Variant report

Variant	rs61590597
Chromosome Location	chr1:224625376-224625377
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224624808..224626574-chr1:224690723..224692820,2	K562	blood:
2	chr1:224606906..224609708-chr1:224624793..224626933,3	MCF-7	breast:
3	chr1:224617651..224619446-chr1:224625035..224626931,2	MCF-7	breast:
4	chr1:224620020..224622844-chr1:224624641..224626201,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162923	Chromatin interaction
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10495218	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495221	0.86[AMR][1000 genomes]
rs11800357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11804538	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807149	0.85[AFR][1000 genomes]
rs11809688	0.85[AFR][1000 genomes]
rs11809710	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11810160	0.86[AMR][1000 genomes]
rs11812007	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1317205	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847784	0.85[AFR][1000 genomes]
rs16847858	0.85[AFR][1000 genomes]
rs16847870	0.82[AFR][1000 genomes]
rs16847871	0.85[AFR][1000 genomes]
rs16848356	0.93[AMR][1000 genomes]
rs16848382	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2211327	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57719044	0.84[AFR][1000 genomes]
rs58243680	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59734390	0.86[AMR][1000 genomes]
rs59804672	0.85[AMR][1000 genomes]
rs60063902	0.86[AMR][1000 genomes]
rs60349703	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs60627429	0.82[AFR][1000 genomes]
rs61000820	0.85[AFR][1000 genomes]
rs6687735	0.85[AMR][1000 genomes]
rs73123788	0.82[AFR][1000 genomes]
rs73123791	0.85[AFR][1000 genomes]
rs73125526	0.86[AMR][1000 genomes]
rs73125533	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125543	0.83[AFR][1000 genomes];0.93[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	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
6	nsv1013149	chr1:224605943-224646382	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv535312	chr1:224605943-224646382	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224623200-224626200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:224623200-224634800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:224623200-224644400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:224623400-224626400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:224623400-224626800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:224623400-224626800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:224623400-224628200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:224623400-224631600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:224623400-224633400	Weak transcription	Gastric	stomach
10	chr1:224623400-224634600	Weak transcription	Lung	lung
11	chr1:224623400-224634800	Weak transcription	Aorta	Aorta
12	chr1:224623400-224634800	Weak transcription	Left Ventricle	heart
13	chr1:224623400-224634800	Weak transcription	Ovary	ovary
14	chr1:224623400-224634800	Weak transcription	Right Atrium	heart
15	chr1:224623400-224638000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:224623400-224641000	Weak transcription	Fetal Intestine Large	intestine
17	chr1:224623400-224643000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:224623400-224644600	Weak transcription	Right Ventricle	heart
19	chr1:224623600-224625400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:224623600-224626800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:224623600-224627800	Weak transcription	Fetal Brain Female	brain
22	chr1:224623600-224627800	Weak transcription	Fetal Stomach	stomach
23	chr1:224623600-224628000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:224623600-224628800	Weak transcription	Brain Germinal Matrix	brain
25	chr1:224623600-224629800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:224623600-224630400	Weak transcription	Fetal Brain Male	brain
27	chr1:224623600-224635000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:224623600-224635600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:224623600-224636200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:224623600-224637400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:224623600-224642200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:224623600-224644600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:224623600-224644600	Weak transcription	Brain Substantia Nigra	brain
34	chr1:224623800-224626600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:224623800-224630200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:224623800-224632600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:224623800-224634800	Weak transcription	Stomach Mucosa	stomach
38	chr1:224623800-224635000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr1:224623800-224644400	Weak transcription	Brain Anterior Caudate	brain
40	chr1:224624000-224625400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:224624000-224625400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:224624000-224626400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:224624000-224626400	Weak transcription	Placenta	Placenta
44	chr1:224624000-224627800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:224624000-224628000	Weak transcription	Adipose Nuclei	Adipose
46	chr1:224624000-224628000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:224624000-224630400	Weak transcription	Primary B cells from cord blood	blood
48	chr1:224624000-224633000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:224624000-224633400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:224624000-224634000	Weak transcription	Liver	Liver

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