Variant report

Variant	rs17398392
Chromosome Location	chr2:48943141-48943142
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48938808..48941243-chr2:48942125..48945142,3	K562	blood:

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

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

rs_ID	r²[population]
rs17398294	1.00[MEX][hapmap]

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	nsv1010494	chr2:48767055-49027310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv833992	chr2:48814223-48998037	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv817851	chr2:48941428-48973127	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48921600-48949600	Weak transcription	Ovary	ovary
2	chr2:48938000-48944400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:48940400-48943400	Enhancers	Colon Smooth Muscle	Colon
4	chr2:48940400-48943400	Enhancers	Fetal Stomach	stomach
5	chr2:48940600-48943400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:48940600-48943400	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr2:48940600-48943400	Enhancers	Fetal Muscle Leg	muscle
8	chr2:48940600-48945600	Enhancers	Fetal Lung	lung
9	chr2:48940800-48943400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:48941000-48943400	Enhancers	NHLF	lung
11	chr2:48941000-48943600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:48941000-48944800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:48941000-48945000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:48941000-48946400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:48941200-48943400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:48941200-48944400	Enhancers	Stomach Smooth Muscle	stomach
17	chr2:48941200-48944800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:48941400-48943200	Enhancers	Osteobl	bone
19	chr2:48941600-48943200	Enhancers	K562	blood
20	chr2:48941600-48945600	Weak transcription	Lung	lung
21	chr2:48942000-48943200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:48942000-48943200	Enhancers	Adipose Nuclei	Adipose
23	chr2:48942000-48943200	Enhancers	Fetal Thymus	thymus
24	chr2:48942000-48943200	Enhancers	Right Ventricle	heart
25	chr2:48942000-48943400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr2:48942000-48943400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:48942200-48943200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:48942200-48943200	Enhancers	Fetal Kidney	kidney
29	chr2:48942200-48943400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:48942200-48943600	Enhancers	NH-A	brain
31	chr2:48942600-48943200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:48942600-48943200	Enhancers	Fetal Intestine Large	intestine
33	chr2:48942600-48943200	Enhancers	Left Ventricle	heart
34	chr2:48942600-48943200	Enhancers	NHEK	skin
35	chr2:48942600-48943400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:48942600-48943400	Enhancers	Fetal Heart	heart
37	chr2:48942800-48945000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:48942800-48946400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:48942800-48949200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:48943000-48943400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr2:48943000-48944200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:48943000-48945000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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