Variant report

Variant	rs74090629
Chromosome Location	chr1:78000173-78000174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77999652..78002822-chr1:78004325..78005902,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59090864	1.00[AMR][1000 genomes]
rs59272007	1.00[AMR][1000 genomes]
rs59814571	1.00[AMR][1000 genomes]
rs74090498	1.00[AMR][1000 genomes]
rs74090606	1.00[AMR][1000 genomes]
rs74090656	1.00[AMR][1000 genomes]
rs74090677	1.00[AMR][1000 genomes]
rs74090699	1.00[AMR][1000 genomes]
rs74092605	1.00[AMR][1000 genomes]
rs74092606	1.00[AMR][1000 genomes]
rs74092608	1.00[AMR][1000 genomes]
rs74092611	1.00[AMR][1000 genomes]
rs74092612	1.00[AMR][1000 genomes]
rs74092614	1.00[AMR][1000 genomes]
rs74092615	1.00[AMR][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	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
2	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
3	nsv871143	chr1:77955577-78031994	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1533	chr1:77990504-78036279	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77983000-78009200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:77996800-78001800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:77998000-78014000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:77998200-78000200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:77998200-78000200	Enhancers	Brain Angular Gyrus	brain
6	chr1:77998200-78000400	Enhancers	Brain Hippocampus Middle	brain
7	chr1:77998200-78000600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:77998200-78005000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:77998400-78000600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:77999200-78000600	Enhancers	NHLF	lung
11	chr1:77999200-78000800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:77999200-78001000	Enhancers	HUVEC	blood vessel
13	chr1:77999200-78002000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:77999200-78004600	Enhancers	NH-A	brain
15	chr1:77999400-78000200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:77999400-78000200	Enhancers	Brain Substantia Nigra	brain
17	chr1:77999400-78000200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr1:77999400-78001600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:77999600-78000200	Enhancers	Primary B cells from cord blood	blood
20	chr1:77999600-78000200	Flanking Active TSS	HepG2	liver
21	chr1:77999600-78000800	Weak transcription	Primary T cells from cord blood	blood
22	chr1:77999600-78001200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr1:77999600-78003800	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:77999600-78004000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:77999600-78009600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:77999800-78000200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:77999800-78000200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr1:77999800-78000200	Flanking Active TSS	A549	lung
29	chr1:77999800-78000400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:77999800-78000600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:77999800-78001000	Enhancers	NHEK	skin
32	chr1:77999800-78001600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:77999800-78005200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:78000000-78000200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:78000000-78000200	Enhancers	Brain Anterior Caudate	brain
36	chr1:78000000-78000200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr1:78000000-78000800	Enhancers	Osteobl	bone
38	chr1:78000000-78001000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr1:78000000-78001000	Weak transcription	Hela-S3	cervix
40	chr1:78000000-78001200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr1:78000000-78001400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:78000000-78001400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:78000000-78001600	Weak transcription	HMEC	breast
44	chr1:78000000-78001600	Weak transcription	HSMM	muscle
45	chr1:78000000-78002000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:78000000-78002000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:78000000-78002200	Weak transcription	HSMMtube	muscle
48	chr1:78000000-78002600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:78000000-78003600	Weak transcription	Liver	Liver
50	chr1:78000000-78003800	Genic enhancers	NHDF-Ad	bronchial

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