Variant report

Variant	rs7519865
Chromosome Location	chr1:211748118-211748119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211747427..211749600-chr1:211810215..211812897,2	K562	blood:
2	chr1:211745327..211748451-chr1:211846943..211849410,3	K562	blood:
3	chr1:211686187..211688121-chr1:211747912..211750697,2	K562	blood:
4	chr1:211697121..211699374-chr1:211746833..211748555,2	K562	blood:
5	chr1:211746810..211749692-chr1:211783974..211785917,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231057	Chromatin interaction
ENSG00000117650	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11119772	0.92[JPT][hapmap]
rs11553543	0.83[AFR][1000 genomes]
rs12091351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12562288	1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs17017739	0.91[JPT][hapmap]
rs17017761	0.97[AFR][1000 genomes]
rs17017782	0.92[JPT][hapmap]
rs17838268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278652	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3738198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61336072	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61632665	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6676167	0.80[ASN][1000 genomes]
rs73073202	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73075103	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73075106	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73075108	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73075115	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73075131	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7515127	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7530862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7531277	0.99[AFR][1000 genomes]
rs7543376	0.92[JPT][hapmap]

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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1836726	chr1:211736470-211752981	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211738800-211748200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:211742200-211748800	Weak transcription	HSMMtube	muscle
3	chr1:211742400-211748600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:211743200-211748400	Weak transcription	Fetal Lung	lung
5	chr1:211743800-211748600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:211743800-211748800	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:211744400-211748600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:211744600-211748400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:211744600-211748400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:211744600-211748600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:211744600-211748600	Weak transcription	Primary T cells from cord blood	blood
12	chr1:211744600-211749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:211744800-211748600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:211745000-211749000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:211745000-211749600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:211745200-211748600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:211745400-211748400	Strong transcription	NHDF-Ad	bronchial
18	chr1:211745400-211748600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:211745400-211748600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:211745800-211748200	Strong transcription	HSMM	muscle
21	chr1:211745800-211748600	Genic enhancers	Hela-S3	cervix
22	chr1:211745800-211749800	Weak transcription	Colonic Mucosa	Colon
23	chr1:211745800-211750800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:211746000-211748600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:211746000-211748600	Enhancers	HepG2	liver
26	chr1:211746000-211748600	Genic enhancers	Monocytes-CD14+_RO01746	blood
27	chr1:211746000-211749000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:211746000-211749400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:211746200-211748400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:211746200-211749200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:211746400-211748800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:211746400-211749600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:211746600-211748600	Weak transcription	Brain Anterior Caudate	brain
34	chr1:211746600-211749200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:211746600-211749400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:211746600-211749600	Transcr. at gene 5' and 3'	Liver	Liver
37	chr1:211746800-211748400	Genic enhancers	A549	lung
38	chr1:211746800-211748600	Active TSS	GM12878-XiMat	blood
39	chr1:211746800-211749000	Weak transcription	Brain Angular Gyrus	brain
40	chr1:211746800-211749200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr1:211747000-211748200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr1:211747000-211748200	Weak transcription	Stomach Mucosa	stomach
43	chr1:211747000-211748600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:211747000-211748800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:211747000-211749400	Weak transcription	Fetal Brain Female	brain
46	chr1:211747000-211749600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr1:211747000-211749800	Weak transcription	Brain Germinal Matrix	brain
48	chr1:211747000-211750600	Weak transcription	Psoas Muscle	Psoas
49	chr1:211747200-211748600	Genic enhancers	Duodenum Mucosa	Duodenum
50	chr1:211747200-211748600	Strong transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links