Variant report

Variant	rs1431934
Chromosome Location	chr4:187766797-187766798
allele	G/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:187762414..187767903-chr4:187771825..187775014,7	K562	blood:
2	chr4:187644243..187647886-chr4:187765667..187770320,5	K562	blood:
3	chr4:187679251..187682200-chr4:187764092..187767213,3	K562	blood:
4	chr4:187764771..187768253-chr4:187793042..187796524,4	K562	blood:
5	chr4:187419874..187422872-chr4:187765170..187767723,2	K562	blood:
6	chr4:184365198..184366816-chr4:187765202..187767169,2	K562	blood:
7	chr4:187766368..187767880-chr4:187768124..187769704,2	K562	blood:
8	chr4:187765084..187768724-chr4:187798597..187801696,3	K562	blood:
9	chr4:187765345..187768109-chr4:187793611..187797439,3	K562	blood:
10	chr4:187765556..187770038-chr4:187777657..187782373,4	K562	blood:
11	chr4:187675660..187683717-chr4:187759108..187768484,20	K562	blood:
12	chr4:187765177..187771006-chr4:187807000..187811310,9	K562	blood:
13	chr4:187765177..187768069-chr4:187809539..187811310,3	K562	blood:
14	chr4:187766677..187768346-chr4:187783424..187785268,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000083857	Chromatin interaction
ENSG00000251165	Chromatin interaction
ENSG00000168564	Chromatin interaction
ENSG00000252382	Chromatin interaction
ENSG00000212387	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10006400	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1431927	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1431930	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1431933	1.00[CEU][hapmap]
rs1560547	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs167721	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1821137	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1835748	0.84[ASN][1000 genomes]
rs2241672	0.86[ASN][1000 genomes]
rs2375938	1.00[CEU][hapmap]
rs322408	1.00[CEU][hapmap]
rs443846	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59618202	0.86[ASN][1000 genomes]
rs60226958	0.86[ASN][1000 genomes]
rs73023676	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1031603	chr4:187636716-188020741	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv880401	chr4:187668795-188047143	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv596441	chr4:187695564-187786316	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187764400-187766800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:187764400-187767000	Flanking Active TSS	K562	blood
3	chr4:187764600-187767000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:187764800-187767400	Enhancers	Fetal Intestine Large	intestine
5	chr4:187765000-187767200	Enhancers	Small Intestine	intestine
6	chr4:187765200-187766800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:187765200-187766800	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr4:187765200-187766800	Flanking Active TSS	NH-A	brain
9	chr4:187765200-187767000	Flanking Active TSS	Hela-S3	cervix
10	chr4:187765200-187767000	Flanking Active TSS	HUVEC	blood vessel
11	chr4:187765200-187767000	Flanking Active TSS	Osteobl	bone
12	chr4:187765200-187767200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr4:187765400-187766800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:187765400-187767400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:187765600-187766800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:187765600-187767200	Enhancers	Fetal Intestine Small	intestine
17	chr4:187765600-187769000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:187765800-187766800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:187765800-187766800	Enhancers	Fetal Muscle Leg	muscle
20	chr4:187765800-187767000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:187765800-187767000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:187765800-187767000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr4:187765800-187767200	Enhancers	Stomach Mucosa	stomach
24	chr4:187766000-187766800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:187766000-187766800	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr4:187766000-187766800	Enhancers	Fetal Stomach	stomach
27	chr4:187766000-187766800	Enhancers	Rectal Smooth Muscle	rectum
28	chr4:187766000-187767000	Enhancers	HSMM	muscle
29	chr4:187766000-187767000	Enhancers	HSMMtube	muscle
30	chr4:187766000-187767800	Enhancers	NHLF	lung
31	chr4:187766000-187768000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr4:187766000-187768200	Enhancers	HepG2	liver
33	chr4:187766200-187766800	Enhancers	Colon Smooth Muscle	Colon
34	chr4:187766200-187767000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:187766200-187767000	Enhancers	Ovary	ovary
36	chr4:187766200-187767000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr4:187766200-187767000	Enhancers	HMEC	breast
38	chr4:187766200-187768200	Enhancers	NHDF-Ad	bronchial
39	chr4:187766200-187768400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:187766400-187766800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:187766400-187766800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr4:187766400-187766800	Enhancers	Esophagus	oesophagus
43	chr4:187766400-187766800	Enhancers	Fetal Muscle Trunk	muscle
44	chr4:187766400-187766800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr4:187766400-187766800	Enhancers	A549	lung
46	chr4:187766400-187767400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:187766600-187766800	Flanking Active TSS	NHEK	skin
48	chr4:187766600-187767400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:187766600-187767600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:187766600-187768200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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