Variant report

Variant	rs17157321
Chromosome Location	chr10:45481492-45481493
allele	C/G
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	chr10:45480742-45481530	HepG2	liver:	n/a	n/a
2	GATA1	chr10:45480758-45481575	K562	blood:	n/a	n/a
3	POLR2A	chr10:45479489-45482043	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:45479279..45482173-chr10:45482944..45485602,3	K562	blood:
2	chr10:45430664..45432254-chr10:45480745..45483576,2	MCF-7	breast:
3	chr10:45469560..45475620-chr10:45475961..45481693,7	MCF-7	breast:

Variant related genes	Relation type
RASSF4	TF binding region
ENSG00000165507	Chromatin interaction
ENSG00000107551	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11239300	0.95[AFR][1000 genomes]
rs12251910	0.95[AFR][1000 genomes]
rs58731194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7068974	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7089925	1.00[EUR][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	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv526734	chr10:45458485-45492054	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45474400-45484000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr10:45474400-45490800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr10:45474400-45490800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr10:45474600-45483000	Enhancers	Ovary	ovary
5	chr10:45474800-45482400	Enhancers	Fetal Heart	heart
6	chr10:45474800-45490200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr10:45475000-45485000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:45476200-45484600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:45476600-45483800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr10:45476800-45484600	Weak transcription	Fetal Thymus	thymus
11	chr10:45476800-45487400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:45476800-45491400	Weak transcription	Fetal Kidney	kidney
13	chr10:45477200-45481600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr10:45477200-45482000	Genic enhancers	Fetal Muscle Leg	muscle
15	chr10:45477200-45482600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr10:45477400-45487400	Weak transcription	Fetal Intestine Large	intestine
17	chr10:45477600-45481800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr10:45477800-45481800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr10:45477800-45481800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr10:45477800-45488200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr10:45477800-45489400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr10:45478000-45481600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:45478000-45482200	Strong transcription	Brain Substantia Nigra	brain
24	chr10:45478000-45482200	Genic enhancers	Stomach Smooth Muscle	stomach
25	chr10:45478000-45486400	Weak transcription	Colonic Mucosa	Colon
26	chr10:45478200-45487600	Weak transcription	Psoas Muscle	Psoas
27	chr10:45478400-45486600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr10:45478400-45489000	Weak transcription	NHDF-Ad	bronchial
29	chr10:45478600-45482000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:45478800-45482000	Enhancers	Right Atrium	heart
31	chr10:45478800-45482000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
32	chr10:45478800-45489200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr10:45478800-45495800	Weak transcription	HMEC	breast
34	chr10:45479000-45482000	Genic enhancers	Left Ventricle	heart
35	chr10:45479000-45482200	Strong transcription	Fetal Brain Female	brain
36	chr10:45479600-45481600	Strong transcription	Brain Germinal Matrix	brain
37	chr10:45479600-45481800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:45479600-45482000	Genic enhancers	HSMMtube	muscle
39	chr10:45479600-45482200	Strong transcription	GM12878-XiMat	blood
40	chr10:45479800-45485800	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr10:45480200-45481800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr10:45480200-45482000	Enhancers	HUVEC	blood vessel
43	chr10:45480200-45482200	Enhancers	Fetal Lung	lung
44	chr10:45480400-45481600	Genic enhancers	HepG2	liver
45	chr10:45480400-45481600	Enhancers	NHLF	lung
46	chr10:45480400-45482200	Enhancers	NH-A	brain
47	chr10:45480400-45482600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr10:45480400-45482800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:45480400-45483000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr10:45480600-45482400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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