Variant report

Variant	rs17010433
Chromosome Location	chr10:49598947-49598948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49513543..49515966-chr10:49598483..49600970,2	K562	blood:
2	chr10:49597669..49599901-chr10:49599925..49601637,2	K562	blood:
3	chr10:49590873..49596805-chr10:49597234..49602162,8	K562	blood:
4	chr10:49597870..49600573-chr10:49685383..49687773,2	K562	blood:
5	chr10:49597219..49599872-chr10:49602103..49604352,2	K562	blood:
6	chr10:49598612..49601205-chr10:49623829..49626212,2	K562	blood:

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10508902	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap]
rs10745265	0.85[YRI][hapmap]
rs10776601	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[TSI][hapmap]
rs11101311	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259267	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.97[LWK][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs17697960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17697978	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[ASN][1000 genomes]
rs17698002	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[ASN][1000 genomes]
rs17698086	1.00[CHB][hapmap]
rs17770456	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17770535	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17770554	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1867585	0.83[EUR][1000 genomes]
rs1978997	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1997365	0.89[ASW][hapmap];0.84[LWK][hapmap];0.82[YRI][hapmap]
rs35009243	1.00[ASN][1000 genomes]
rs3730156	1.00[ASN][1000 genomes]
rs3730157	0.98[EUR][1000 genomes]
rs3730161	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap]
rs4354648	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57115982	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57990560	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838674	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838676	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838695	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838696	0.98[EUR][1000 genomes]
rs61838706	0.96[EUR][1000 genomes]
rs61840551	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61840552	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61840553	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61840555	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6537559	0.83[ASW][hapmap]
rs724124	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7478030	0.85[AMR][1000 genomes];0.94[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17010433	FRMPD2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49587600-49599600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:49590200-49599600	Weak transcription	Pancreas	Pancrea
3	chr10:49590400-49599000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr10:49591400-49599600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:49591800-49599000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr10:49593000-49599000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr10:49593200-49599000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr10:49593200-49607600	Weak transcription	Fetal Lung	lung
9	chr10:49593400-49599000	Weak transcription	HSMM	muscle
10	chr10:49595000-49599400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr10:49595000-49616000	Weak transcription	Primary B cells from cord blood	blood
12	chr10:49596400-49599600	Enhancers	Fetal Intestine Large	intestine
13	chr10:49596400-49599800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr10:49596400-49600000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr10:49596600-49601200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr10:49596800-49600000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr10:49596800-49600000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr10:49596800-49600200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr10:49596800-49600400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr10:49596800-49600400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr10:49597200-49599200	Enhancers	GM12878-XiMat	blood
22	chr10:49597200-49600200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr10:49597200-49600600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:49597400-49599000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr10:49597400-49599800	Enhancers	Duodenum Mucosa	Duodenum
26	chr10:49597400-49599800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr10:49597400-49600000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr10:49597400-49600000	Enhancers	NHLF	lung
29	chr10:49597400-49600200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr10:49597400-49600200	Enhancers	HSMMtube	muscle
31	chr10:49597400-49600400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:49597400-49600400	Enhancers	Small Intestine	intestine
33	chr10:49597400-49600400	Enhancers	HMEC	breast
34	chr10:49597600-49599200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr10:49597600-49599400	Weak transcription	Right Ventricle	heart
36	chr10:49597600-49599800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr10:49597600-49600000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr10:49597600-49600200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr10:49597600-49600200	Genic enhancers	K562	blood
40	chr10:49597600-49600800	Enhancers	HUVEC	blood vessel
41	chr10:49597600-49601200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr10:49597800-49599000	Weak transcription	NHDF-Ad	bronchial
43	chr10:49597800-49599200	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr10:49598200-49599000	Weak transcription	Dnd41	blood
45	chr10:49598200-49599000	Weak transcription	HepG2	liver
46	chr10:49598200-49599400	Weak transcription	Stomach Mucosa	stomach
47	chr10:49598200-49599600	Weak transcription	Gastric	stomach
48	chr10:49598200-49599800	Weak transcription	Ovary	ovary
49	chr10:49598200-49600400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr10:49598200-49606400	Weak transcription	Brain Inferior Temporal Lobe	brain

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