Variant report

Variant	rs74092611
Chromosome Location	chr1:77878142-77878143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs59272007	1.00[AMR][1000 genomes]
rs59814571	1.00[AMR][1000 genomes]
rs74090498	1.00[AMR][1000 genomes]
rs74090606	1.00[AMR][1000 genomes]
rs74090629	1.00[AMR][1000 genomes]
rs74090656	1.00[AMR][1000 genomes]
rs74092605	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74092606	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74092608	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74092612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74092614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74092615	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers 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	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77845200-77878400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:77872200-77893400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:77872200-77913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:77872600-77878200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:77872600-77878400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:77872600-77884000	Weak transcription	HSMMtube	muscle
7	chr1:77872800-77878600	Weak transcription	Brain Substantia Nigra	brain
8	chr1:77874600-77878400	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:77875000-77878400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:77875200-77879400	Weak transcription	Brain Anterior Caudate	brain
11	chr1:77876200-77878400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:77876600-77878400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:77876600-77878800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:77876600-77888600	Strong transcription	HSMM	muscle
15	chr1:77877000-77878800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:77877000-77878800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:77877000-77878800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:77877000-77879000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:77877000-77883000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:77877200-77878400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:77877200-77880200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:77877400-77879200	Enhancers	A549	lung
23	chr1:77877400-77879800	Weak transcription	Fetal Stomach	stomach
24	chr1:77877600-77878600	Bivalent Enhancer	Primary B cells from cord blood	blood
25	chr1:77877600-77879200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr1:77877600-77879400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:77877600-77880000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr1:77877800-77878200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:77877800-77878200	Genic enhancers	NHDF-Ad	bronchial
30	chr1:77877800-77878400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:77877800-77878600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:77877800-77878600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:77877800-77878800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:77877800-77878800	Enhancers	Primary hematopoietic stem cells	blood
35	chr1:77877800-77879000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr1:77877800-77879000	Flanking Active TSS	Hela-S3	cervix
37	chr1:77877800-77879000	Enhancers	HUVEC	blood vessel
38	chr1:77877800-77879200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:77877800-77879200	Genic enhancers	Muscle Satellite Cultured Cells	--
40	chr1:77878000-77878400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr1:77878000-77878600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:77878000-77878600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:77878000-77878800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:77878000-77878800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr1:77878000-77878800	Enhancers	NH-A	brain
46	chr1:77878000-77878800	Genic enhancers	NHLF	lung
47	chr1:77878000-77878800	Enhancers	Osteobl	bone
48	chr1:77878000-77879000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr1:77878000-77879000	Enhancers	Stomach Mucosa	stomach
50	chr1:77878000-77879000	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links