Variant report

Variant	rs1392319
Chromosome Location	chr3:43059995-43059996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43059886..43061659-chr3:43065331..43067767,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10212191	0.84[YRI][hapmap]
rs10470680	1.00[ASN][1000 genomes]
rs12629332	1.00[CHB][hapmap]
rs1403525	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074894	1.00[ASN][1000 genomes]
rs1816227	1.00[ASN][1000 genomes]
rs28378297	1.00[ASN][1000 genomes]
rs28601753	1.00[ASN][1000 genomes]
rs28655956	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28673478	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3915020	1.00[ASN][1000 genomes]
rs489117	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs530842	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs534284	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs551658	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs604393	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs61004728	1.00[ASN][1000 genomes]
rs617014	1.00[ASN][1000 genomes]
rs62248962	1.00[ASN][1000 genomes]
rs62249006	1.00[ASN][1000 genomes]
rs62249007	1.00[ASN][1000 genomes]
rs62249008	1.00[ASN][1000 genomes]
rs62249009	1.00[ASN][1000 genomes]
rs62249011	1.00[ASN][1000 genomes]
rs62249013	1.00[ASN][1000 genomes]
rs62249014	1.00[ASN][1000 genomes]
rs62249016	1.00[ASN][1000 genomes]
rs62249584	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs651899	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6763762	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6773223	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6775999	1.00[ASN][1000 genomes]
rs678310	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6798412	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs680967	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs681341	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6865	1.00[ASN][1000 genomes]
rs73075297	1.00[ASN][1000 genomes]
rs73075301	1.00[ASN][1000 genomes]
rs73077208	1.00[ASN][1000 genomes]
rs73077214	1.00[ASN][1000 genomes]
rs73077238	1.00[ASN][1000 genomes]
rs735320	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73832423	1.00[ASN][1000 genomes]
rs73832424	1.00[ASN][1000 genomes]
rs7617715	1.00[ASN][1000 genomes]
rs7641452	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7643433	0.90[YRI][hapmap]
rs7644923	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9311330	1.00[ASN][1000 genomes]
rs9311331	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9311332	0.83[YRI][hapmap]
rs9808932	1.00[ASN][1000 genomes]
rs9815609	0.83[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9816391	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9824700	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9828785	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833284	1.00[ASN][1000 genomes]
rs9837761	1.00[ASN][1000 genomes]
rs9840349	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9852930	1.00[ASN][1000 genomes]
rs9858270	1.00[ASN][1000 genomes]
rs9862469	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9865715	1.00[CHB][hapmap]
rs9870478	0.82[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.88[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	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv460523	chr3:43025986-43063406	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv590150	chr3:43025986-43063406	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv432417	chr3:43045796-43098296	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43053200-43060600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:43053600-43073200	Weak transcription	Right Atrium	heart
3	chr3:43054600-43061600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:43058400-43061400	Weak transcription	Primary T cells from cord blood	blood
5	chr3:43058600-43061000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr3:43058800-43060200	Weak transcription	Thymus	Thymus
7	chr3:43058800-43060600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr3:43058800-43061000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:43058800-43061400	Weak transcription	Dnd41	blood
10	chr3:43059400-43060800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr3:43059400-43061200	Enhancers	Ovary	ovary
12	chr3:43059400-43062000	Weak transcription	Esophagus	oesophagus
13	chr3:43059600-43060200	Weak transcription	Fetal Thymus	thymus
14	chr3:43059600-43061000	Enhancers	Liver	Liver
15	chr3:43059600-43074400	Weak transcription	Lung	lung
16	chr3:43059600-43084600	Weak transcription	Pancreas	Pancrea
17	chr3:43059800-43061800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:43059800-43062000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:43059800-43062000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr3:43059800-43062000	Enhancers	Fetal Intestine Small	intestine
21	chr3:43059800-43063400	Enhancers	Fetal Intestine Large	intestine
22	chr3:43059800-43064200	Enhancers	Fetal Brain Male	brain
23	chr3:43059800-43064800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr3:43059800-43065200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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