Variant report

Variant	rs55996125
Chromosome Location	chr1:92198568-92198569
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	chr1:92192178..92194320-chr1:92196821..92198679,2	K562	blood:
2	chr1:92195746..92200158-chr1:92212228..92214643,4	K562	blood:
3	chr1:92196121..92198991-chr1:92207192..92209304,2	MCF-7	breast:
4	chr1:92196960..92199922-chr1:92201744..92205146,4	K562	blood:
5	chr1:92198152..92200213-chr1:92201193..92206399,7	K562	blood:
6	chr1:92196725..92200248-chr1:92206849..92210560,4	K562	blood:
7	chr1:92197642..92200532-chr1:92350997..92352784,2	K562	blood:
8	chr1:92178299..92180371-chr1:92198181..92200886,2	K562	blood:
9	chr1:92196718..92198594-chr1:92235219..92237131,2	K562	blood:
10	chr1:92197202..92203288-chr1:92206365..92210533,5	K562	blood:
11	chr1:92198271..92200616-chr1:92212506..92214595,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000069702	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10874915	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11466579	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11579207	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11582136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11582616	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13374915	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17131544	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17886908	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6677523	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs923377	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs923378	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92173200-92202400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:92189200-92202200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:92190600-92201400	Genic enhancers	NHDF-Ad	bronchial
4	chr1:92191800-92204000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:92192600-92200600	Genic enhancers	Fetal Muscle Leg	muscle
6	chr1:92193000-92202400	Weak transcription	Aorta	Aorta
7	chr1:92193600-92200600	Strong transcription	HepG2	liver
8	chr1:92194400-92201000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:92194600-92198800	Genic enhancers	Fetal Lung	lung
10	chr1:92195000-92199400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:92195000-92199400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:92195400-92198600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:92195400-92198800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr1:92195600-92198600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:92195600-92199200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:92195600-92199200	Enhancers	Fetal Thymus	thymus
17	chr1:92195800-92199400	Genic enhancers	Fetal Stomach	stomach
18	chr1:92196000-92201200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:92196200-92198800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:92196200-92198800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr1:92196200-92199000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:92196200-92199000	Enhancers	Colon Smooth Muscle	Colon
23	chr1:92196200-92199200	Genic enhancers	NHLF	lung
24	chr1:92196400-92198600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:92196400-92198600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:92196400-92198800	Enhancers	NH-A	brain
27	chr1:92196400-92200200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:92196600-92198600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:92196600-92198800	Enhancers	HSMMtube	muscle
30	chr1:92196600-92199000	Enhancers	Lung	lung
31	chr1:92196600-92199400	Enhancers	Rectal Smooth Muscle	rectum
32	chr1:92196600-92199600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:92196800-92198800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:92196800-92198800	Flanking Active TSS	Osteobl	bone
35	chr1:92196800-92199000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:92196800-92199000	Flanking Active TSS	K562	blood
37	chr1:92196800-92199200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:92197000-92198600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:92197000-92199000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr1:92197000-92215200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:92197200-92202400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:92197200-92202600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:92197200-92215400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:92197400-92198800	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr1:92197600-92198800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:92197600-92198800	Flanking Active TSS	Hela-S3	cervix
47	chr1:92197600-92203000	Enhancers	Fetal Intestine Small	intestine
48	chr1:92197600-92203400	Enhancers	Fetal Intestine Large	intestine
49	chr1:92197600-92230000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:92197800-92199000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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