR][1000 genomes]
rs58600794	1.00[AMR][1000 genomes]
rs58829168	1.00[AMR][1000 genomes]
rs59682873	1.00[AMR][1000 genomes]
rs60123910	1.00[AMR][1000 genomes]
rs61542654	1.00[AMR][1000 genomes]
rs6429553	1.00[AFR][1000 genomes]
rs6698485	1.00[AFR][1000 genomes]
rs7512216	0.87[AFR][1000 genomes]
rs7515390	1.00[AFR][1000 genomes]
rs7533668	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45452800-45467800	Weak transcription	Osteobl	bone
2	chr1:45452800-45475200	Weak transcription	Right Atrium	heart
3	chr1:45454600-45467800	Weak transcription	K562	blood
4	chr1:45459800-45468400	Weak transcription	Fetal Lung	lung
5	chr1:45460800-45468400	Weak transcription	HepG2	liver
6	chr1:45464600-45468000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:45464800-45467800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:45464800-45468600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:45465000-45470200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:45465200-45467800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:45465400-45467800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:45465400-45467800	Weak transcription	NH-A	brain
13	chr1:45465400-45468000	Enhancers	Adipose Nuclei	Adipose
14	chr1:45465600-45467800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:45465600-45467800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:45465600-45467800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:45465600-45467800	Weak transcription	HSMM	muscle
18	chr1:45465800-45467800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:45465800-45467800	Weak transcription	Brain Substantia Nigra	brain
20	chr1:45465800-45467800	Weak transcription	Fetal Intestine Large	intestine
21	chr1:45465800-45467800	Weak transcription	Gastric	stomach
22	chr1:45465800-45468000	Weak transcription	A549	lung
23	chr1:45466000-45468000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:45466000-45468000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:45466000-45468000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:45466000-45468000	Weak transcription	Dnd41	blood
27	chr1:45466000-45468400	Weak transcription	Small Intestine	intestine
28	chr1:45466000-45469600	Weak transcription	Hela-S3	cervix
29	chr1:45466200-45468000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:45466200-45468200	Weak transcription	Aorta	Aorta
31	chr1:45466200-45468400	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:45466400-45467800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:45466400-45467800	Weak transcription	Liver	Liver
34	chr1:45466400-45468400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:45466400-45468400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:45466600-45467800	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:45466600-45468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:45466600-45468400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:45466600-45468600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:45466600-45469600	Weak transcription	HUVEC	blood vessel
41	chr1:45466600-45470000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr1:45466600-45474800	Strong transcription	Fetal Brain Female	brain
43	chr1:45466600-45475000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:45466800-45467800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:45466800-45467800	Weak transcription	Primary B cells from cord blood	blood
46	chr1:45466800-45467800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:45466800-45468000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:45466800-45468000	Strong transcription	Fetal Intestine Small	intestine
49	chr1:45466800-45469000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:45466800-45469600	Weak transcription	HSMMtube	muscle

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