Variant report

Variant	rs74054138
Chromosome Location	chr1:9953133-9953134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9951877..9955765-chr1:9967549..9972934,5	K562	blood:
2	chr1:9951877..9953921-chr1:9969781..9972106,2	K562	blood:
3	chr1:9950314..9954439-chr1:9967446..9971626,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178585	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11121499	0.85[AMR][1000 genomes]
rs11808614	0.83[AMR][1000 genomes]
rs11809921	0.81[AMR][1000 genomes]
rs3860318	0.85[AMR][1000 genomes]
rs3888014	0.85[AMR][1000 genomes]
rs4417070	0.81[AMR][1000 genomes]
rs57237552	0.83[AMR][1000 genomes]
rs58281392	0.85[AMR][1000 genomes]
rs59341676	0.85[AMR][1000 genomes]
rs59533551	0.85[AMR][1000 genomes]
rs60389428	0.85[AMR][1000 genomes]
rs61785229	0.85[AMR][1000 genomes]
rs61785586	0.85[AMR][1000 genomes]
rs61785590	0.85[AMR][1000 genomes]
rs61785591	0.83[AMR][1000 genomes]
rs61785593	0.83[AMR][1000 genomes]
rs61785598	0.83[AMR][1000 genomes]
rs6541067	0.83[AMR][1000 genomes]
rs6659441	0.83[AMR][1000 genomes]
rs6660069	0.81[AMR][1000 genomes]
rs6683824	0.85[AMR][1000 genomes]
rs6686017	0.83[AMR][1000 genomes]
rs6686710	0.81[AMR][1000 genomes]
rs6690524	0.83[AMR][1000 genomes]
rs72858042	0.81[AMR][1000 genomes]
rs72858053	0.81[AMR][1000 genomes]
rs74054125	0.83[AMR][1000 genomes]
rs7529783	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7533225	0.85[AMR][1000 genomes]
rs7536748	0.83[AMR][1000 genomes]
rs7537879	0.83[AMR][1000 genomes]
rs7554923	0.83[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	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer 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	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv545380	chr1:9918183-9987007	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9932600-9960200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:9935600-9960800	Weak transcription	Fetal Intestine Large	intestine
3	chr1:9936400-9960200	Weak transcription	Liver	Liver
4	chr1:9943000-9960200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:9943200-9961600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:9943600-9960800	Weak transcription	Primary T cells from cord blood	blood
7	chr1:9947000-9953600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:9948200-9955400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:9948600-9954600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:9948600-9954800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:9948800-9953400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:9948800-9953800	Enhancers	Placenta	Placenta
13	chr1:9948800-9954200	Enhancers	Fetal Thymus	thymus
14	chr1:9948800-9954400	Enhancers	Adipose Nuclei	Adipose
15	chr1:9948800-9954800	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:9949400-9967600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:9949600-9953200	Enhancers	Lung	lung
18	chr1:9949800-9953600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:9950600-9960600	Weak transcription	Brain Germinal Matrix	brain
20	chr1:9951000-9953200	Weak transcription	Gastric	stomach
21	chr1:9951200-9960600	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:9951200-9961600	Weak transcription	Fetal Brain Female	brain
23	chr1:9951400-9962000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:9951600-9953200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:9951600-9953200	Weak transcription	Psoas Muscle	Psoas
26	chr1:9951600-9953200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:9951600-9953200	Weak transcription	A549	lung
28	chr1:9951600-9953800	Weak transcription	Fetal Lung	lung
29	chr1:9951600-9954200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:9951600-9954200	Weak transcription	Spleen	Spleen
31	chr1:9951600-9957600	Weak transcription	Fetal Stomach	stomach
32	chr1:9951600-9960000	Weak transcription	Fetal Heart	heart
33	chr1:9951600-9960200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:9951600-9961800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:9951600-9969000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:9951800-9953200	Weak transcription	Right Ventricle	heart
37	chr1:9951800-9953400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:9951800-9960000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:9951800-9960400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:9951800-9960600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:9952400-9953200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:9952400-9953200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:9952400-9953200	Enhancers	NHLF	lung
44	chr1:9952400-9953200	Enhancers	Osteobl	bone
45	chr1:9952400-9953600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:9952400-9953600	Enhancers	NHDF-Ad	bronchial
47	chr1:9952400-9953800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr1:9952400-9954000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:9952400-9954400	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr1:9952400-9954400	Enhancers	Brain Anterior Caudate	brain

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