Variant report

Variant	rs4364065
Chromosome Location	chr2:48672716-48672717
allele	C/G
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	REST	chr2:48672133-48672756	PFSK-1	brain:	n/a	n/a
2	MAFK	chr2:48672542-48672757	HepG2	liver:	n/a	chr2:48672628-48672643
3	FOS	chr2:48672492-48672792	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr2:48672507-48672734	MCF10A-Er-Src	breast:	n/a	n/a
5	REST	chr2:48672254-48672777	MCF-7	breast:	n/a	n/a
6	STAT3	chr2:48672650-48672798	MCF10A-Er-Src	breast:	n/a	n/a
7	MAFK	chr2:48672617-48672772	HepG2	liver:	n/a	chr2:48672628-48672643

No.	Distal block	Cell Line	Cell type
1	chr2:48671387..48674060-chr2:48675787..48677578,2	K562	blood:
2	chr2:48339056..48340844-chr2:48670929..48673082,2	K562	blood:
3	chr2:48671546..48674285-chr2:48724778..48726392,2	MCF-7	breast:
4	chr2:48671508..48673147-chr2:48678922..48681250,2	K562	blood:

Variant related genes	Relation type
ENSG00000272663	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10182093	0.83[EUR][1000 genomes]
rs10191938	0.83[EUR][1000 genomes]
rs10195717	0.84[EUR][1000 genomes]
rs10197359	0.84[EUR][1000 genomes]
rs11674217	0.91[EUR][1000 genomes]
rs11674317	1.00[AFR][1000 genomes]
rs11674683	1.00[AFR][1000 genomes]
rs11675947	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11676078	0.91[EUR][1000 genomes]
rs11676925	1.00[AFR][1000 genomes]
rs11677350	1.00[AFR][1000 genomes]
rs11678825	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11678934	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11679518	1.00[AFR][1000 genomes]
rs11679685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11680968	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11682838	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11683202	0.91[EUR][1000 genomes]
rs11687276	0.81[EUR][1000 genomes]
rs11687401	1.00[AFR][1000 genomes]
rs11687461	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11687498	0.80[AMR][1000 genomes]
rs11687771	0.87[AMR][1000 genomes]
rs11687851	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11688465	1.00[AFR][1000 genomes]
rs11689288	0.80[AMR][1000 genomes]
rs11690526	0.87[AMR][1000 genomes]
rs11691302	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11691407	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11692537	0.91[EUR][1000 genomes]
rs11693784	0.87[AMR][1000 genomes]
rs11694094	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11694955	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13398456	0.84[EUR][1000 genomes]
rs17325698	1.00[AFR][1000 genomes]
rs17397449	0.93[EUR][1000 genomes]
rs17397707	1.00[AFR][1000 genomes]
rs28505584	0.91[EUR][1000 genomes]
rs2937	0.87[AMR][1000 genomes]
rs72889641	0.84[EUR][1000 genomes]
rs7573281	0.91[EUR][1000 genomes]
rs7584796	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4364065	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48668600-48682000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:48668800-48672800	Weak transcription	Left Ventricle	heart
3	chr2:48668800-48673000	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:48668800-48673600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:48668800-48674200	Weak transcription	Small Intestine	intestine
6	chr2:48668800-48675200	Weak transcription	HSMM	muscle
7	chr2:48668800-48675800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:48668800-48675800	Weak transcription	Psoas Muscle	Psoas
9	chr2:48668800-48678800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:48668800-48679600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:48668800-48682400	Weak transcription	Lung	lung
12	chr2:48669000-48672800	Enhancers	Liver	Liver
13	chr2:48669000-48673200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:48669000-48673200	Flanking Active TSS	GM12878-XiMat	blood
15	chr2:48669000-48673600	Enhancers	Brain Substantia Nigra	brain
16	chr2:48669000-48675200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:48669000-48678400	Weak transcription	Colonic Mucosa	Colon
18	chr2:48669000-48678800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr2:48669000-48679000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:48669000-48680000	Weak transcription	Fetal Stomach	stomach
21	chr2:48669000-48681800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:48669000-48683400	Weak transcription	Right Ventricle	heart
23	chr2:48669200-48673600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:48669200-48673600	Enhancers	HepG2	liver
25	chr2:48669200-48674400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:48669200-48675600	Weak transcription	Adipose Nuclei	Adipose
27	chr2:48669200-48678400	Weak transcription	HUVEC	blood vessel
28	chr2:48669200-48698200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr2:48669400-48673400	Enhancers	Brain Cingulate Gyrus	brain
30	chr2:48669400-48673600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr2:48669400-48674200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:48669400-48674200	Weak transcription	Fetal Thymus	thymus
33	chr2:48669400-48674400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:48669400-48674400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:48669400-48674600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:48669400-48674800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:48669400-48675200	Enhancers	Primary T cells from cord blood	blood
38	chr2:48669400-48675200	Weak transcription	A549	lung
39	chr2:48669400-48675200	Weak transcription	HSMMtube	muscle
40	chr2:48669400-48675400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:48669400-48675400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:48669400-48675400	Weak transcription	NH-A	brain
43	chr2:48669400-48675800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:48669400-48685000	Weak transcription	Fetal Brain Female	brain
45	chr2:48669400-48693800	Weak transcription	Hela-S3	cervix
46	chr2:48669600-48673000	Enhancers	Brain Hippocampus Middle	brain
47	chr2:48669600-48674800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:48669600-48675000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr2:48669600-48675800	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr2:48669600-48675800	Weak transcription	Stomach Mucosa	stomach

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