Variant report

Variant	rs35340753
Chromosome Location	chr3:49931279-49931280
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2230592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28424211	0.89[AFR][1000 genomes]
rs56057035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56352827	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57347154	0.89[AFR][1000 genomes]
rs61156427	0.89[AFR][1000 genomes]
rs73831918	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73832783	0.89[AFR][1000 genomes]
rs73834119	0.89[AFR][1000 genomes]
rs73834125	0.89[AFR][1000 genomes]
rs73834127	0.89[AFR][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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49919600-49933400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:49919600-49933400	Weak transcription	Stomach Mucosa	stomach
3	chr3:49919600-49937800	Weak transcription	Small Intestine	intestine
4	chr3:49919800-49933800	Weak transcription	Brain Angular Gyrus	brain
5	chr3:49920000-49943000	Weak transcription	Brain Anterior Caudate	brain
6	chr3:49920200-49932600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:49920200-49932600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:49920200-49938400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr3:49920400-49938200	Weak transcription	Left Ventricle	heart
10	chr3:49920600-49938200	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:49920600-49938200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:49922600-49935400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:49924000-49936000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:49924000-49937600	Strong transcription	Fetal Stomach	stomach
15	chr3:49924200-49932600	Weak transcription	Pancreas	Pancrea
16	chr3:49924600-49937600	Weak transcription	K562	blood
17	chr3:49924800-49938200	Weak transcription	Right Ventricle	heart
18	chr3:49925200-49941200	Weak transcription	Brain Germinal Matrix	brain
19	chr3:49926600-49938400	Weak transcription	Aorta	Aorta
20	chr3:49926800-49932600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:49927000-49932600	Weak transcription	Spleen	Spleen
22	chr3:49927000-49938000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:49927400-49936800	Weak transcription	Fetal Thymus	thymus
24	chr3:49927400-49937600	Weak transcription	Placenta	Placenta
25	chr3:49927600-49940400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:49928200-49932000	Weak transcription	HMEC	breast
27	chr3:49928600-49943000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:49928800-49932400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:49929000-49931800	Weak transcription	Fetal Intestine Large	intestine
30	chr3:49929000-49933000	Weak transcription	Fetal Brain Female	brain
31	chr3:49929000-49938400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr3:49929400-49931800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr3:49929400-49931800	Weak transcription	Hela-S3	cervix
34	chr3:49929400-49932000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:49929400-49932600	Weak transcription	Colonic Mucosa	Colon
36	chr3:49929400-49932600	Weak transcription	Esophagus	oesophagus
37	chr3:49929400-49932600	Weak transcription	Lung	lung
38	chr3:49929600-49931800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr3:49929600-49941200	Weak transcription	Ovary	ovary
40	chr3:49929800-49932000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr3:49930000-49931400	Weak transcription	Gastric	stomach
42	chr3:49930000-49932400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr3:49930400-49932400	Weak transcription	Fetal Intestine Small	intestine
44	chr3:49930800-49935800	Strong transcription	NHEK	skin

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