Variant report

Variant	rs7253354
Chromosome Location	chr19:42969806-42969807
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42957018..42958955-chr19:42966845..42969833,2	MCF-7	breast:
2	chr19:42968131..42971103-chr19:42973928..42976779,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10518265	1.00[EUR][1000 genomes]
rs16975748	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975813	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975848	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975958	1.00[EUR][1000 genomes]
rs1903724	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34044249	1.00[EUR][1000 genomes]
rs34097578	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34147019	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34366776	1.00[EUR][1000 genomes]
rs34381435	1.00[EUR][1000 genomes]
rs34637823	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34734442	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34760209	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34923099	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35002034	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35038065	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35135831	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35213872	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35266309	1.00[EUR][1000 genomes]
rs35312827	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35349390	1.00[EUR][1000 genomes]
rs35409716	0.89[AMR][1000 genomes]
rs35544765	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35855384	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35917849	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35969273	1.00[EUR][1000 genomes]
rs3745238	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4635443	1.00[EUR][1000 genomes]
rs55697425	1.00[EUR][1000 genomes]
rs56271304	1.00[EUR][1000 genomes]
rs56312460	1.00[EUR][1000 genomes]
rs57516100	1.00[EUR][1000 genomes]
rs58405647	1.00[EUR][1000 genomes]
rs58845793	1.00[EUR][1000 genomes]
rs59983776	1.00[EUR][1000 genomes]
rs60389892	1.00[EUR][1000 genomes]
rs60993923	1.00[EUR][1000 genomes]
rs61661961	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932713	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73932727	1.00[EUR][1000 genomes]
rs73932730	1.00[EUR][1000 genomes]
rs73932732	1.00[EUR][1000 genomes]
rs73932734	1.00[EUR][1000 genomes]
rs73932736	1.00[EUR][1000 genomes]
rs73932737	1.00[EUR][1000 genomes]
rs73932738	1.00[EUR][1000 genomes]
rs73932739	1.00[EUR][1000 genomes]
rs73932741	1.00[EUR][1000 genomes]
rs73932742	1.00[EUR][1000 genomes]
rs73932744	1.00[EUR][1000 genomes]
rs73932746	1.00[EUR][1000 genomes]
rs73932747	1.00[EUR][1000 genomes]
rs73932748	1.00[EUR][1000 genomes]
rs73932750	1.00[EUR][1000 genomes]
rs73932751	1.00[EUR][1000 genomes]
rs73932752	1.00[EUR][1000 genomes]
rs73932754	1.00[EUR][1000 genomes]
rs73932761	1.00[EUR][1000 genomes]
rs73932762	1.00[EUR][1000 genomes]
rs73936020	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936024	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936031	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936032	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8105476	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8109269	1.00[EUR][1000 genomes]
rs8110316	1.00[EUR][1000 genomes]

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	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42957400-42970600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr19:42960000-42970200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:42960200-42970000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:42960200-42975600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:42960400-42971000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:42960400-42974200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr19:42961000-42970200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr19:42961800-42970000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr19:42961800-42970000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:42961800-42970200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:42961800-42970200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr19:42961800-42970200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:42965200-42970200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr19:42965800-42972400	Enhancers	Primary B cells from peripheral blood	blood
15	chr19:42966400-42970000	Weak transcription	Left Ventricle	heart
16	chr19:42966600-42970000	Weak transcription	Adipose Nuclei	Adipose
17	chr19:42966600-42970000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr19:42966600-42970400	Weak transcription	Stomach Mucosa	stomach
19	chr19:42966800-42970200	Weak transcription	Right Atrium	heart
20	chr19:42967000-42970000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr19:42967000-42970200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:42967200-42970200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr19:42967200-42970400	Weak transcription	Fetal Intestine Large	intestine
24	chr19:42967200-42970800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr19:42967200-42972400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr19:42967200-42972400	Weak transcription	Esophagus	oesophagus
27	chr19:42967400-42970200	Weak transcription	Brain Anterior Caudate	brain
28	chr19:42967400-42970800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:42967400-42972400	Weak transcription	Fetal Intestine Small	intestine
30	chr19:42967600-42970200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr19:42967600-42970200	Weak transcription	Brain Angular Gyrus	brain
32	chr19:42967600-42970200	Weak transcription	Brain Hippocampus Middle	brain
33	chr19:42968200-42970200	Weak transcription	Brain Substantia Nigra	brain
34	chr19:42968200-42970200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr19:42968400-42970000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr19:42969000-42972200	Enhancers	Primary B cells from cord blood	blood
37	chr19:42969200-42971000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:42969400-42971400	Flanking Active TSS	GM12878-XiMat	blood
39	chr19:42969400-42972000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr19:42969400-42973000	Enhancers	HepG2	liver
41	chr19:42969400-42975200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr19:42969800-42971400	Enhancers	Duodenum Mucosa	Duodenum
43	chr19:42969800-42971800	Enhancers	Monocytes-CD14+_RO01746	blood

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