Variant report

Variant	rs73493007
Chromosome Location	chr13:49170309-49170310
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49169593..49170465-chr13:49305139..49306545,8	MCF-7	breast:
2	chr13:49169501..49170445-chr13:49342944..49343864,14	MCF-7	breast:
3	chr13:49169295..49170510-chr13:49305795..49306796,15	MCF-7	breast:
4	chr13:49169482..49170418-chr13:49342940..49343870,6	K562	blood:
5	chr13:49169339..49170769-chr13:49342414..49344167,53	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs4151632	0.83[AFR][1000 genomes]
rs57800689	1.00[AFR][1000 genomes]
rs60240141	1.00[AFR][1000 genomes]
rs73479211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479235	0.83[AFR][1000 genomes]
rs73479241	0.83[AFR][1000 genomes]
rs73479247	0.83[AFR][1000 genomes]
rs73479252	0.83[AFR][1000 genomes]
rs73486810	0.83[AFR][1000 genomes]
rs73486817	0.83[AFR][1000 genomes]
rs73486823	0.83[AFR][1000 genomes]
rs73486824	0.83[AFR][1000 genomes]
rs73491100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492996	0.83[AFR][1000 genomes]
rs73493010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493070	1.00[AFR][1000 genomes]
rs73493076	1.00[AFR][1000 genomes]
rs73495021	0.83[AFR][1000 genomes]
rs73495107	1.00[AFR][1000 genomes]
rs73495121	1.00[AMR][1000 genomes]
rs9332028	1.00[AMR][1000 genomes]

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	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49161400-49176400	Weak transcription	Right Ventricle	heart
2	chr13:49163800-49170800	Enhancers	Stomach Mucosa	stomach
3	chr13:49166200-49173800	Weak transcription	Fetal Kidney	kidney
4	chr13:49167400-49170400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:49167400-49170400	Enhancers	Placenta	Placenta
6	chr13:49168200-49174800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:49168400-49175000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr13:49168600-49170400	Enhancers	Fetal Intestine Small	intestine
9	chr13:49168800-49170400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr13:49169400-49170600	Enhancers	Hela-S3	cervix
11	chr13:49169600-49170400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr13:49169600-49170400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr13:49169600-49170400	Enhancers	Gastric	stomach
14	chr13:49169600-49170400	Enhancers	Left Ventricle	heart
15	chr13:49169600-49170400	Enhancers	Ovary	ovary
16	chr13:49169600-49170400	Enhancers	Pancreas	Pancrea
17	chr13:49169600-49170400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr13:49169600-49170400	Enhancers	Right Atrium	heart
19	chr13:49169600-49170600	Enhancers	Dnd41	blood
20	chr13:49169800-49172200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:49169800-49177800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:49170000-49174800	Weak transcription	HSMM	muscle
23	chr13:49170000-49176600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr13:49170200-49170400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:49170200-49170400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr13:49170200-49170400	Enhancers	Adipose Nuclei	Adipose

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