Variant report

Variant	rs60106911
Chromosome Location	chr12:120541089-120541090
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120540551-120541379	GM12892	blood:	n/a	n/a
2	POLR2A	chr12:120540845-120541791	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120539632..120542312-chr12:120549101..120550620,2	MCF-7	breast:
2	chr12:120534614..120537528-chr12:120540036..120541614,2	MCF-7	breast:
3	chr12:120537048..120541245-chr12:120553607..120557723,6	MCF-7	breast:
4	chr12:120539799..120542911-chr12:120545962..120548810,4	MCF-7	breast:
5	chr12:120537177..120551260-chr12:120551865..120557471,32	MCF-7	breast:
6	chr12:120538101..120541195-chr12:120726908..120731130,5	MCF-7	breast:
7	chr12:120539029..120543839-chr12:120726926..120732179,7	MCF-7	breast:
8	chr12:120536601..120538960-chr12:120539868..120542086,3	K562	blood:

No data

Variant related genes	Relation type
RAB35	TF binding region
ENSG00000111737	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1054631	1.00[ASN][1000 genomes]
rs16949854	1.00[ASN][1000 genomes]
rs16949862	1.00[ASN][1000 genomes]
rs16949870	1.00[ASN][1000 genomes]
rs16949914	1.00[ASN][1000 genomes]
rs2286041	1.00[ASN][1000 genomes]
rs28613380	1.00[ASN][1000 genomes]
rs56152568	0.94[ASN][1000 genomes]
rs56939014	0.88[ASN][1000 genomes]
rs57155388	1.00[ASN][1000 genomes]
rs57339959	1.00[ASN][1000 genomes]
rs57458743	1.00[ASN][1000 genomes]
rs59868595	1.00[ASN][1000 genomes]
rs60223336	1.00[ASN][1000 genomes]
rs60590470	0.88[ASN][1000 genomes]
rs61514727	1.00[ASN][1000 genomes]
rs6490279	0.88[ASN][1000 genomes]
rs6490282	1.00[ASN][1000 genomes]
rs7132099	0.89[ASN][1000 genomes]
rs7139151	1.00[ASN][1000 genomes]
rs7297564	1.00[ASN][1000 genomes]
rs7298081	1.00[ASN][1000 genomes]
rs7304560	1.00[ASN][1000 genomes]
rs7956221	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	94 gene(s)	inside rSNPs	diseases
6	nsv560434	chr12:120534147-120545718	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120525600-120551800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:120525800-120553400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:120527400-120546800	Strong transcription	Thymus	Thymus
4	chr12:120527600-120546000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:120529000-120546800	Strong transcription	Dnd41	blood
6	chr12:120529600-120543000	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:120529800-120542200	Strong transcription	Fetal Intestine Large	intestine
8	chr12:120532800-120541600	Weak transcription	K562	blood
9	chr12:120533600-120542800	Strong transcription	A549	lung
10	chr12:120533800-120553000	Weak transcription	Fetal Kidney	kidney
11	chr12:120534200-120542800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:120534200-120542800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:120534200-120542800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:120534400-120553200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:120534600-120546800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:120534600-120547200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:120534600-120548200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:120536000-120541800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:120536200-120543000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:120536800-120541200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:120536800-120541800	Genic enhancers	Esophagus	oesophagus
22	chr12:120537000-120543800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:120537400-120541600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:120537400-120541600	Genic enhancers	Gastric	stomach
25	chr12:120537400-120542400	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr12:120537400-120542600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr12:120537600-120541400	Genic enhancers	Fetal Muscle Leg	muscle
28	chr12:120537600-120541600	Genic enhancers	Fetal Muscle Trunk	muscle
29	chr12:120537800-120543400	Genic enhancers	Spleen	Spleen
30	chr12:120537800-120544400	Genic enhancers	Placenta	Placenta
31	chr12:120538200-120541200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr12:120538200-120543000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:120538400-120541200	Genic enhancers	Lung	lung
34	chr12:120538400-120541400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr12:120538600-120541400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:120538800-120541200	Genic enhancers	NHEK	skin
37	chr12:120539200-120541200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:120539200-120541200	Weak transcription	HMEC	breast
39	chr12:120539200-120541400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:120539200-120542400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:120539200-120552600	Weak transcription	Fetal Brain Male	brain
42	chr12:120539400-120541200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:120539400-120542200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
44	chr12:120539600-120541200	Genic enhancers	Adipose Nuclei	Adipose
45	chr12:120539600-120541400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:120539600-120541400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
47	chr12:120539600-120542000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:120539600-120542800	Weak transcription	Primary B cells from cord blood	blood
49	chr12:120539600-120545800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr12:120539600-120546600	Strong transcription	Fetal Brain Female	brain

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