Variant report

Variant	rs12051896
Chromosome Location	chr17:57207791-57207792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:57207360..57209132-chr17:57285952..57288024,2	K562	blood:
2	chr17:57193612..57196572-chr17:57207596..57210224,2	MCF-7	breast:
3	chr17:57206910..57209463-chr17:57231955..57233663,2	MCF-7	breast:
4	chr17:57196311..57198069-chr17:57207745..57209422,2	K562	blood:

Variant related genes	Relation type
ENSG00000182628	Chromatin interaction
ENSG00000167447	Chromatin interaction
ENSG00000068489	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11654986	0.83[AMR][1000 genomes]
rs11658694	0.84[AMR][1000 genomes]
rs12051897	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1871751	0.83[AMR][1000 genomes]
rs56360354	0.84[AMR][1000 genomes]
rs62081890	0.87[ASN][1000 genomes]
rs6503896	0.83[AMR][1000 genomes]
rs6503898	0.83[ASN][1000 genomes]
rs7208505	0.84[AMR][1000 genomes]
rs7213269	0.83[ASN][1000 genomes]
rs7214098	0.84[AMR][1000 genomes]
rs7217845	0.83[ASN][1000 genomes]
rs7342863	0.87[ASN][1000 genomes]
rs7502541	0.81[ASN][1000 genomes]
rs7502947	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8067682	0.87[ASN][1000 genomes]
rs8072182	0.89[ASN][1000 genomes]
rs8073316	0.89[ASN][1000 genomes]
rs8073699	0.82[ASN][1000 genomes]
rs8077052	0.89[ASN][1000 genomes]
rs9303403	0.87[ASN][1000 genomes]
rs9892425	0.82[ASN][1000 genomes]
rs9909925	0.89[ASN][1000 genomes]
rs9910629	0.89[ASN][1000 genomes]
rs9911583	0.89[ASN][1000 genomes]
rs9915267	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908643	chr17:56803028-57249010	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv908644	chr17:56803028-57371432	Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
3	esv3335958	chr17:56849544-57385398	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	nsv908645	chr17:56857281-57208752	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	150 gene(s)	inside rSNPs	diseases
5	nsv1065063	chr17:56954121-57346694	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
6	nsv1064384	chr17:57049519-57346694	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
7	nsv908646	chr17:57061238-57255810	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	206 gene(s)	inside rSNPs	diseases
8	nsv833499	chr17:57070693-57288410	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	208 gene(s)	inside rSNPs	diseases
9	nsv1066388	chr17:57082013-57339981	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers 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	209 gene(s)	inside rSNPs	diseases
10	esv2758462	chr17:57082579-57425634	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS 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	213 gene(s)	inside rSNPs	diseases
11	esv2758699	chr17:57082579-57425634	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	213 gene(s)	inside rSNPs	diseases
12	nsv1066467	chr17:57117682-57338731	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	200 gene(s)	inside rSNPs	diseases
13	nsv1057209	chr17:57117682-57742240	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
14	nsv543396	chr17:57117682-57742240	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
15	nsv1066788	chr17:57126446-57344129	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	193 gene(s)	inside rSNPs	diseases
16	nsv482858	chr17:57136446-57288615	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	184 gene(s)	inside rSNPs	diseases
17	nsv908647	chr17:57165097-57290383	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
18	nsv908648	chr17:57165097-57322954	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	179 gene(s)	inside rSNPs	diseases
19	nsv1063542	chr17:57179669-57569673	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
20	nsv543397	chr17:57179669-57569673	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	172 gene(s)	inside rSNPs	diseases
21	nsv1062959	chr17:57179669-57680772	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
22	esv1792828	chr17:57185807-57219391	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
23	nsv1060807	chr17:57189467-57344129	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	114 gene(s)	inside rSNPs	diseases
24	esv2761969	chr17:57192821-57211602	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
25	nsv1064115	chr17:57199370-57369270	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
26	esv1803083	chr17:57206124-57233048	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	87 gene(s)	inside rSNPs	diseases
27	esv1793348	chr17:57207540-57233048	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	87 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12051896	TRIM37	cis	Whole Blood	GTEx
rs12051896	TRIM37	cis	Muscle Skeletal	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:57184800-57209000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr17:57184800-57231000	Weak transcription	Aorta	Aorta
3	chr17:57185000-57211200	Weak transcription	Right Ventricle	heart
4	chr17:57185000-57212000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:57185000-57218800	Weak transcription	Fetal Intestine Large	intestine
6	chr17:57185000-57221600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:57185000-57231000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr17:57185000-57231200	Weak transcription	Lung	lung
9	chr17:57185200-57208200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr17:57185200-57208600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr17:57185200-57212800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:57185200-57223000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:57185200-57226200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr17:57185200-57228400	Weak transcription	Fetal Heart	heart
15	chr17:57185600-57208600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:57185600-57227800	Weak transcription	Fetal Brain Male	brain
17	chr17:57186000-57231200	Weak transcription	Colon Smooth Muscle	Colon
18	chr17:57186600-57208200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:57189200-57208400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr17:57189200-57230400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr17:57191200-57208600	Strong transcription	Fetal Thymus	thymus
22	chr17:57192000-57208800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr17:57192200-57212000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr17:57192400-57208400	Weak transcription	Brain Substantia Nigra	brain
25	chr17:57192400-57229600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr17:57193200-57215800	Weak transcription	NHEK	skin
27	chr17:57193200-57219800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr17:57193600-57223200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr17:57194400-57231200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:57195600-57230400	Weak transcription	Fetal Intestine Small	intestine
31	chr17:57196600-57226000	Weak transcription	HUVEC	blood vessel
32	chr17:57196600-57226600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:57196800-57209400	Weak transcription	NH-A	brain
34	chr17:57196800-57210000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr17:57196800-57226600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr17:57197600-57228400	Weak transcription	Fetal Brain Female	brain
37	chr17:57198000-57231000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr17:57198200-57230800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr17:57198800-57231000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr17:57199800-57216800	Weak transcription	HMEC	breast
41	chr17:57200200-57208400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr17:57200200-57229200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:57201000-57209400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr17:57202200-57220600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr17:57202200-57226000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr17:57202400-57227200	Weak transcription	Left Ventricle	heart
47	chr17:57203000-57225800	Weak transcription	NHLF	lung
48	chr17:57203000-57227200	Weak transcription	Small Intestine	intestine
49	chr17:57203400-57209200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr17:57203800-57209000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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