Variant report

Variant	rs4758671
Chromosome Location	chr12:122770867-122770868
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122765667..122769072-chr12:122769086..122771792,4	K562	blood:
2	chr12:122762214..122764101-chr12:122770249..122772123,2	K562	blood:
3	chr12:122758759..122760741-chr12:122769190..122771578,2	K562	blood:
4	chr12:122766620..122768349-chr12:122769086..122771741,2	K562	blood:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10270	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10846470	0.83[EUR][1000 genomes]
rs12424872	0.86[EUR][1000 genomes]
rs12578953	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12580084	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12809220	0.88[ASN][1000 genomes]
rs12815512	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12828234	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12833379	0.87[EUR][1000 genomes]
rs2277332	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34325222	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3782154	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4567503	0.86[EUR][1000 genomes]
rs4758650	0.87[EUR][1000 genomes]
rs4758670	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55741463	0.83[EUR][1000 genomes]
rs59734396	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6488876	0.87[EUR][1000 genomes]
rs7298397	0.81[EUR][1000 genomes]
rs7957569	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7962385	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7963144	0.87[EUR][1000 genomes]
rs7963565	0.82[EUR][1000 genomes]
rs7964911	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7965868	0.87[EUR][1000 genomes]
rs7970027	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7972228	0.87[EUR][1000 genomes]
rs907482	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs907483	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9668064	0.84[AMR][1000 genomes];0.87[EUR][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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122751600-122803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122752000-122780000	Weak transcription	Fetal Kidney	kidney
3	chr12:122752000-122800600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:122752000-122802600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:122752400-122810400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:122754600-122822400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:122757600-122780200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:122759000-122782200	Weak transcription	Right Ventricle	heart
9	chr12:122760200-122790400	Strong transcription	Placenta	Placenta
10	chr12:122760400-122774800	Strong transcription	Liver	Liver
11	chr12:122763600-122771400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:122763600-122771600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:122763600-122771800	Weak transcription	Aorta	Aorta
14	chr12:122763600-122772000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:122763600-122775800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:122763600-122776000	Weak transcription	HUVEC	blood vessel
17	chr12:122763600-122779600	Weak transcription	Fetal Lung	lung
18	chr12:122763600-122781400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:122763600-122781800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:122763600-122781800	Weak transcription	Fetal Brain Male	brain
21	chr12:122763600-122781800	Weak transcription	Gastric	stomach
22	chr12:122763600-122781800	Weak transcription	Spleen	Spleen
23	chr12:122763600-122782000	Weak transcription	Colonic Mucosa	Colon
24	chr12:122763600-122782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:122763600-122782800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:122763600-122785200	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:122763600-122785400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:122763600-122785400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:122763600-122787400	Weak transcription	Brain Angular Gyrus	brain
30	chr12:122763600-122792600	Weak transcription	Thymus	Thymus
31	chr12:122763600-122792800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:122763600-122812000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:122763800-122771400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:122763800-122771600	Weak transcription	GM12878-XiMat	blood
35	chr12:122763800-122772000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:122763800-122772000	Weak transcription	Brain Substantia Nigra	brain
37	chr12:122763800-122779800	Weak transcription	Psoas Muscle	Psoas
38	chr12:122763800-122781600	Weak transcription	Small Intestine	intestine
39	chr12:122764000-122779800	Weak transcription	Primary B cells from cord blood	blood
40	chr12:122764000-122781800	Weak transcription	HepG2	liver
41	chr12:122764400-122780000	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:122765400-122771600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr12:122765600-122781600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr12:122765600-122789800	Weak transcription	NHEK	skin
45	chr12:122765800-122771600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr12:122765800-122771600	Weak transcription	Adipose Nuclei	Adipose
47	chr12:122765800-122782200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:122765800-122803400	Weak transcription	K562	blood
49	chr12:122766000-122771600	Weak transcription	Hela-S3	cervix
50	chr12:122766000-122778600	Weak transcription	Placenta Amnion	Placenta Amnion

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