Variant report

Variant	rs10149122
Chromosome Location	chr14:31553136-31553137
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31495967..31497568-chr14:31552055..31553964,3	K562	blood:
2	chr14:31492305..31494786-chr14:31552941..31555332,2	K562	blood:
3	chr14:31495967..31497568-chr14:31552055..31553964,2	K562	blood:
4	chr14:31548388..31550747-chr14:31553010..31555958,3	K562	blood:
5	chr14:31495016..31496980-chr14:31552994..31555861,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196792	Chromatin interaction
ENSG00000100478	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10130310	0.85[GIH][hapmap]
rs10143450	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894329	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097714	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs58023664	0.94[ASN][1000 genomes]
rs71417946	0.94[ASN][1000 genomes]
rs7157080	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257769	0.94[ASN][1000 genomes]
rs8007102	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10149122	HECTD1	cis	cerebellum	SCAN
rs10149122	PRKD1	cis	parietal	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney
2	chr14:31522800-31553600	Weak transcription	Lung	lung
3	chr14:31528600-31567200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:31528800-31559600	Weak transcription	Liver	Liver
5	chr14:31529000-31554400	Weak transcription	Colonic Mucosa	Colon
6	chr14:31529000-31559600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr14:31529000-31559800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:31529600-31554000	Weak transcription	Spleen	Spleen
9	chr14:31529800-31559800	Weak transcription	Small Intestine	intestine
10	chr14:31529800-31566200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:31530000-31567000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:31530000-31567200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:31530800-31559400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr14:31533000-31553200	Weak transcription	Brain Anterior Caudate	brain
15	chr14:31533400-31560000	Weak transcription	Left Ventricle	heart
16	chr14:31534200-31566400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:31534400-31566200	Weak transcription	Fetal Thymus	thymus
18	chr14:31534600-31572000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:31534800-31569200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr14:31536200-31559800	Weak transcription	Brain Angular Gyrus	brain
21	chr14:31536400-31566000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:31536600-31559600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:31536800-31553800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:31537400-31569200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:31537600-31553200	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:31537800-31569800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:31538000-31567200	Weak transcription	GM12878-XiMat	blood
28	chr14:31538600-31559000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr14:31539000-31559600	Weak transcription	Adipose Nuclei	Adipose
30	chr14:31539000-31567200	Weak transcription	Thymus	Thymus
31	chr14:31539400-31560000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr14:31539800-31554000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:31539800-31559000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:31540000-31559800	Weak transcription	Colon Smooth Muscle	Colon
35	chr14:31540200-31553400	Weak transcription	Placenta	Placenta
36	chr14:31540200-31565600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:31540600-31553600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:31540600-31559400	Weak transcription	NHDF-Ad	bronchial
39	chr14:31540600-31567000	Weak transcription	Dnd41	blood
40	chr14:31541000-31558800	Weak transcription	Psoas Muscle	Psoas
41	chr14:31541800-31559800	Weak transcription	Pancreas	Pancrea
42	chr14:31541800-31567200	Weak transcription	Fetal Brain Male	brain
43	chr14:31542000-31554000	Weak transcription	Ovary	ovary
44	chr14:31542000-31559800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr14:31542200-31553400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:31542200-31559600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:31542400-31559400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:31544600-31553200	Weak transcription	Fetal Intestine Large	intestine
49	chr14:31544600-31553800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr14:31544600-31559800	Weak transcription	Fetal Lung	lung

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