Variant report

Variant	rs10864454
Chromosome Location	chr1:10417853-10417854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10397421..10400219-chr1:10415768..10418232,2	K562	blood:
2	chr1:10411173..10412674-chr1:10417701..10420105,2	K562	blood:
3	chr1:10417330..10419820-chr1:10480235..10483214,2	K562	blood:
4	chr1:10412881..10415019-chr1:10415949..10418142,2	K562	blood:
5	chr1:10417651..10420342-chr1:10423874..10426991,3	K562	blood:

Variant related genes	Relation type
ENSG00000054523	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11121542	0.95[EUR][1000 genomes]
rs11121548	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12120465	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12120499	0.83[EUR][1000 genomes]
rs12125492	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12135219	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12135774	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12137527	0.82[EUR][1000 genomes]
rs12139158	0.87[EUR][1000 genomes]
rs12141192	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12142043	0.91[EUR][1000 genomes]
rs17396340	0.82[EUR][1000 genomes]
rs17397129	0.89[EUR][1000 genomes]
rs17400878	0.84[EUR][1000 genomes]
rs17401588	0.90[EUR][1000 genomes]
rs3762289	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4240912	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4240913	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4846204	0.85[EUR][1000 genomes]
rs4846214	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4846215	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4846217	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58036267	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61383940	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6541092	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6670157	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6679596	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6693965	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6694081	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6702280	0.82[EUR][1000 genomes]
rs6703602	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7525661	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10864454	KIF1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10364600-10431000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:10380400-10436600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:10380600-10426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:10381000-10436400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:10385200-10436400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:10386000-10434800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:10386400-10421600	Weak transcription	Hela-S3	cervix
8	chr1:10393200-10431200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:10393600-10430800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:10393800-10444600	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:10394200-10441800	Strong transcription	Liver	Liver
12	chr1:10395600-10425200	Weak transcription	Thymus	Thymus
13	chr1:10397600-10421000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:10397800-10425400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:10397800-10434800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:10398000-10421000	Weak transcription	NHEK	skin
17	chr1:10398000-10438000	Weak transcription	GM12878-XiMat	blood
18	chr1:10398400-10425400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:10399000-10420800	Weak transcription	NHLF	lung
20	chr1:10400200-10438200	Weak transcription	Stomach Mucosa	stomach
21	chr1:10400600-10434600	Weak transcription	K562	blood
22	chr1:10400600-10446400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:10400600-10447400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:10401600-10420800	Weak transcription	Fetal Heart	heart
25	chr1:10401600-10421000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:10402200-10418400	Weak transcription	A549	lung
27	chr1:10402600-10437200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:10403800-10421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:10404200-10421000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:10404400-10421000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:10404400-10421200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:10404400-10433800	Weak transcription	Dnd41	blood
33	chr1:10404600-10421400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:10404600-10421800	Weak transcription	Fetal Brain Male	brain
35	chr1:10405000-10421600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:10407800-10421000	Weak transcription	HMEC	breast
37	chr1:10408800-10420800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:10408800-10421000	Weak transcription	Primary B cells from cord blood	blood
39	chr1:10409000-10420200	Weak transcription	Fetal Kidney	kidney
40	chr1:10409000-10421600	Weak transcription	NH-A	brain
41	chr1:10409000-10425200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:10409000-10427800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:10409200-10420800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:10409200-10421000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:10409200-10421000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:10409200-10421000	Weak transcription	Aorta	Aorta
47	chr1:10409200-10421000	Weak transcription	Gastric	stomach
48	chr1:10409200-10425200	Weak transcription	Fetal Thymus	thymus
49	chr1:10409400-10420800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:10409400-10420800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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