Variant report

Variant	rs10495220
Chromosome Location	chr1:224574972-224574973
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224574203..224575764-chr1:224577770..224579647,2	MCF-7	breast:
2	chr1:224574292..224576702-chr1:224621089..224623185,2	K562	blood:
3	chr1:224568653..224571407-chr1:224574345..224577336,2	MCF-7	breast:
4	chr1:224570342..224572571-chr1:224573796..224575768,2	K562	blood:
5	chr1:224572039..224576189-chr1:224576688..224579602,3	K562	blood:

Variant related genes	Relation type
ENSG00000162923	Chromatin interaction
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10799573	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10799574	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12075578	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12120702	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12121977	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12124686	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12128292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12134167	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12140423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6684878	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6693653	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72758316	0.97[EUR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 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	chr1:224545800-224605000	Weak transcription	Aorta	Aorta
2	chr1:224547000-224593200	Weak transcription	Stomach Mucosa	stomach
3	chr1:224547400-224618600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:224548000-224576000	Weak transcription	Fetal Brain Male	brain
5	chr1:224555800-224581400	Weak transcription	Fetal Heart	heart
6	chr1:224556000-224591000	Weak transcription	Small Intestine	intestine
7	chr1:224563000-224577200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:224563000-224593400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:224564600-224576600	Weak transcription	Ovary	ovary
10	chr1:224565000-224575000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:224565000-224575800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:224565000-224576800	Weak transcription	NHEK	skin
13	chr1:224565000-224577200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:224565000-224577200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:224565000-224577200	Weak transcription	Colonic Mucosa	Colon
16	chr1:224565000-224577200	Weak transcription	Pancreas	Pancrea
17	chr1:224565000-224577200	Weak transcription	Spleen	Spleen
18	chr1:224565000-224581200	Weak transcription	Right Ventricle	heart
19	chr1:224565000-224582600	Weak transcription	Esophagus	oesophagus
20	chr1:224565000-224586200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:224565200-224576000	Weak transcription	Hela-S3	cervix
22	chr1:224565400-224577000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:224565600-224575000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:224565800-224576600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:224566000-224576000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:224566000-224576800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:224566200-224575000	Weak transcription	Left Ventricle	heart
28	chr1:224566200-224576400	Weak transcription	HepG2	liver
29	chr1:224566200-224577000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:224566200-224577200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:224566400-224577800	Weak transcription	Fetal Intestine Small	intestine
32	chr1:224567000-224577400	Weak transcription	Lung	lung
33	chr1:224567000-224577600	Weak transcription	Gastric	stomach
34	chr1:224567000-224579600	Weak transcription	Psoas Muscle	Psoas
35	chr1:224567200-224577000	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:224567400-224575200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:224567400-224575200	Weak transcription	Fetal Lung	lung
38	chr1:224567400-224575400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:224567400-224575400	Weak transcription	Brain Substantia Nigra	brain
40	chr1:224567400-224575400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:224567400-224576000	Weak transcription	Fetal Kidney	kidney
42	chr1:224567400-224576600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:224567400-224576800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:224567400-224582400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:224567600-224575200	Weak transcription	Fetal Intestine Large	intestine
46	chr1:224568000-224575000	Weak transcription	Brain Anterior Caudate	brain
47	chr1:224568000-224577000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:224568000-224577000	Weak transcription	Brain Germinal Matrix	brain
49	chr1:224568000-224577000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr1:224568000-224579600	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links