Variant report

Variant	rs17697972
Chromosome Location	chr10:49607992-49607993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr10:49607934-49608535	SK-N-SH	brain:	n/a	n/a
2	ZNF263	chr10:49607361-49608750	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:49606526..49608570-chr10:49613163..49615264,2	K562	blood:
2	chr10:49605353..49609385-chr10:49612341..49615386,5	K562	blood:
3	chr10:49605751..49608098-chr10:49638652..49640614,2	K562	blood:
4	chr10:49514733..49517675-chr10:49606696..49609603,2	K562	blood:
5	chr10:49514542..49516292-chr10:49606736..49609603,3	K562	blood:

No data

Variant related genes	Relation type
MAPK8	TF binding region
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs17010208	0.92[EUR][1000 genomes]
rs17010407	1.00[EUR][1000 genomes]
rs17010430	1.00[EUR][1000 genomes]
rs17010447	1.00[EUR][1000 genomes]
rs17010454	1.00[EUR][1000 genomes]
rs17010455	1.00[EUR][1000 genomes]
rs17010496	0.84[EUR][1000 genomes]
rs1867586	0.92[EUR][1000 genomes]
rs3730160	1.00[EUR][1000 genomes]
rs3855904	0.88[EUR][1000 genomes]
rs57508520	1.00[EUR][1000 genomes]
rs58676018	1.00[EUR][1000 genomes]
rs60992548	1.00[EUR][1000 genomes]
rs61838668	1.00[EUR][1000 genomes]
rs61838669	0.96[EUR][1000 genomes]
rs61838672	1.00[EUR][1000 genomes]
rs61838673	1.00[EUR][1000 genomes]
rs61838677	1.00[EUR][1000 genomes]
rs61838697	1.00[EUR][1000 genomes]
rs61838698	1.00[EUR][1000 genomes]
rs61838700	1.00[EUR][1000 genomes]
rs61838701	1.00[EUR][1000 genomes]
rs61838703	0.96[EUR][1000 genomes]
rs61838704	1.00[EUR][1000 genomes]
rs61838707	0.92[EUR][1000 genomes]
rs61838708	0.88[EUR][1000 genomes]
rs61838722	0.84[EUR][1000 genomes]
rs61838723	0.84[EUR][1000 genomes]
rs61838724	0.80[EUR][1000 genomes]
rs61838726	0.84[EUR][1000 genomes]
rs61838728	0.84[EUR][1000 genomes]
rs61838730	0.84[EUR][1000 genomes]
rs61838731	0.84[EUR][1000 genomes]
rs61838735	0.84[EUR][1000 genomes]
rs61840548	0.92[EUR][1000 genomes]
rs61840549	0.92[EUR][1000 genomes]
rs61840550	0.92[EUR][1000 genomes]
rs61840556	0.88[EUR][1000 genomes]
rs61840558	1.00[EUR][1000 genomes]
rs7089077	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1039508	chr10:49595718-49654403	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49595000-49616000	Weak transcription	Primary B cells from cord blood	blood
2	chr10:49598600-49619800	Weak transcription	Fetal Intestine Small	intestine
3	chr10:49598800-49612800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr10:49599200-49608200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr10:49599200-49622200	Weak transcription	HepG2	liver
6	chr10:49599800-49618000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr10:49600000-49612400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr10:49600000-49613400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr10:49600000-49613600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr10:49600000-49618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr10:49600200-49612400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr10:49600200-49617400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr10:49600200-49618200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr10:49600400-49608000	Weak transcription	Small Intestine	intestine
15	chr10:49600400-49616800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr10:49600400-49620200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr10:49601200-49613800	Weak transcription	Primary T cells from cord blood	blood
18	chr10:49604200-49608200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr10:49604200-49609200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:49605200-49618000	Weak transcription	Fetal Muscle Leg	muscle
21	chr10:49606000-49608200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:49606000-49609000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:49606200-49608200	Enhancers	Colon Smooth Muscle	Colon
24	chr10:49606200-49608800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr10:49606200-49609200	Enhancers	Brain Anterior Caudate	brain
26	chr10:49606200-49609200	Enhancers	HSMMtube	muscle
27	chr10:49606200-49609400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr10:49606200-49609400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:49606200-49609800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr10:49606200-49609800	Enhancers	Brain Angular Gyrus	brain
31	chr10:49606400-49608000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr10:49606400-49608000	Enhancers	Brain Germinal Matrix	brain
33	chr10:49606400-49608200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr10:49606400-49609200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:49606400-49609200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr10:49606400-49609200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr10:49606400-49609200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr10:49606400-49609200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr10:49606400-49609200	Enhancers	K562	blood
40	chr10:49606600-49608200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr10:49606600-49609200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr10:49606600-49609400	Enhancers	Fetal Brain Male	brain
43	chr10:49606800-49608000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr10:49606800-49608200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:49606800-49609000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr10:49606800-49609200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr10:49606800-49609200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr10:49606800-49609200	Enhancers	Adipose Nuclei	Adipose
49	chr10:49606800-49609800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr10:49606800-49619800	Weak transcription	Fetal Stomach	stomach

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