Variant report

Variant	rs4324019
Chromosome Location	chr13:40346372-40346373
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:40338587..40340138-chr13:40344634..40347298,2	MCF-7	breast:
2	chr13:40343415..40346498-chr13:40346695..40349589,3	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13378904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2324340	1.00[AMR][1000 genomes]
rs3000477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3000480	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3000484	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3000486	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3012138	1.00[AMR][1000 genomes]
rs3012148	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3012150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4268631	1.00[AMR][1000 genomes]
rs4318086	1.00[AMR][1000 genomes]
rs4326926	1.00[AMR][1000 genomes]
rs4383025	1.00[AMR][1000 genomes]
rs4488331	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4943690	1.00[AMR][1000 genomes]
rs6563741	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6563744	1.00[AMR][1000 genomes]
rs7319899	1.00[AMR][1000 genomes]
rs7333700	1.00[AMR][1000 genomes]
rs7336514	1.00[AMR][1000 genomes]
rs7490747	1.00[AMR][1000 genomes]
rs7991870	1.00[AFR][1000 genomes]
rs7996170	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9315727	1.00[AMR][1000 genomes]
rs9532415	1.00[AMR][1000 genomes]
rs9532418	1.00[AMR][1000 genomes]
rs9532421	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9548864	1.00[AMR][1000 genomes]
rs9594354	1.00[AMR][1000 genomes]
rs9603614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9805352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1054797	chr13:40198744-40618428	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv541755	chr13:40198744-40618428	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer 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	10 gene(s)	inside rSNPs	diseases
4	nsv832586	chr13:40222880-40379063	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1040458	chr13:40249387-40638129	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv471130	chr13:40261945-40350912	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	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	chr13:40311400-40347200	Weak transcription	HSMM	muscle
2	chr13:40312200-40351200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:40327400-40352200	Weak transcription	Primary T cells from cord blood	blood
4	chr13:40327800-40347400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:40340400-40347000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:40340400-40347800	Weak transcription	HUVEC	blood vessel
7	chr13:40340400-40353600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:40340400-40361200	Weak transcription	Pancreas	Pancrea
9	chr13:40340600-40351200	Weak transcription	Gastric	stomach
10	chr13:40340600-40351200	Weak transcription	Right Ventricle	heart
11	chr13:40341000-40346800	Weak transcription	Fetal Stomach	stomach
12	chr13:40341400-40350600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:40341800-40356600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr13:40342200-40348000	Weak transcription	Ovary	ovary
15	chr13:40342400-40350200	Weak transcription	HSMMtube	muscle
16	chr13:40342600-40347800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:40342600-40351200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:40342600-40360200	Weak transcription	Fetal Muscle Leg	muscle
19	chr13:40342800-40351200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr13:40343600-40349200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr13:40345200-40350400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:40345400-40354800	Weak transcription	Brain Anterior Caudate	brain
23	chr13:40345600-40347800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:40345800-40347400	Weak transcription	Aorta	Aorta

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