Variant report

Variant	rs11818942
Chromosome Location	chr10:98134345-98134346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:98133716..98135403-chr10:98271764..98273764,2	K562	blood:
2	chr10:98133863..98136449-chr10:98590863..98592811,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196233	Chromatin interaction
ENSG00000095587	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10748673	0.89[CHB][hapmap];0.83[CHD][hapmap]
rs10786277	0.83[CHD][hapmap]
rs10786279	0.86[CEU][hapmap]
rs10786281	0.89[CHB][hapmap]
rs10786282	0.89[CHB][hapmap];0.83[CHD][hapmap]
rs10882772	0.89[CEU][hapmap]
rs10882773	0.83[CHD][hapmap]
rs10882777	0.89[CHB][hapmap];0.83[CHD][hapmap]
rs10882778	0.89[CHB][hapmap]
rs10882783	0.89[CHB][hapmap]
rs10882784	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11188709	1.00[CEU][hapmap]
rs11188734	0.86[CHB][hapmap]
rs11188735	0.89[CHB][hapmap]
rs11188736	0.89[CHB][hapmap]
rs11188740	0.88[CHB][hapmap];0.91[CHD][hapmap];0.89[ASN][1000 genomes]
rs11591467	0.89[CEU][hapmap]
rs11593073	1.00[CEU][hapmap]
rs11593074	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs11593503	1.00[CEU][hapmap]
rs11597348	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs11818883	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818896	1.00[CHB][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111733	1.00[CEU][hapmap]
rs1923707	0.83[CHD][hapmap]
rs2273891	0.89[CEU][hapmap];0.83[CHD][hapmap]
rs2861572	0.89[CEU][hapmap]
rs2901990	0.89[CHB][hapmap];0.83[CHD][hapmap]
rs3789942	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3814223	0.89[CHB][hapmap]
rs3814224	0.80[CEU][hapmap]
rs3818313	0.89[CEU][hapmap];0.83[CHD][hapmap]
rs4917732	0.88[CEU][hapmap]
rs61741039	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7077344	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7893551	0.88[CEU][hapmap]

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	esv3413353	chr10:98039370-98561524	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv831950	chr10:98080972-98245434	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1047657	chr10:98123234-98183487	Weak transcription Active TSS Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11818942	GOT1	cis	cerebellum	SCAN
rs11818942	CHUK	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98117000-98134400	Weak transcription	Thymus	Thymus
2	chr10:98128200-98134800	Weak transcription	Left Ventricle	heart
3	chr10:98130200-98134400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr10:98130400-98134800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:98130600-98134400	Weak transcription	A549	lung
6	chr10:98130600-98134600	Weak transcription	Pancreas	Pancrea
7	chr10:98130600-98134800	Weak transcription	Hela-S3	cervix
8	chr10:98130800-98134400	Weak transcription	Brain Substantia Nigra	brain
9	chr10:98130800-98134600	Weak transcription	Dnd41	blood
10	chr10:98130800-98134800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr10:98131200-98134400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:98133400-98134600	Enhancers	Right Ventricle	heart
13	chr10:98133600-98134600	Enhancers	Brain Hippocampus Middle	brain
14	chr10:98133600-98134600	Weak transcription	HUVEC	blood vessel
15	chr10:98133800-98134600	Flanking Active TSS	Fetal Brain Female	brain
16	chr10:98133800-98134800	Bivalent Enhancer	Fetal Stomach	stomach
17	chr10:98134000-98134400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr10:98134000-98134400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr10:98134000-98134600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr10:98134000-98134600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:98134000-98134800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:98134000-98135000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr10:98134200-98134400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr10:98134200-98134400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
25	chr10:98134200-98134400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
26	chr10:98134200-98134400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr10:98134200-98134600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
28	chr10:98134200-98134600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr10:98134200-98134600	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr10:98134200-98134600	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr10:98134200-98134600	Flanking Active TSS	Fetal Brain Male	brain
32	chr10:98134200-98134600	Enhancers	Fetal Intestine Small	intestine
33	chr10:98134200-98134600	Enhancers	Fetal Kidney	kidney
34	chr10:98134200-98134600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr10:98134200-98134800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr10:98134200-98134800	Enhancers	Fetal Thymus	thymus
37	chr10:98134200-98135200	Flanking Active TSS	Brain Cingulate Gyrus	brain

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