Variant report

Variant	rs1767598
Chromosome Location	chr1:47080307-47080308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47079661..47082285-chr1:47135813..47137705,2	K562	blood:
2	chr1:47069390..47072755-chr1:47079314..47082367,4	MCF-7	breast:
3	chr1:47078421..47080865-chr1:47080975..47083544,2	MCF-7	breast:
4	chr1:47076423..47078358-chr1:47078950..47080736,2	K562	blood:
5	chr1:47077660..47081751-chr1:47132686..47135354,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186118	Chromatin interaction
ENSG00000142961	Chromatin interaction
ENSG00000079277	Chromatin interaction
ENSG00000123472	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12060644	1.00[EUR][1000 genomes]
rs1258010	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1258022	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1258050	1.00[ASN][1000 genomes]
rs1258051	1.00[ASN][1000 genomes]
rs1767612	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274422	1.00[EUR][1000 genomes]
rs2476166	0.96[ASN][1000 genomes]
rs3737742	1.00[EUR][1000 genomes]
rs57340268	1.00[EUR][1000 genomes]
rs57954022	1.00[EUR][1000 genomes]
rs58591480	1.00[EUR][1000 genomes]
rs60081306	1.00[EUR][1000 genomes]
rs7549865	1.00[EUR][1000 genomes]
rs946321	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers 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 target site	17 gene(s)	inside rSNPs	diseases
4	nsv870392	chr1:47040676-47095097	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr1:47070400-47081200	Weak transcription	Fetal Brain Male	brain
2	chr1:47076400-47081400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:47076800-47080400	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr1:47076800-47081800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:47077000-47081000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr1:47077000-47081000	Enhancers	Brain Anterior Caudate	brain
7	chr1:47077000-47081200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr1:47077000-47081400	Enhancers	Left Ventricle	heart
9	chr1:47077000-47081400	Enhancers	Psoas Muscle	Psoas
10	chr1:47077000-47081600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:47077000-47082000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:47077200-47081200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:47077200-47081600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:47077400-47081200	Enhancers	HMEC	breast
15	chr1:47077600-47081600	Enhancers	Fetal Heart	heart
16	chr1:47078000-47081000	Enhancers	Hela-S3	cervix
17	chr1:47078000-47081400	Weak transcription	HUVEC	blood vessel
18	chr1:47078400-47080400	Flanking Active TSS	GM12878-XiMat	blood
19	chr1:47078400-47080600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr1:47078400-47081600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr1:47078600-47080400	Enhancers	Ovary	ovary
22	chr1:47078600-47081000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr1:47078600-47081200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:47078800-47080400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:47078800-47080400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:47078800-47081200	Enhancers	Primary B cells from cord blood	blood
27	chr1:47078800-47081200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr1:47078800-47081200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:47078800-47081200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr1:47078800-47081400	Enhancers	Primary hematopoietic stem cells	blood
31	chr1:47078800-47081800	Enhancers	Spleen	Spleen
32	chr1:47079000-47080400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:47079000-47080400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:47079000-47080400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:47079000-47080400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr1:47079000-47080400	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr1:47079000-47080600	Enhancers	Brain Angular Gyrus	brain
38	chr1:47079000-47080800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:47079000-47081000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:47079000-47081000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr1:47079000-47081000	Enhancers	NHDF-Ad	bronchial
42	chr1:47079000-47081200	Enhancers	Aorta	Aorta
43	chr1:47079000-47081200	Enhancers	Liver	Liver
44	chr1:47079000-47081200	Enhancers	Fetal Lung	lung
45	chr1:47079000-47081400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:47079000-47081400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:47079000-47081400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr1:47079000-47081400	Enhancers	Gastric	stomach
49	chr1:47079000-47081400	Enhancers	Stomach Mucosa	stomach
50	chr1:47079000-47081600	Enhancers	Cortex derived primary cultured neurospheres	brain

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