Variant report

Variant	rs4758667
Chromosome Location	chr12:122810925-122810926
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:122810888-122811006	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122806652..122808672-chr12:122809920..122812216,3	K562	blood:
2	chr12:122810184..122811861-chr12:122817902..122819649,2	K562	blood:

Variant related genes	Relation type
ENSG00000256304	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10161534	0.84[ASN][1000 genomes]
rs10734915	0.84[ASN][1000 genomes]
rs10773075	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10773088	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10773103	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10773104	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10846664	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10846699	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10846746	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10846764	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11057786	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11057797	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11836188	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12372756	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12581249	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1553179	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1803290	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1818050	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2173582	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2341439	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28730465	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3817011	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4039670	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4997380	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55834409	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6488933	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6488939	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6488951	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7294559	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7397299	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7952868	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7953007	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7956480	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7975747	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122754600-122822400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr12:122763600-122812000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:122770200-122821600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:122770400-122821800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:122775600-122833600	Strong transcription	Liver	Liver
6	chr12:122776000-122822200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:122780000-122827200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:122780400-122812000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:122780400-122812600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:122781400-122821400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:122785800-122827200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:122788200-122821200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:122791200-122841600	Strong transcription	Placenta	Placenta
14	chr12:122792400-122819800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:122794600-122811800	Weak transcription	Small Intestine	intestine
16	chr12:122794600-122832600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:122795800-122818200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:122797200-122814000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:122797200-122822400	Strong transcription	Fetal Muscle Leg	muscle
20	chr12:122798600-122813200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:122800400-122820600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:122802200-122812000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:122803800-122812000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:122804000-122811600	Weak transcription	Fetal Brain Male	brain
25	chr12:122804000-122811800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:122804000-122817000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:122804000-122817800	Weak transcription	Stomach Mucosa	stomach
28	chr12:122804200-122812000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:122804200-122812000	Weak transcription	Fetal Kidney	kidney
30	chr12:122804200-122812000	Weak transcription	K562	blood
31	chr12:122804200-122817400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:122804200-122839000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:122805600-122813000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:122806000-122811400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:122806000-122813000	Strong transcription	Adipose Nuclei	Adipose
36	chr12:122806200-122813800	Strong transcription	Fetal Brain Female	brain
37	chr12:122806200-122815000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:122806200-122821400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:122806400-122813000	Strong transcription	Duodenum Mucosa	Duodenum
40	chr12:122806400-122813000	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr12:122806400-122813000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr12:122806600-122813200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr12:122808200-122811000	Weak transcription	Brain Anterior Caudate	brain
44	chr12:122808200-122812000	Weak transcription	Psoas Muscle	Psoas
45	chr12:122808200-122812200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:122808400-122811800	Weak transcription	Ovary	ovary
47	chr12:122808600-122811200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:122808600-122812000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:122808600-122817400	Weak transcription	GM12878-XiMat	blood
50	chr12:122809200-122812000	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links