Variant report

Variant	rs2708081
Chromosome Location	chr12:121463288-121463289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121454608..121456254-chr12:121460515..121463475,3	K562	blood:
2	chr12:121462116..121464172-chr12:121497468..121500006,2	MCF-7	breast:
3	chr12:121455739..121458547-chr12:121462154..121463997,2	MCF-7	breast:
4	chr12:121018462..121021089-chr12:121462711..121464261,2	MCF-7	breast:
5	chr12:121452643..121457408-chr12:121461392..121466070,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167272	Chromatin interaction
ENSG00000157895	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10849829	0.80[MKK][hapmap]
rs1169302	0.87[MKK][hapmap]
rs2258287	0.87[MKK][hapmap];0.85[YRI][hapmap]
rs2259693	0.88[YRI][hapmap]
rs2259883	0.84[YRI][hapmap]
rs3213547	0.89[CHB][hapmap]
rs34119995	0.97[ASN][1000 genomes]
rs3751149	0.89[CHB][hapmap];0.95[CHD][hapmap];0.83[ASN][1000 genomes]
rs3751152	0.89[CHB][hapmap];0.95[CHD][hapmap];0.83[ASN][1000 genomes]
rs3999410	0.83[ASN][1000 genomes]
rs68088379	0.83[ASN][1000 genomes]
rs7300883	0.86[ASN][1000 genomes]
rs73214144	0.83[ASN][1000 genomes]
rs73214156	0.83[ASN][1000 genomes]
rs73214160	0.97[ASN][1000 genomes]
rs73214164	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic 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 target site	24 gene(s)	inside rSNPs	diseases
6	nsv1037195	chr12:121408540-121470375	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv1039216	chr12:121421701-121538491	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2708081	DYNLL1	cis	cerebellum	SCAN
rs2708081	SPPL3	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121454400-121463600	Weak transcription	Lung	lung
2	chr12:121454400-121464800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:121454400-121471600	Weak transcription	GM12878-XiMat	blood
4	chr12:121454400-121472200	Weak transcription	Primary T cells from cord blood	blood
5	chr12:121454400-121475800	Weak transcription	Adipose Nuclei	Adipose
6	chr12:121454400-121476000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:121454400-121476400	Weak transcription	Right Atrium	heart
8	chr12:121454600-121463400	Weak transcription	Hela-S3	cervix
9	chr12:121454600-121463800	Weak transcription	Colonic Mucosa	Colon
10	chr12:121454600-121470200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:121454600-121471000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:121454600-121471000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:121454600-121471200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:121454600-121471600	Weak transcription	Fetal Thymus	thymus
15	chr12:121454600-121476200	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:121454600-121476200	Weak transcription	Gastric	stomach
17	chr12:121454800-121470400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:121454800-121471000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:121457600-121466000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:121458800-121464000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:121458800-121465200	Enhancers	Liver	Liver
22	chr12:121459000-121463800	Weak transcription	K562	blood
23	chr12:121459000-121464600	Weak transcription	Spleen	Spleen
24	chr12:121460000-121471400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:121460200-121466400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:121460200-121467600	Weak transcription	Thymus	Thymus
27	chr12:121460600-121466000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr12:121461600-121464000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr12:121461800-121464800	Enhancers	Fetal Intestine Small	intestine
30	chr12:121462000-121464200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr12:121462000-121464600	Enhancers	Fetal Intestine Large	intestine
32	chr12:121462200-121463600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:121462200-121463800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr12:121462200-121464400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:121462200-121465200	Enhancers	Stomach Mucosa	stomach
36	chr12:121462200-121471000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:121462400-121463800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr12:121462600-121463800	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr12:121463200-121464200	Flanking Active TSS	HepG2	liver
40	chr12:121463200-121464400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:121463200-121464800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr12:121463200-121464800	Enhancers	Small Intestine	intestine
43	chr12:121463200-121466200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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