Variant report

Variant	rs34767248
Chromosome Location	chr1:222793770-222793771
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:222792534..222794480-chr1:222797586..222800158,2	MCF-7	breast:
2	chr1:222639000..222642188-chr1:222791446..222794042,3	MCF-7	breast:
3	chr1:222760074..222764679-chr1:222790714..222794830,7	K562	blood:
4	chr1:222788058..222793799-chr1:222815102..222819462,10	K562	blood:
5	chr1:222790877..222794262-chr1:222817668..222820285,3	MCF-7	breast:
6	chr1:222720437..222722735-chr1:222793339..222795136,2	MCF-7	breast:
7	chr1:222765298..222768386-chr1:222792125..222794006,3	K562	blood:
8	chr1:222725040..222727583-chr1:222792195..222794403,2	K562	blood:
9	chr1:222791253..222793444-chr1:222793463..222795812,3	MCF-7	breast:
10	chr1:222761959..222766700-chr1:222790061..222794365,7	MCF-7	breast:
11	chr1:222760723..222765796-chr1:222790714..222795393,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143512	Chromatin interaction
ENSG00000234419	Chromatin interaction
ENSG00000143498	Chromatin interaction
ENSG00000154305	Chromatin interaction
ENSG00000229399	Chromatin interaction
ENSG00000225265	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10495198	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1133220	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12138316	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17011666	0.82[ASN][1000 genomes]
rs17011681	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17163301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17163313	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17163345	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17163358	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17163360	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17163363	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17465637	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17465940	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17465982	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1909195	0.84[ASN][1000 genomes]
rs2133187	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2133189	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2291832	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2291834	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2378584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28709375	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35158675	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35626308	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35700460	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3748626	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4575092	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4846384	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4846769	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4846770	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67180937	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71524942	0.86[EUR][1000 genomes]
rs9441835	0.96[ASN][1000 genomes]
rs9441926	0.96[ASN][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222792400-222816600	Weak transcription	Small Intestine	intestine
2	chr1:222792600-222794400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:222792600-222800000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:222792600-222801400	Weak transcription	Lung	lung
5	chr1:222792600-222802200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:222792600-222802200	Weak transcription	Aorta	Aorta
7	chr1:222792600-222816600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:222792600-222817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:222792800-222793800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr1:222792800-222793800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:222792800-222794000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:222792800-222794200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr1:222792800-222794600	Weak transcription	Fetal Thymus	thymus
14	chr1:222792800-222795200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:222792800-222795400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:222792800-222796000	Weak transcription	Brain Germinal Matrix	brain
17	chr1:222792800-222796200	Weak transcription	A549	lung
18	chr1:222792800-222802000	Weak transcription	Colonic Mucosa	Colon
19	chr1:222793000-222794600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:222793000-222794600	Weak transcription	Left Ventricle	heart
21	chr1:222793000-222794800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:222793000-222795400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:222793000-222795600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:222793000-222795600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:222793000-222796000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:222793000-222796200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:222793000-222797000	Weak transcription	Fetal Intestine Large	intestine
28	chr1:222793000-222798800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:222793000-222799000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:222793000-222799800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:222793000-222800200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:222793000-222802200	Weak transcription	HSMMtube	muscle
33	chr1:222793200-222793800	Enhancers	GM12878-XiMat	blood
34	chr1:222793200-222794200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr1:222793200-222794200	Enhancers	Liver	Liver
36	chr1:222793200-222794200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr1:222793200-222794200	Enhancers	Stomach Mucosa	stomach
38	chr1:222793200-222794200	Enhancers	HepG2	liver
39	chr1:222793200-222794400	Enhancers	Dnd41	blood
40	chr1:222793200-222794600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:222793200-222794600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:222793200-222794600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:222793200-222794600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:222793200-222794600	Weak transcription	Adipose Nuclei	Adipose
45	chr1:222793200-222794600	Weak transcription	Fetal Stomach	stomach
46	chr1:222793200-222794800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:222793200-222794800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr1:222793200-222794800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr1:222793200-222794800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:222793200-222794800	Weak transcription	NHDF-Ad	bronchial

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