Variant report

Variant	rs73834118
Chromosome Location	chr3:49924078-49924079
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49918643..49920553-chr3:49922837..49925319,3	MCF-7	breast:
2	chr3:49918459..49920341-chr3:49922556..49924105,2	K562	blood:
3	chr3:49908717..49910264-chr3:49922246..49924394,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12107362	1.00[AMR][1000 genomes]
rs12107386	1.00[AMR][1000 genomes]
rs17050905	1.00[AMR][1000 genomes]
rs17050921	1.00[AMR][1000 genomes]
rs17050924	1.00[AMR][1000 genomes]
rs28424211	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55750059	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55913179	1.00[AMR][1000 genomes]
rs56263643	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56297242	1.00[AMR][1000 genomes]
rs57347154	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58095278	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58363428	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58688714	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59822920	1.00[AMR][1000 genomes]
rs60065407	1.00[AMR][1000 genomes]
rs60234882	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60844685	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61156427	0.83[AFR][1000 genomes]
rs61435065	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73832783	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73832789	1.00[AMR][1000 genomes]
rs73832800	1.00[AMR][1000 genomes]
rs73832801	1.00[AMR][1000 genomes]
rs73834119	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73834120	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73834125	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73834127	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73835208	1.00[AMR][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	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1809827	chr3:49812331-49934179	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49918800-49928400	Weak transcription	Colonic Mucosa	Colon
2	chr3:49919000-49924200	Weak transcription	Hela-S3	cervix
3	chr3:49919400-49924200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:49919400-49928600	Weak transcription	Esophagus	oesophagus
5	chr3:49919600-49926400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:49919600-49933400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:49919600-49933400	Weak transcription	Stomach Mucosa	stomach
8	chr3:49919600-49937800	Weak transcription	Small Intestine	intestine
9	chr3:49919800-49926600	Weak transcription	Spleen	Spleen
10	chr3:49919800-49933800	Weak transcription	Brain Angular Gyrus	brain
11	chr3:49920000-49926200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:49920000-49930200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:49920000-49943000	Weak transcription	Brain Anterior Caudate	brain
14	chr3:49920200-49924200	Weak transcription	Right Atrium	heart
15	chr3:49920200-49932600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:49920200-49932600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr3:49920200-49938400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:49920400-49938200	Weak transcription	Left Ventricle	heart
19	chr3:49920600-49938200	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:49920600-49938200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr3:49921800-49924200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:49921800-49926800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:49921800-49928600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:49922600-49935400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:49922800-49924600	Weak transcription	HMEC	breast
26	chr3:49923800-49925000	Enhancers	Fetal Intestine Large	intestine
27	chr3:49924000-49924200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:49924000-49924200	Active TSS	Pancreas	Pancrea
29	chr3:49924000-49924200	Flanking Active TSS	HepG2	liver
30	chr3:49924000-49924400	Enhancers	Fetal Brain Female	brain
31	chr3:49924000-49924600	Enhancers	K562	blood
32	chr3:49924000-49924800	Enhancers	Right Ventricle	heart
33	chr3:49924000-49925000	Genic enhancers	Fetal Intestine Small	intestine
34	chr3:49924000-49925200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr3:49924000-49925200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr3:49924000-49929400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr3:49924000-49929400	Strong transcription	Lung	lung
38	chr3:49924000-49930000	Strong transcription	Gastric	stomach
39	chr3:49924000-49930200	Strong transcription	NHEK	skin
40	chr3:49924000-49936000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:49924000-49937600	Strong transcription	Fetal Stomach	stomach

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