Variant report

Variant	rs6660168
Chromosome Location	chr1:227433030-227433031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10916112	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10916113	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10916116	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10916125	0.92[AMR][1000 genomes]
rs11576239	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11584325	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11585910	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12119153	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12119448	1.00[AFR][1000 genomes]
rs12121729	0.85[AFR][1000 genomes]
rs12123597	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12128174	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131061	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12131459	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131933	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12133230	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12133633	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12134379	0.85[AFR][1000 genomes]
rs12138092	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12138364	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12138383	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12138664	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12141838	0.85[AFR][1000 genomes]
rs12144205	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12746316	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12747807	1.00[AFR][1000 genomes]
rs12752546	0.85[AFR][1000 genomes]
rs12754677	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12755770	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513607	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1513613	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17613235	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2063661	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28648445	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34113967	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs34702208	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34897490	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35160496	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35952573	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4308948	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61834323	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61834324	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61834326	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61834590	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834625	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61834626	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6675572	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6678714	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6697583	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7512871	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7518813	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7523759	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7539662	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7543419	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7548118	0.96[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227386200-227433400	Weak transcription	Fetal Stomach	stomach
2	chr1:227414000-227433200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:227414000-227459200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:227414200-227433400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:227414200-227453800	Weak transcription	HSMM	muscle
6	chr1:227415800-227456800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:227420800-227434600	Weak transcription	Spleen	Spleen
8	chr1:227424800-227440800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:227425400-227445200	Weak transcription	Osteobl	bone
10	chr1:227427200-227433200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:227430600-227433400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr1:227430600-227434000	Enhancers	Brain Anterior Caudate	brain
13	chr1:227430600-227434000	Enhancers	Pancreas	Pancrea
14	chr1:227430600-227434600	Enhancers	Fetal Heart	heart
15	chr1:227430800-227433200	Enhancers	Ovary	ovary
16	chr1:227430800-227434200	Enhancers	Gastric	stomach
17	chr1:227431000-227433600	Enhancers	Stomach Smooth Muscle	stomach
18	chr1:227431400-227434000	Enhancers	Brain Hippocampus Middle	brain
19	chr1:227431400-227434200	Enhancers	Brain Cingulate Gyrus	brain
20	chr1:227431600-227435400	Weak transcription	NHLF	lung
21	chr1:227431600-227486200	Weak transcription	NHDF-Ad	bronchial
22	chr1:227431800-227439200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:227431800-227443000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:227432000-227433600	Enhancers	Duodenum Mucosa	Duodenum
25	chr1:227432000-227434400	Enhancers	Brain Substantia Nigra	brain
26	chr1:227432000-227434800	Enhancers	HepG2	liver
27	chr1:227432000-227435200	Weak transcription	Fetal Brain Female	brain
28	chr1:227432000-227459200	Weak transcription	Fetal Lung	lung
29	chr1:227432200-227433200	Enhancers	Stomach Mucosa	stomach
30	chr1:227432200-227434200	Enhancers	Right Atrium	heart
31	chr1:227432200-227455400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:227432400-227433400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:227432400-227433600	Enhancers	Small Intestine	intestine
34	chr1:227432400-227434000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:227432400-227434000	Weak transcription	Placenta	Placenta
36	chr1:227432400-227434200	Enhancers	Adipose Nuclei	Adipose
37	chr1:227432400-227434200	Enhancers	Left Ventricle	heart
38	chr1:227432400-227434200	Enhancers	Right Ventricle	heart
39	chr1:227432400-227434800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:227432400-227434800	Enhancers	HMEC	breast
41	chr1:227432400-227435000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr1:227432600-227433200	Enhancers	NHEK	skin
43	chr1:227432600-227433400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:227432600-227433800	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:227432600-227434000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:227432600-227434000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:227432600-227434200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:227432600-227434200	Enhancers	Lung	lung
49	chr1:227432600-227434800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:227432600-227435200	Enhancers	Liver	Liver

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