Variant report

Variant	rs17138041
Chromosome Location	chr5:114953344-114953345
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	POLR2A	chr5:114953241-114955938	K562	blood:	n/a	n/a
2	POLR2A	chr5:114953102-114953491	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114950483..114953448-chr5:115177527..115180006,2	K562	blood:
2	chr5:114930114..114932547-chr5:114952290..114954569,2	K562	blood:

Variant related genes	Relation type
TMED7-TICAM2	TF binding region
ENSG00000145782	Chromatin interaction
ENSG00000177879	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12109142	1.00[MEX][hapmap]
rs12110084	1.00[YRI][hapmap]
rs12110088	1.00[YRI][hapmap]
rs17137925	1.00[YRI][hapmap]
rs17137960	1.00[YRI][hapmap]
rs17138022	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs59620445	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114938200-114957200	Weak transcription	Small Intestine	intestine
2	chr5:114938200-114958200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:114938200-114960200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:114938600-114958000	Weak transcription	Ovary	ovary
5	chr5:114938600-114960000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:114938800-114953800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:114938800-114954000	Weak transcription	Fetal Brain Female	brain
8	chr5:114938800-114954200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:114938800-114954200	Weak transcription	Colonic Mucosa	Colon
10	chr5:114938800-114957400	Weak transcription	Aorta	Aorta
11	chr5:114938800-114958600	Weak transcription	Right Ventricle	heart
12	chr5:114938800-114960000	Weak transcription	Lung	lung
13	chr5:114939000-114955200	Weak transcription	Fetal Heart	heart
14	chr5:114939000-114957200	Weak transcription	Fetal Brain Male	brain
15	chr5:114939000-114957200	Weak transcription	Fetal Intestine Small	intestine
16	chr5:114939000-114957200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:114939000-114957400	Weak transcription	Pancreas	Pancrea
18	chr5:114939000-114958000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:114939000-114958000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:114939000-114958200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:114939000-114958800	Weak transcription	Fetal Stomach	stomach
22	chr5:114939000-114959200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:114939000-114960200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:114939200-114954000	Weak transcription	Brain Anterior Caudate	brain
25	chr5:114939200-114954200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:114939200-114954600	Weak transcription	Brain Substantia Nigra	brain
27	chr5:114939200-114957200	Weak transcription	Brain Angular Gyrus	brain
28	chr5:114939200-114958800	Weak transcription	Spleen	Spleen
29	chr5:114940400-114957200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:114941000-114959400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:114941400-114958000	Weak transcription	Fetal Muscle Leg	muscle
32	chr5:114944000-114954200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:114944000-114954800	Weak transcription	Psoas Muscle	Psoas
34	chr5:114944200-114953800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:114944200-114957200	Weak transcription	Gastric	stomach
36	chr5:114944600-114954000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr5:114944600-114954200	Weak transcription	Brain Hippocampus Middle	brain
38	chr5:114945400-114958600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:114945600-114956400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:114945800-114956800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:114945800-114958200	Strong transcription	Primary B cells from cord blood	blood
42	chr5:114946000-114956400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:114946000-114958200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr5:114946000-114959400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:114946200-114956000	Strong transcription	NH-A	brain
46	chr5:114946200-114956200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:114946200-114956400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:114946200-114957600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:114946200-114958000	Strong transcription	Dnd41	blood
50	chr5:114946200-114958200	Strong transcription	Monocytes-CD14+_RO01746	blood

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