Variant report

Variant	rs74140155
Chromosome Location	chr1:227468944-227468945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227468377..227470578-chr1:227471178..227474571,3	K562	blood:
2	chr1:227453182..227454826-chr1:227468013..227470218,2	MCF-7	breast:
3	chr1:227468539..227470129-chr1:227473158..227475443,2	K562	blood:
4	chr1:227371203..227372814-chr1:227466811..227469363,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1015815	0.81[AFR][1000 genomes]
rs1015816	0.81[AFR][1000 genomes]
rs10916114	0.81[AFR][1000 genomes]
rs11800447	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808962	1.00[AMR][1000 genomes]
rs11810328	0.83[AFR][1000 genomes]
rs11811100	0.87[AMR][1000 genomes]
rs12741049	0.81[AFR][1000 genomes]
rs1464077	0.81[AFR][1000 genomes]
rs1546557	0.81[AFR][1000 genomes]
rs16847249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4282782	0.83[AFR][1000 genomes]
rs4354510	0.81[AFR][1000 genomes]
rs4434814	0.83[AFR][1000 genomes]
rs4437846	0.83[AFR][1000 genomes]
rs4518864	0.83[AFR][1000 genomes]
rs55805110	0.83[AFR][1000 genomes]
rs56352806	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56389454	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57454791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57752854	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58594824	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58912997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59121440	0.83[AFR][1000 genomes]
rs59136460	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60068245	0.81[AFR][1000 genomes]
rs60742095	0.83[AFR][1000 genomes]
rs61081394	0.83[AFR][1000 genomes]
rs6659506	0.83[AFR][1000 genomes]
rs73092520	1.00[AMR][1000 genomes]
rs73092602	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094331	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094355	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73096883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098394	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100309	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102304	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102308	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140153	0.80[AFR][1000 genomes]
rs7515739	0.83[AFR][1000 genomes]
rs7525352	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3453491	chr1:227462942-227482283	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3453492	chr1:227462956-227482280	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227431600-227486200	Weak transcription	NHDF-Ad	bronchial
2	chr1:227433000-227469000	Weak transcription	Aorta	Aorta
3	chr1:227443400-227474000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:227447200-227473600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:227449600-227473600	Weak transcription	NH-A	brain
6	chr1:227454200-227470400	Weak transcription	Ovary	ovary
7	chr1:227458600-227469400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:227458800-227472200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:227459400-227469400	Weak transcription	NHEK	skin
10	chr1:227462600-227473600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:227462600-227500200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:227463000-227473000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:227464400-227469000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:227464400-227472800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:227464400-227472800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:227464600-227469400	Weak transcription	Gastric	stomach
17	chr1:227465400-227472200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:227466200-227473200	Weak transcription	A549	lung
19	chr1:227466800-227472400	Weak transcription	Fetal Intestine Large	intestine
20	chr1:227467000-227472600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:227467200-227485800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:227468000-227469600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:227468400-227471000	Weak transcription	Pancreas	Pancrea
24	chr1:227468600-227469000	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:227468600-227469000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr1:227468600-227469000	ZNF genes & repeats	K562	blood
27	chr1:227468600-227469200	Enhancers	Lung	lung
28	chr1:227468600-227469200	Enhancers	Psoas Muscle	Psoas
29	chr1:227468600-227469200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:227468600-227469400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:227468600-227469400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:227468600-227469400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:227468600-227469400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:227468600-227469600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr1:227468600-227469600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:227468600-227469600	Enhancers	Right Atrium	heart
37	chr1:227468600-227469600	Enhancers	Right Ventricle	heart
38	chr1:227468600-227470200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr1:227468600-227472600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:227468800-227469000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:227468800-227469000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
42	chr1:227468800-227469200	Genic enhancers	Left Ventricle	heart
43	chr1:227468800-227469200	ZNF genes & repeats	HSMM	muscle
44	chr1:227468800-227469400	Weak transcription	Brain Anterior Caudate	brain
45	chr1:227468800-227469600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:227468800-227469600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:227468800-227469600	ZNF genes & repeats	Fetal Muscle Leg	muscle

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