Variant report

Variant	rs13078735
Chromosome Location	chr3:49933274-49933275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr3:49933215-49933302	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000230698	TF binding region
MST1R	TF binding region

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

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

rs_ID	r²[population]
rs12486358	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs13071187	1.00[MEX][hapmap]
rs13072748	1.00[CHB][hapmap]
rs13083045	1.00[LWK][hapmap]
rs2230591	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs2230593	1.00[CHB][hapmap]
rs34127462	1.00[MEX][hapmap]
rs34462841	1.00[MEX][hapmap]
rs34964130	1.00[LWK][hapmap]
rs7356069	1.00[LWK][hapmap]
rs7433231	1.00[CHB][hapmap];1.00[MEX][hapmap]

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:47 , 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	chr3:49920200-49938400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:49920400-49938200	Weak transcription	Left Ventricle	heart
8	chr3:49920600-49938200	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:49920600-49938200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:49922600-49935400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:49924000-49936000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:49924000-49937600	Strong transcription	Fetal Stomach	stomach
13	chr3:49924600-49937600	Weak transcription	K562	blood
14	chr3:49924800-49938200	Weak transcription	Right Ventricle	heart
15	chr3:49925200-49941200	Weak transcription	Brain Germinal Matrix	brain
16	chr3:49926600-49938400	Weak transcription	Aorta	Aorta
17	chr3:49927000-49938000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:49927400-49936800	Weak transcription	Fetal Thymus	thymus
19	chr3:49927400-49937600	Weak transcription	Placenta	Placenta
20	chr3:49927600-49940400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:49928600-49943000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:49929000-49938400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr3:49929600-49941200	Weak transcription	Ovary	ovary
24	chr3:49930800-49935800	Strong transcription	NHEK	skin
25	chr3:49931400-49936200	Strong transcription	Gastric	stomach
26	chr3:49931400-49938400	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:49931400-49943600	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:49931800-49935800	Strong transcription	Hela-S3	cervix
29	chr3:49931800-49936400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr3:49931800-49936400	Strong transcription	Fetal Intestine Large	intestine
31	chr3:49931800-49936400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr3:49932000-49935600	Strong transcription	HMEC	breast
33	chr3:49932000-49935800	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr3:49932000-49936000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:49932400-49936400	Strong transcription	Fetal Intestine Small	intestine
36	chr3:49932400-49936400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:49932600-49934600	Strong transcription	Pancreas	Pancrea
38	chr3:49932600-49935400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr3:49932600-49935400	Strong transcription	Spleen	Spleen
40	chr3:49932600-49935800	Strong transcription	Rectal Smooth Muscle	rectum
41	chr3:49932600-49936000	Strong transcription	Esophagus	oesophagus
42	chr3:49932600-49936000	Strong transcription	Lung	lung
43	chr3:49932600-49936200	Strong transcription	Colonic Mucosa	Colon
44	chr3:49933000-49933400	Strong transcription	Fetal Brain Female	brain
45	chr3:49933000-49933800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:49933200-49933600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr3:49933200-49938200	Weak transcription	Adipose Nuclei	Adipose

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