Variant report

Variant	rs17139553
Chromosome Location	chr5:115697691-115697692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115692236..115694986-chr5:115697167..115699493,2	MCF-7	breast:
2	chr5:115693595..115697814-chr5:115698835..115703078,5	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17139645	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2763489	chr5:115693166-115733327	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2753353	chr5:115696118-115699265	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115684400-115705800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr5:115684800-115697800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:115685000-115721400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr5:115687200-115706400	Weak transcription	Liver	Liver
5	chr5:115694400-115707800	Weak transcription	Spleen	Spleen
6	chr5:115695200-115697800	Enhancers	Fetal Brain Male	brain
7	chr5:115695200-115698000	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr5:115695200-115700000	Weak transcription	K562	blood
9	chr5:115695800-115706600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:115695800-115714600	Weak transcription	Thymus	Thymus
11	chr5:115696000-115708000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:115696400-115697800	Weak transcription	Primary B cells from cord blood	blood
13	chr5:115696400-115707600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr5:115696400-115708400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:115696600-115698000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr5:115696600-115698000	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr5:115696800-115697800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:115696800-115697800	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr5:115696800-115697800	Active TSS	Colonic Mucosa	Colon
20	chr5:115696800-115697800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr5:115696800-115697800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr5:115696800-115697800	Enhancers	Stomach Mucosa	stomach
23	chr5:115696800-115698200	Enhancers	Fetal Heart	heart
24	chr5:115697000-115697800	Active TSS	H9 Cell Line	embryonic stem cell
25	chr5:115697000-115697800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr5:115697000-115697800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:115697000-115697800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr5:115697000-115697800	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr5:115697000-115697800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
30	chr5:115697000-115700600	Weak transcription	GM12878-XiMat	blood
31	chr5:115697200-115697800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr5:115697200-115697800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr5:115697400-115697800	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr5:115697400-115697800	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr5:115697400-115697800	Flanking Active TSS	NHEK	skin
36	chr5:115697400-115698000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:115697600-115697800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr5:115697600-115697800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
39	chr5:115697600-115697800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
40	chr5:115697600-115697800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr5:115697600-115697800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
42	chr5:115697600-115697800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:115697600-115697800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:115697600-115697800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:115697600-115697800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:115697600-115697800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr5:115697600-115697800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:115697600-115697800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:115697600-115697800	Active TSS	Brain Germinal Matrix	brain
50	chr5:115697600-115697800	Flanking Active TSS	Colon Smooth Muscle	Colon

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