Variant report

Variant	rs10919074
Chromosome Location	chr1:169103954-169103955
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169098857..169100595-chr1:169101188..169104374,3	MCF-7	breast:
2	chr1:169074264..169079348-chr1:169101298..169105278,6	MCF-7	breast:
3	chr1:169099109..169101213-chr1:169102148..169104233,2	MCF-7	breast:
4	chr1:169096516..169099051-chr1:169103916..169105981,2	K562	blood:
5	chr1:168605193..168606024-chr1:169103173..169104078,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1018832	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10458388	0.86[AMR][1000 genomes]
rs10458394	0.86[AMR][1000 genomes]
rs10489417	0.83[AMR][1000 genomes]
rs10919062	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10919070	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919071	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919085	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10919087	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10919093	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12021696	0.86[AMR][1000 genomes]
rs12025566	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12028197	0.86[AMR][1000 genomes]
rs12029857	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12035622	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12048188	0.83[AMR][1000 genomes]
rs12401966	0.83[AMR][1000 genomes]
rs12403181	0.83[AMR][1000 genomes]
rs12406341	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408636	0.86[AMR][1000 genomes]
rs12410241	0.86[AMR][1000 genomes]
rs12410387	0.83[AMR][1000 genomes]
rs12410456	0.83[AMR][1000 genomes]
rs12410548	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12568473	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17345156	0.82[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2000321	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2001155	0.83[AMR][1000 genomes]
rs2001156	0.83[AMR][1000 genomes]
rs2143290	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34323371	0.83[AMR][1000 genomes]
rs3766074	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72706963	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72706975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10919074	ATP1B1	cis	Brain Pons	GTEx
rs10919074	NME7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169079800-169105800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:169091200-169124600	Weak transcription	NHLF	lung
3	chr1:169091600-169110000	Weak transcription	Spleen	Spleen
4	chr1:169091600-169120400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:169091600-169120600	Weak transcription	Lung	lung
6	chr1:169091800-169104200	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr1:169091800-169137600	Weak transcription	Esophagus	oesophagus
8	chr1:169092400-169106200	Weak transcription	Gastric	stomach
9	chr1:169094600-169104000	Genic enhancers	Brain Hippocampus Middle	brain
10	chr1:169095000-169112600	Weak transcription	Stomach Mucosa	stomach
11	chr1:169095800-169106200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:169096600-169137400	Weak transcription	Fetal Stomach	stomach
13	chr1:169096800-169108600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:169097000-169130000	Weak transcription	Ovary	ovary
15	chr1:169097600-169108200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:169098200-169105000	Weak transcription	Right Ventricle	heart
17	chr1:169098800-169112200	Weak transcription	HSMM	muscle
18	chr1:169099000-169105000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:169099400-169110400	Weak transcription	Osteobl	bone
20	chr1:169099400-169111200	Weak transcription	Aorta	Aorta
21	chr1:169099400-169112000	Weak transcription	Psoas Muscle	Psoas
22	chr1:169100000-169108600	Weak transcription	Fetal Intestine Small	intestine
23	chr1:169100800-169104600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:169100800-169115000	Weak transcription	Small Intestine	intestine
25	chr1:169100800-169116200	Weak transcription	Fetal Kidney	kidney
26	chr1:169100800-169141400	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:169101000-169105400	Weak transcription	Colonic Mucosa	Colon
28	chr1:169101000-169113800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:169101000-169137000	Weak transcription	Primary T cells from cord blood	blood
30	chr1:169101200-169104400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:169101200-169104800	Weak transcription	Fetal Brain Female	brain
32	chr1:169101200-169108600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:169101200-169113800	Weak transcription	Brain Germinal Matrix	brain
34	chr1:169101400-169105800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:169101600-169104200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:169101600-169104800	Weak transcription	Dnd41	blood
37	chr1:169102000-169104000	Genic enhancers	A549	lung
38	chr1:169102000-169105200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:169102000-169106000	Weak transcription	HUVEC	blood vessel
40	chr1:169102000-169117400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:169102200-169105000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:169102200-169105000	Enhancers	Brain Anterior Caudate	brain
43	chr1:169102200-169108200	Weak transcription	HepG2	liver
44	chr1:169102400-169120600	Weak transcription	Left Ventricle	heart
45	chr1:169102600-169105000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:169102800-169105200	Weak transcription	Hela-S3	cervix
47	chr1:169102800-169106800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:169102800-169107600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:169102800-169107800	Weak transcription	GM12878-XiMat	blood
50	chr1:169102800-169112600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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