Variant report

Variant	rs697433
Chromosome Location	chr19:38426435-38426436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38393450..38400778-chr19:38419865..38427350,17	MCF-7	breast:
2	chr19:38424879..38427033-chr19:38465266..38467452,2	MCF-7	breast:
3	chr19:38423743..38426556-chr19:38482738..38484356,2	MCF-7	breast:
4	chr19:38426351..38429541-chr19:38429679..38432396,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105738	Chromatin interaction
ENSG00000171804	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10422056	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11083438	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11083439	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11665877	0.84[AMR][1000 genomes]
rs11668384	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11668434	0.84[AMR][1000 genomes]
rs12462485	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12610891	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12972712	0.84[AMR][1000 genomes]
rs12981237	0.84[AMR][1000 genomes]
rs1632177	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1643464	0.82[EUR][1000 genomes]
rs1643465	0.81[EUR][1000 genomes]
rs1643470	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1643472	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1725468	0.82[EUR][1000 genomes]
rs1725490	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17306508	0.84[AMR][1000 genomes]
rs17306795	0.90[CHB][hapmap]
rs241937	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs241940	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs241941	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs241942	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs241943	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs241944	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs241946	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs241948	1.00[CHB][hapmap]
rs241951	0.89[CHB][hapmap]
rs241957	0.81[AMR][1000 genomes]
rs241959	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs241960	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34607899	0.84[AMR][1000 genomes]
rs35015599	0.84[AMR][1000 genomes]
rs35214625	0.84[AMR][1000 genomes]
rs353405	0.94[EUR][1000 genomes]
rs353406	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs353409	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs353412	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs353413	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36020184	0.84[AMR][1000 genomes]
rs36092052	0.84[AMR][1000 genomes]
rs3752365	1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs3894129	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4482404	0.84[AMR][1000 genomes]
rs4802134	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4803536	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4803566	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6508748	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6508752	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7250668	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7254828	1.00[CHB][hapmap]
rs7255551	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8102871	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8103882	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8105694	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8110417	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8111400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs833915	0.82[EUR][1000 genomes]
rs833916	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs856302	1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs856309	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs861308	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.82[EUR][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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1064401	chr19:38387797-38427984	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1061106	chr19:38400149-38448723	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv544001	chr19:38400149-38448723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1820125	chr19:38424904-38427984	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38398800-38433800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:38399600-38441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:38423000-38438200	Weak transcription	Brain Angular Gyrus	brain
4	chr19:38423200-38426600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr19:38423200-38443000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:38423400-38427600	Enhancers	Liver	Liver
7	chr19:38423400-38433800	Weak transcription	Thymus	Thymus
8	chr19:38423600-38444400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:38424400-38426800	Weak transcription	Fetal Brain Female	brain
10	chr19:38424400-38427000	Enhancers	Gastric	stomach
11	chr19:38424400-38428000	Genic enhancers	Primary B cells from peripheral blood	blood
12	chr19:38424600-38429600	ZNF genes & repeats	GM12878-XiMat	blood
13	chr19:38424600-38438800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:38424600-38439200	Weak transcription	Spleen	Spleen
15	chr19:38424800-38427200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr19:38424800-38428000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:38424800-38444000	Weak transcription	NHDF-Ad	bronchial
18	chr19:38425000-38426600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr19:38425000-38429000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:38425000-38431200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:38425000-38431600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:38425000-38432200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:38425000-38438400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr19:38425000-38441000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:38425000-38454000	Weak transcription	HSMMtube	muscle
26	chr19:38425200-38436000	Enhancers	Stomach Mucosa	stomach
27	chr19:38425400-38426600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr19:38425400-38427800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr19:38425400-38430200	ZNF genes & repeats	A549	lung
30	chr19:38425600-38426800	ZNF genes & repeats	Brain Anterior Caudate	brain
31	chr19:38425800-38427000	ZNF genes & repeats	Fetal Muscle Leg	muscle
32	chr19:38425800-38429600	Enhancers	Fetal Intestine Large	intestine
33	chr19:38425800-38430600	Weak transcription	Small Intestine	intestine
34	chr19:38426000-38426600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
35	chr19:38426000-38426600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:38426000-38426600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:38426000-38426600	ZNF genes & repeats	Primary B cells from cord blood	blood
38	chr19:38426000-38426600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:38426000-38426600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:38426000-38426600	ZNF genes & repeats	HepG2	liver
41	chr19:38426000-38426800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
42	chr19:38426000-38426800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:38426000-38426800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr19:38426000-38426800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
45	chr19:38426000-38426800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:38426000-38426800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
47	chr19:38426000-38426800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr19:38426000-38427000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr19:38426000-38427000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:38426000-38427000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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