Variant report

Variant	rs74148140
Chromosome Location	chr1:222762200-222762201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr1:222761822-222764156	SK-N-SH	brain:	n/a	chr1:222762906-222762921 chr1:222762904-222762919

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:222762024..222764722-chr1:222816738..222818394,2	MCF-7	breast:
2	chr1:222761959..222766700-chr1:222790061..222794365,7	MCF-7	breast:
3	chr1:222762075..222764721-chr1:222883311..222887470,5	K562	blood:
4	chr1:222760074..222764679-chr1:222790714..222794830,7	K562	blood:
5	chr1:222760324..222764721-chr1:222884429..222887789,6	K562	blood:
6	chr1:222761567..222764879-chr1:222790132..222793494,4	MCF-7	breast:
7	chr1:222761198..222763394-chr1:222816241..222819069,2	K562	blood:
8	chr1:222760723..222765796-chr1:222790714..222795393,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225265	TF binding region
ENSG00000154305	Chromatin interaction
ENSG00000162819	Chromatin interaction
ENSG00000186063	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1024065	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495194	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17463740	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17464857	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17511318	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1909194	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982983	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006790	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2936030	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2936039	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2936041	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3002130	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008645	0.83[EUR][1000 genomes]
rs3008647	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3008653	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3008654	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35750438	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4328077	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122816	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122823	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122834	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122837	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122849	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122850	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122857	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74145503	0.91[AMR][1000 genomes]
rs74148133	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74148142	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9441911	0.81[EUR][1000 genomes];1.00[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	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv1842070	chr1:222732027-222763235	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	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:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222721200-222762200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:222721800-222762400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:222725600-222762200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:222727600-222762600	Weak transcription	Aorta	Aorta
5	chr1:222727800-222762400	Weak transcription	Thymus	Thymus
6	chr1:222728200-222762200	Weak transcription	Small Intestine	intestine
7	chr1:222729600-222762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:222731200-222762400	Weak transcription	Spleen	Spleen
9	chr1:222731600-222762200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:222733600-222762400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:222733800-222762200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:222734000-222762400	Weak transcription	Right Ventricle	heart
13	chr1:222734200-222762400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:222734800-222762200	Weak transcription	Colonic Mucosa	Colon
15	chr1:222742200-222762400	Weak transcription	Fetal Kidney	kidney
16	chr1:222742800-222762200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:222743000-222762400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:222743600-222762200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:222745800-222762200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:222746000-222762600	Weak transcription	Lung	lung
21	chr1:222751000-222762600	Weak transcription	Left Ventricle	heart
22	chr1:222751600-222762200	Weak transcription	Fetal Heart	heart
23	chr1:222756000-222762200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:222756000-222762200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:222756200-222762200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:222756400-222762200	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:222756400-222762200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:222756400-222762400	Weak transcription	Esophagus	oesophagus
29	chr1:222757000-222762400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:222757000-222762400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:222757200-222762200	Weak transcription	Fetal Intestine Small	intestine
32	chr1:222757200-222762200	Weak transcription	Fetal Stomach	stomach
33	chr1:222757200-222762200	Weak transcription	Ovary	ovary
34	chr1:222757200-222762400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:222757400-222762200	Weak transcription	Fetal Brain Female	brain
36	chr1:222757600-222762400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:222757600-222762400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:222757800-222762200	Weak transcription	HSMMtube	muscle
39	chr1:222758400-222762200	Weak transcription	Stomach Mucosa	stomach
40	chr1:222759600-222762400	Weak transcription	Gastric	stomach
41	chr1:222759600-222762400	Weak transcription	Pancreas	Pancrea
42	chr1:222759800-222762200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:222759800-222762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:222760000-222762200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:222760000-222762200	Active TSS	GM12878-XiMat	blood
46	chr1:222760200-222762200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:222760200-222762400	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:222760400-222762200	Weak transcription	Fetal Intestine Large	intestine
49	chr1:222760600-222762200	Weak transcription	Adipose Nuclei	Adipose
50	chr1:222760600-222762200	Weak transcription	Brain Substantia Nigra	brain

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