Variant report

Variant	rs6695545
Chromosome Location	chr1:227958651-227958652
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227943509..227946452-chr1:227956014..227958936,2	K562	blood:
2	chr1:227955528..227959696-chr1:228132593..228135770,4	MCF-7	breast:
3	chr1:227922298..227924299-chr1:227956346..227958728,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143816	Chromatin interaction
ENSG00000081692	Chromatin interaction
ENSG00000143740	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12064596	0.82[AMR][1000 genomes]
rs13376549	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2031132	0.85[ASN][1000 genomes]
rs2093611	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2236358	0.80[AMR][1000 genomes]
rs2273938	0.82[AMR][1000 genomes]
rs35582095	0.88[ASN][1000 genomes]
rs61521615	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6674275	0.82[AMR][1000 genomes]
rs6679352	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6688900	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66969031	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6697061	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6704268	0.88[ASN][1000 genomes]
rs67502955	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs72632836	0.82[AMR][1000 genomes]
rs72632837	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72632838	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7555052	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9651013	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv515496	chr1:227912474-227967938	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv468238	chr1:227935762-228045748	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv549272	chr1:227935762-228045748	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1005852	chr1:227957099-228148363	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
12	nsv535319	chr1:227957099-228148363	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227946000-227960400	Strong transcription	Fetal Brain Female	brain
2	chr1:227950800-227963000	Strong transcription	Brain Germinal Matrix	brain
3	chr1:227950800-227974200	Weak transcription	Small Intestine	intestine
4	chr1:227951000-227963200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:227951200-227974400	Weak transcription	Right Atrium	heart
6	chr1:227951400-227963200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:227951600-227961800	Strong transcription	Fetal Stomach	stomach
8	chr1:227951600-227963600	Weak transcription	HUVEC	blood vessel
9	chr1:227951800-227970600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:227952000-227959000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:227952000-227962000	Weak transcription	NHDF-Ad	bronchial
12	chr1:227952200-227960200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:227952200-227962400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:227953200-227959800	Strong transcription	NHLF	lung
15	chr1:227953200-227960400	Strong transcription	Stomach Smooth Muscle	stomach
16	chr1:227953600-227958800	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr1:227953600-227958800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:227954000-227958800	Strong transcription	HSMMtube	muscle
19	chr1:227954000-227959800	Strong transcription	Dnd41	blood
20	chr1:227954000-227962600	Strong transcription	Adipose Nuclei	Adipose
21	chr1:227954400-227963800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:227954400-227974600	Weak transcription	HMEC	breast
23	chr1:227954600-227959000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:227954600-227959000	Strong transcription	HepG2	liver
25	chr1:227954600-227960200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:227954600-227960200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:227954600-227963200	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:227954600-227963200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:227954800-227958800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:227954800-227964400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr1:227955000-227962200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:227955200-227958800	Strong transcription	Right Ventricle	heart
33	chr1:227955200-227959000	Strong transcription	Brain Hippocampus Middle	brain
34	chr1:227955200-227959800	Strong transcription	Ovary	ovary
35	chr1:227955200-227964800	Strong transcription	Liver	Liver
36	chr1:227955400-227958800	Strong transcription	Primary T cells from cord blood	blood
37	chr1:227955400-227958800	Strong transcription	Primary hematopoietic stem cells	blood
38	chr1:227955400-227959200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:227955400-227959200	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:227955400-227959600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:227955400-227960000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:227955400-227960200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:227955400-227961000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:227955600-227959200	Strong transcription	Brain Angular Gyrus	brain
45	chr1:227955600-227960200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:227955600-227960200	Strong transcription	Gastric	stomach
47	chr1:227955600-227960200	Strong transcription	Pancreas	Pancrea
48	chr1:227955600-227960200	Strong transcription	Spleen	Spleen
49	chr1:227955600-227960400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:227955600-227960600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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