Variant report

Variant	rs60685674
Chromosome Location	chr12:31887358-31887359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31885987..31887663-chr12:31893396..31895350,2	K562	blood:
2	chr12:31885898..31889640-chr12:32111582..32115997,5	K562	blood:
3	chr12:31880350..31888706-chr12:31898122..31903847,15	K562	blood:
4	chr12:31885885..31887666-chr12:31889660..31891228,2	MCF-7	breast:
5	chr12:31885818..31888336-chr12:32049032..32051077,2	K562	blood:
6	chr12:31886667..31888400-chr12:31898421..31901414,2	K562	blood:
7	chr12:31885928..31888449-chr12:32111582..32113888,2	K562	blood:

Variant related genes	Relation type
ENSG00000174718	Chromatin interaction
ENSG00000244436	Chromatin interaction
ENSG00000256843	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11836705	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836727	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836739	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28414007	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55654071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57003468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57914624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60077276	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60314175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60342738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60923381	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085202	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087505	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087511	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087517	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	nsv898967	chr12:31858031-31899475	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2422415	chr12:31863360-31930722	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
12	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
13	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
14	nsv558101	chr12:31876666-32006563	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv1050448	chr12:31877289-31927006	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31883000-31887400	Enhancers	Placenta	Placenta
2	chr12:31883000-31896000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:31883200-31887400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:31883200-31887600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:31883200-31887600	Enhancers	Fetal Thymus	thymus
6	chr12:31883200-31889400	Weak transcription	Primary T cells from cord blood	blood
7	chr12:31884000-31887400	Enhancers	Left Ventricle	heart
8	chr12:31884200-31888800	Enhancers	NHDF-Ad	bronchial
9	chr12:31884400-31887400	Enhancers	Psoas Muscle	Psoas
10	chr12:31884600-31887400	Enhancers	Stomach Mucosa	stomach
11	chr12:31884600-31888000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:31884600-31889800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:31884800-31887400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:31884800-31888600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:31885000-31887400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr12:31885000-31887400	Enhancers	HMEC	breast
17	chr12:31885000-31887600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr12:31885200-31887400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:31885200-31887400	Enhancers	Osteobl	bone
20	chr12:31885200-31888600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:31885200-31889600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:31885400-31893800	Weak transcription	Primary B cells from cord blood	blood
23	chr12:31885800-31887400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:31885800-31888400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr12:31885800-31900200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr12:31886000-31887400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr12:31886000-31887400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr12:31886000-31887400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr12:31886000-31887400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:31886000-31887400	Enhancers	Lung	lung
31	chr12:31886000-31887600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:31886000-31890800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:31886200-31887400	Enhancers	NH-A	brain
34	chr12:31886200-31887600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:31886200-31889400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr12:31886200-31889400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:31886200-31889600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:31886200-31889600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:31886400-31887400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr12:31886400-31887400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:31886400-31887400	Enhancers	GM12878-XiMat	blood
42	chr12:31886400-31887400	Enhancers	NHEK	skin
43	chr12:31886400-31887600	Enhancers	Hela-S3	cervix
44	chr12:31886400-31888800	Enhancers	K562	blood
45	chr12:31886400-31889600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:31886400-31899400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:31886600-31887400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:31886600-31887400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:31886600-31887400	Enhancers	Dnd41	blood
50	chr12:31886800-31887400	Enhancers	HUES48 Cell Line	embryonic stem cell

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