Variant report

Variant	rs55742800
Chromosome Location	chr12:8178425-8178426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:8176971..8181306-chr12:8183014..8188345,18	MCF-7	breast:
2	chr12:8178333..8181229-chr12:8233064..8234704,2	MCF-7	breast:
3	chr12:8178331..8180832-chr12:8228186..8229968,3	MCF-7	breast:
4	chr12:8087342..8089043-chr12:8178119..8180785,2	K562	blood:
5	chr12:8176284..8181862-chr12:8230041..8234141,6	MCF-7	breast:
6	chr12:8178184..8181127-chr12:8181386..8183148,2	MCF-7	breast:
7	chr12:8178228..8180770-chr12:8234363..8236253,3	MCF-7	breast:
8	chr12:8169775..8172147-chr12:8177880..8181091,3	K562	blood:
9	chr12:8174476..8177185-chr12:8177278..8179295,2	MCF-7	breast:
10	chr12:8178100..8182086-chr12:8196857..8200725,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000089818	Chromatin interaction
ENSG00000059804	Chromatin interaction
ENSG00000255581	Chromatin interaction
ENSG00000065970	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10846303	0.83[AMR][1000 genomes]
rs10846304	0.83[AMR][1000 genomes]
rs11056802	0.83[AMR][1000 genomes]
rs11056817	0.83[AMR][1000 genomes]
rs11502985	0.83[AMR][1000 genomes]
rs11502986	0.83[AMR][1000 genomes]
rs11502987	0.83[AMR][1000 genomes]
rs11502989	0.83[AMR][1000 genomes]
rs11567790	1.00[AMR][1000 genomes]
rs12100002	0.83[AMR][1000 genomes]
rs12301071	0.83[AMR][1000 genomes]
rs16916733	0.83[AMR][1000 genomes]
rs28894833	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58426621	0.83[AMR][1000 genomes]
rs73242450	0.83[AMR][1000 genomes]
rs73244551	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73244564	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats 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	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	nsv1054331	chr12:7924713-8183422	Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	esv1797934	chr12:7985460-8214261	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
9	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
10	nsv541384	chr12:8003214-8188846	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
11	nsv1040972	chr12:8003413-8266291	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv541388	chr12:8003413-8266291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
13	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
14	esv2751118	chr12:8017473-8190206	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
15	nsv898729	chr12:8044997-8190206	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription 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 target site	55 gene(s)	inside rSNPs	diseases
16	nsv1045521	chr12:8123225-8242846	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription 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	36 gene(s)	inside rSNPs	diseases
17	nsv898732	chr12:8123306-8190206	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
18	nsv1044509	chr12:8130958-8182060	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
19	nsv1040958	chr12:8177050-8309724	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
20	nsv541396	chr12:8177050-8309724	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8171800-8178600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:8172200-8178600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:8172200-8178800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:8174200-8178600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:8174600-8178800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:8175000-8178600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:8175200-8178600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:8175400-8178600	Weak transcription	Primary T cells from cord blood	blood
9	chr12:8175400-8178600	Weak transcription	Fetal Stomach	stomach
10	chr12:8176600-8178600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:8176800-8178600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:8176800-8178600	Weak transcription	Fetal Intestine Small	intestine
13	chr12:8177800-8178600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:8178000-8178600	Enhancers	Fetal Brain Male	brain
15	chr12:8178000-8178600	Enhancers	GM12878-XiMat	blood
16	chr12:8178200-8178600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr12:8178200-8178600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:8178200-8178600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr12:8178200-8178800	Weak transcription	Stomach Mucosa	stomach
20	chr12:8178400-8178600	Enhancers	Primary B cells from cord blood	blood
21	chr12:8178400-8178600	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:8178400-8178600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:8178400-8178600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr12:8178400-8178600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:8178400-8178600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr12:8178400-8178600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:8178400-8178600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr12:8178400-8178600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr12:8178400-8178600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:8178400-8178600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr12:8178400-8178600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:8178400-8178600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr12:8178400-8178600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr12:8178400-8178600	Enhancers	Fetal Muscle Leg	muscle
35	chr12:8178400-8178600	Enhancers	Fetal Thymus	thymus
36	chr12:8178400-8178600	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr12:8178400-8178600	Enhancers	Thymus	Thymus
38	chr12:8178400-8178600	Active TSS	Hela-S3	cervix
39	chr12:8178400-8178600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr12:8178400-8178800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:8178400-8179000	Weak transcription	Spleen	Spleen
42	chr12:8178400-8179000	Flanking Active TSS	Dnd41	blood
43	chr12:8178400-8179200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
44	chr12:8178400-8180000	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr12:8178400-8180200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:8178400-8180600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:8178400-8180600	Active TSS	Brain Hippocampus Middle	brain

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