Variant report

Variant	rs17048352
Chromosome Location	chr2:114478311-114478312
allele	A/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	CTCF	chr2:114477502-114478346	A549	lung:	n/a	chr2:114477945-114477954 chr2:114477939-114477957
2	CTCF	chr2:114477677-114478313	SK-N-SH	brain:	n/a	chr2:114477945-114477954 chr2:114477939-114477957

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114476035..114479420-chr2:114481411..114484659,3	K562	blood:
2	chr2:114477814..114479515-chr2:114484887..114487513,2	K562	blood:

Variant related genes	Relation type
SLC35F5	TF binding region
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10176845	1.00[EUR][1000 genomes]
rs11889509	1.00[EUR][1000 genomes]
rs11889598	1.00[EUR][1000 genomes]
rs11891411	1.00[EUR][1000 genomes]
rs11891462	1.00[EUR][1000 genomes]
rs12105197	1.00[EUR][1000 genomes]
rs13384052	1.00[EUR][1000 genomes]
rs13424899	0.82[LWK][hapmap]
rs17045715	1.00[EUR][1000 genomes]
rs17045864	1.00[EUR][1000 genomes]
rs17048297	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17048299	0.81[LWK][hapmap]
rs4255968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55641866	1.00[EUR][1000 genomes]
rs55898668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55926723	1.00[EUR][1000 genomes]
rs55952342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55969528	1.00[EUR][1000 genomes]
rs56235472	1.00[EUR][1000 genomes]
rs57443397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58242493	1.00[EUR][1000 genomes]
rs59403353	1.00[EUR][1000 genomes]
rs59858371	1.00[EUR][1000 genomes]
rs60313988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60779750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60896642	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61113571	1.00[EUR][1000 genomes]
rs61179082	1.00[EUR][1000 genomes]
rs61704468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6743688	1.00[EUR][1000 genomes]
rs72948697	1.00[EUR][1000 genomes]
rs73955093	1.00[EUR][1000 genomes]
rs73955096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73955101	1.00[EUR][1000 genomes]
rs73955102	1.00[EUR][1000 genomes]
rs73957403	1.00[EUR][1000 genomes]
rs73957404	1.00[EUR][1000 genomes]
rs73957406	1.00[EUR][1000 genomes]
rs73957408	1.00[EUR][1000 genomes]
rs73957425	1.00[EUR][1000 genomes]
rs73957426	1.00[EUR][1000 genomes]
rs7589738	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001195	chr2:114362003-114506330	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv979109	chr2:114429638-114495192	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv979339	chr2:114430138-114495192	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114458200-114486200	Weak transcription	Dnd41	blood
2	chr2:114458200-114512600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:114458400-114484200	Weak transcription	Pancreas	Pancrea
4	chr2:114458400-114497200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:114458400-114500000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:114460200-114484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:114461400-114513200	Weak transcription	Small Intestine	intestine
8	chr2:114461600-114484200	Weak transcription	Lung	lung
9	chr2:114461600-114484400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:114461600-114499800	Weak transcription	Hela-S3	cervix
11	chr2:114462000-114497400	Weak transcription	Colonic Mucosa	Colon
12	chr2:114463000-114498800	Weak transcription	Esophagus	oesophagus
13	chr2:114464000-114484200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:114464000-114484200	Weak transcription	Gastric	stomach
15	chr2:114464000-114497600	Weak transcription	Right Ventricle	heart
16	chr2:114464000-114497600	Weak transcription	Spleen	Spleen
17	chr2:114464600-114484600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:114465200-114486400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:114465200-114512000	Weak transcription	Stomach Mucosa	stomach
20	chr2:114465800-114480000	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:114465800-114484800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:114467400-114479800	Weak transcription	Brain Angular Gyrus	brain
23	chr2:114467400-114497200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:114467600-114486200	Weak transcription	Fetal Brain Male	brain
25	chr2:114467800-114484200	Weak transcription	Aorta	Aorta
26	chr2:114468800-114512800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:114469400-114510400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:114469800-114482000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:114469800-114486400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:114470000-114497400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:114470000-114500200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:114470200-114493400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:114470200-114511200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr2:114470400-114510800	Strong transcription	HSMM	muscle
35	chr2:114471000-114480000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:114471000-114483200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:114471000-114486000	Weak transcription	K562	blood
38	chr2:114471000-114488200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:114471000-114495600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:114471000-114495600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:114471000-114498600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:114471000-114500200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:114472000-114480800	Strong transcription	HepG2	liver
44	chr2:114472800-114486200	Weak transcription	A549	lung
45	chr2:114472800-114486600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:114473200-114488600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:114473200-114494600	Weak transcription	Fetal Heart	heart
48	chr2:114473400-114484800	Weak transcription	HMEC	breast
49	chr2:114473800-114497200	Weak transcription	NHEK	skin
50	chr2:114474200-114482600	Weak transcription	Psoas Muscle	Psoas

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