Variant report

Variant	rs4902492
Chromosome Location	chr14:68044005-68044006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr14:68043851-68044023	K562	blood:	n/a	chr14:68043943-68043953 chr14:68043942-68043950 chr14:68043944-68043952 chr14:68043931-68043953 chr14:68043936-68043955

No.	Distal block	Cell Line	Cell type
1	chr14:68043266..68044922-chr14:68046308..68048349,2	K562	blood:
2	chr14:67998392..68000379-chr14:68043032..68045856,2	MCF-7	breast:
3	chr14:67998697..68001854-chr14:68041996..68045954,4	MCF-7	breast:
4	chr14:68043032..68045186-chr14:68141447..68143091,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHH1	TF binding region
ENSG00000054690	Chromatin interaction
ENSG00000198133	Chromatin interaction
ENSG00000100568	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10133699	1.00[EUR][1000 genomes]
rs10135963	1.00[EUR][1000 genomes]
rs10136738	1.00[EUR][1000 genomes]
rs10139064	1.00[EUR][1000 genomes]
rs10139482	1.00[EUR][1000 genomes]
rs10145923	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10145933	1.00[EUR][1000 genomes]
rs10146242	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10147145	1.00[EUR][1000 genomes]
rs10150532	1.00[EUR][1000 genomes]
rs17104527	1.00[EUR][1000 genomes]
rs17104547	1.00[EUR][1000 genomes]
rs17104587	1.00[EUR][1000 genomes]
rs17104591	1.00[EUR][1000 genomes]
rs2234512	1.00[EUR][1000 genomes]
rs2295109	1.00[EUR][1000 genomes]
rs2295110	1.00[EUR][1000 genomes]
rs28451245	1.00[EUR][1000 genomes]
rs28556682	1.00[EUR][1000 genomes]
rs28780734	1.00[EUR][1000 genomes]
rs28784083	1.00[EUR][1000 genomes]
rs28817410	1.00[EUR][1000 genomes]
rs28844401	1.00[EUR][1000 genomes]
rs4899218	1.00[EUR][1000 genomes]
rs4902510	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4902516	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs57023353	1.00[EUR][1000 genomes]
rs58952057	1.00[EUR][1000 genomes]
rs59945885	1.00[EUR][1000 genomes]
rs7143223	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7144698	1.00[EUR][1000 genomes]
rs7149669	1.00[EUR][1000 genomes]
rs7156195	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7359109	1.00[EUR][1000 genomes]
rs7765	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8007916	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4902492	RASIP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
2	chr14:68008800-68052200	Weak transcription	Left Ventricle	heart
3	chr14:68009000-68044800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:68009000-68050400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:68009200-68045200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:68011800-68045000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:68011800-68054600	Weak transcription	Hela-S3	cervix
8	chr14:68012000-68045000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:68013400-68052600	Weak transcription	Aorta	Aorta
10	chr14:68022800-68053000	Weak transcription	Lung	lung
11	chr14:68026400-68057400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr14:68026600-68054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:68026600-68055200	Weak transcription	HMEC	breast
14	chr14:68027600-68045400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:68030000-68044800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:68034400-68052400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:68034600-68057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:68034800-68044800	Weak transcription	Adipose Nuclei	Adipose
19	chr14:68034800-68047200	Weak transcription	Stomach Mucosa	stomach
20	chr14:68036800-68052400	Weak transcription	Fetal Thymus	thymus
21	chr14:68038400-68052200	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr14:68038400-68052400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:68038600-68057800	Strong transcription	Brain Cingulate Gyrus	brain
24	chr14:68039200-68046000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:68039400-68049000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr14:68039400-68049200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:68039400-68049400	Strong transcription	Fetal Stomach	stomach
28	chr14:68039400-68057200	Strong transcription	Brain Germinal Matrix	brain
29	chr14:68039400-68057400	Strong transcription	Brain Anterior Caudate	brain
30	chr14:68039600-68044600	Strong transcription	Gastric	stomach
31	chr14:68039600-68046200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:68039600-68046800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr14:68039600-68049400	Strong transcription	Brain Angular Gyrus	brain
34	chr14:68039600-68061000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr14:68039800-68048600	Strong transcription	Fetal Brain Female	brain
36	chr14:68040000-68057800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr14:68040200-68044800	Strong transcription	Brain Substantia Nigra	brain
38	chr14:68040200-68045000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:68040200-68046800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr14:68040400-68051600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:68040600-68044200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:68040600-68044200	Weak transcription	Fetal Kidney	kidney
43	chr14:68040600-68055400	Weak transcription	HepG2	liver
44	chr14:68040800-68052000	Strong transcription	Brain Hippocampus Middle	brain
45	chr14:68040800-68057800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr14:68041200-68052400	Weak transcription	Thymus	Thymus
47	chr14:68041600-68049200	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr14:68042200-68048000	Strong transcription	Colonic Mucosa	Colon
49	chr14:68042200-68057000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:68042400-68044800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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