Variant report

Variant	rs1935836
Chromosome Location	chr1:114309172-114309173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114308167..114310817-chr1:114354142..114357057,3	K562	blood:
2	chr1:114307352..114309278-chr1:114778332..114780545,2	MCF-7	breast:
3	chr1:114307794..114309970-chr1:114311148..114314125,2	MCF-7	breast:
4	chr1:114306321..114309666-chr1:114320430..114324834,4	MCF-7	breast:
5	chr1:114307008..114312126-chr1:114352475..114355930,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231128	Chromatin interaction
ENSG00000081019	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10776773	0.82[EUR][1000 genomes]
rs10858015	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11102667	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11102678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1146183	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1146184	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1146185	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12138638	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1217225	0.82[YRI][hapmap]
rs1217231	0.84[YRI][hapmap]
rs1217375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1217378	0.82[AFR][1000 genomes]
rs1217382	0.90[JPT][hapmap]
rs1217393	0.91[JPT][hapmap]
rs1217397	0.90[JPT][hapmap]
rs1217401	0.90[JPT][hapmap]
rs1217403	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1217406	0.95[YRI][hapmap]
rs1217408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1217414	0.90[JPT][hapmap];0.87[YRI][hapmap]
rs1217417	0.84[ASN][1000 genomes]
rs1217418	0.82[YRI][hapmap]
rs1217419	0.96[YRI][hapmap]
rs1217423	0.82[JPT][hapmap]
rs1230673	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1230681	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1230684	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1235000	0.83[CEU][hapmap];0.85[CHB][hapmap];0.83[YRI][hapmap]
rs13524	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1624335	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[YRI][hapmap]
rs1743594	0.91[CEU][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1746857	0.95[ASN][1000 genomes]
rs1746860	0.90[JPT][hapmap]
rs1970559	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2040041	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2185827	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2476599	0.81[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2476602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2476604	0.80[AFR][1000 genomes]
rs2636000	0.95[ASN][1000 genomes]
rs2636003	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3789597	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3789598	0.87[YRI][hapmap]
rs3789600	0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs6537798	0.87[YRI][hapmap]
rs7543121	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs971173	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS 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	96 gene(s)	inside rSNPs	diseases
2	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 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	chr1:114302400-114311800	Weak transcription	Small Intestine	intestine
2	chr1:114302600-114309400	Weak transcription	Esophagus	oesophagus
3	chr1:114302600-114318000	Weak transcription	Spleen	Spleen
4	chr1:114302600-114321800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:114302800-114309400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:114302800-114310200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:114302800-114310600	Weak transcription	NHEK	skin
8	chr1:114302800-114311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:114302800-114312200	Weak transcription	Stomach Mucosa	stomach
10	chr1:114302800-114315800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:114302800-114323200	Weak transcription	Aorta	Aorta
12	chr1:114302800-114323600	Weak transcription	Psoas Muscle	Psoas
13	chr1:114302800-114326000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:114302800-114326200	Weak transcription	Pancreas	Pancrea
15	chr1:114302800-114326200	Weak transcription	Right Ventricle	heart
16	chr1:114303000-114309400	Weak transcription	Fetal Lung	lung
17	chr1:114303000-114310400	Weak transcription	Hela-S3	cervix
18	chr1:114303000-114311200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:114303000-114315800	Weak transcription	Fetal Stomach	stomach
20	chr1:114303000-114318800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:114303000-114319000	Weak transcription	Fetal Brain Male	brain
22	chr1:114303000-114319000	Weak transcription	HSMMtube	muscle
23	chr1:114303000-114323200	Weak transcription	Fetal Heart	heart
24	chr1:114303000-114326200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:114303200-114309200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:114303200-114310200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:114303200-114310200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:114303200-114311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:114303200-114311800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:114303200-114317200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:114303200-114328400	Weak transcription	A549	lung
32	chr1:114303400-114353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:114304800-114310000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:114304800-114320600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:114306000-114310200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:114306000-114310600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:114306000-114311000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr1:114306000-114311200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:114306000-114311400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr1:114306200-114311000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr1:114306200-114311200	Strong transcription	Placenta	Placenta
42	chr1:114306200-114311400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:114306200-114312600	Strong transcription	Dnd41	blood
44	chr1:114306400-114311000	Strong transcription	Fetal Kidney	kidney
45	chr1:114306400-114311000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr1:114306800-114309200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:114307000-114309400	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:114307200-114309400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:114307200-114311400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr1:114307200-114314000	Strong transcription	Primary B cells from cord blood	blood

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