Variant report

Variant	rs17639655
Chromosome Location	chr6:37649020-37649021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37647992..37650901-chr6:37651489..37653711,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10485031	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10755699	1.00[CHB][hapmap]
rs1619327	1.00[CHB][hapmap]
rs1738454	1.00[CHB][hapmap]
rs1776447	1.00[CHB][hapmap]
rs3846877	1.00[CHB][hapmap]
rs3887743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs4236057	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs61036221	1.00[ASN][1000 genomes]
rs6911875	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6915583	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6922589	1.00[CHB][hapmap]
rs72847482	1.00[ASN][1000 genomes]
rs72847491	1.00[ASN][1000 genomes]
rs72847494	1.00[ASN][1000 genomes]
rs72847500	1.00[ASN][1000 genomes]
rs73415421	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804828	1.00[CHB][hapmap]
rs804840	1.00[CHB][hapmap]
rs804841	1.00[CHB][hapmap]
rs9380696	1.00[CHB][hapmap]
rs9470660	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17639655	KIF6	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37629600-37659600	Weak transcription	Ovary	ovary
2	chr6:37645200-37651400	Enhancers	Fetal Brain Male	brain
3	chr6:37646000-37649600	Enhancers	Primary B cells from peripheral blood	blood
4	chr6:37646000-37650400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr6:37646600-37649400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr6:37647000-37649200	Enhancers	Fetal Muscle Leg	muscle
7	chr6:37647400-37649400	Enhancers	Brain Angular Gyrus	brain
8	chr6:37647600-37649200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:37647600-37649400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:37647800-37649400	Enhancers	Fetal Stomach	stomach
11	chr6:37647800-37649600	Enhancers	Brain Anterior Caudate	brain
12	chr6:37647800-37649800	Enhancers	Fetal Brain Female	brain
13	chr6:37647800-37650000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:37648200-37649200	Enhancers	Lung	lung
15	chr6:37648400-37649800	Enhancers	Brain Hippocampus Middle	brain
16	chr6:37648400-37650000	Enhancers	Brain Germinal Matrix	brain
17	chr6:37648400-37651400	Weak transcription	Spleen	Spleen
18	chr6:37648400-37652200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:37648600-37649200	Enhancers	Fetal Muscle Trunk	muscle
20	chr6:37648600-37649800	Enhancers	Brain Cingulate Gyrus	brain
21	chr6:37648600-37650000	Enhancers	Brain Substantia Nigra	brain
22	chr6:37648800-37649200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:37648800-37652800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:37649000-37649800	Enhancers	Stomach Smooth Muscle	stomach
25	chr6:37649000-37650800	Weak transcription	GM12878-XiMat	blood
26	chr6:37649000-37651200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:37649000-37656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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