Variant report

Variant	rs4758670
Chromosome Location	chr12:122785249-122785250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122785041..122787175-chr12:122792131..122794244,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10270	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10846470	0.84[EUR][1000 genomes]
rs12423987	0.88[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs12424872	0.87[CEU][hapmap];0.85[JPT][hapmap]
rs12425684	0.81[ASN][1000 genomes]
rs12578815	0.83[CHD][hapmap];0.85[JPT][hapmap]
rs12578953	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12580084	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12809220	0.90[ASN][1000 genomes]
rs12814923	0.88[CHD][hapmap]
rs12815512	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12816499	0.84[JPT][hapmap]
rs12820704	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs12822121	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs12824701	0.85[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs12824925	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs12825008	0.81[ASN][1000 genomes]
rs12825149	0.88[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs12825279	0.88[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs12828234	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12833379	0.87[EUR][1000 genomes]
rs1512023	0.86[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2063510	0.88[ASW][hapmap];0.87[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2068223	0.83[CHD][hapmap];0.85[JPT][hapmap]
rs2271409	0.88[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2277332	0.82[CEU][hapmap];0.84[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34325222	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34383196	0.81[ASN][1000 genomes]
rs35963777	0.81[ASN][1000 genomes]
rs3782153	0.86[ASN][1000 genomes]
rs3782154	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809116	0.82[CHD][hapmap];0.85[JPT][hapmap]
rs4567503	1.00[ASW][hapmap];0.87[CEU][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.91[MKK][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4758649	0.85[CHD][hapmap];0.90[JPT][hapmap]
rs4758650	1.00[ASW][hapmap];0.87[CEU][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.91[MKK][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4758671	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55741463	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59734396	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6488876	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7298397	0.82[EUR][1000 genomes]
rs7388	0.90[JPT][hapmap]
rs7957569	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7962385	1.00[ASW][hapmap];0.87[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.89[MKK][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7963144	0.88[EUR][1000 genomes]
rs7963565	1.00[ASW][hapmap];0.87[CEU][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.82[MKK][hapmap];0.82[EUR][1000 genomes]
rs7964911	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7965868	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7970027	0.88[ASW][hapmap];0.87[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.89[MKK][hapmap];0.92[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7972228	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs872451	0.81[CEU][hapmap]
rs907482	0.87[CEU][hapmap];0.84[CHB][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs907483	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9668064	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[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:118 , 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	chr12:122752000-122800600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:122752000-122802600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:122752400-122810400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:122754600-122822400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:122760200-122790400	Strong transcription	Placenta	Placenta
7	chr12:122763600-122785400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:122763600-122785400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:122763600-122787400	Weak transcription	Brain Angular Gyrus	brain
10	chr12:122763600-122792600	Weak transcription	Thymus	Thymus
11	chr12:122763600-122792800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:122763600-122812000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:122765600-122789800	Weak transcription	NHEK	skin
14	chr12:122765800-122803400	Weak transcription	K562	blood
15	chr12:122767000-122790000	Weak transcription	HMEC	breast
16	chr12:122770200-122821600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr12:122770400-122821800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:122775600-122800600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:122775600-122833600	Strong transcription	Liver	Liver
20	chr12:122775800-122791600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:122776000-122822200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:122778000-122808800	Weak transcription	Fetal Heart	heart
23	chr12:122778400-122792200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:122778600-122785400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:122778800-122786600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:122779000-122791400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:122779000-122794200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:122779400-122795400	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:122779800-122785600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:122779800-122788800	Strong transcription	HSMM	muscle
31	chr12:122780000-122794800	Strong transcription	Adipose Nuclei	Adipose
32	chr12:122780000-122827200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:122780400-122799200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:122780400-122812000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:122780400-122812600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:122780600-122787600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:122780800-122793200	Weak transcription	Fetal Kidney	kidney
38	chr12:122780800-122800800	Weak transcription	Fetal Lung	lung
39	chr12:122781000-122787800	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:122781000-122794200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:122781400-122821400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:122782000-122791200	Strong transcription	Duodenum Mucosa	Duodenum
43	chr12:122782200-122791200	Strong transcription	Fetal Intestine Small	intestine
44	chr12:122782400-122787800	Weak transcription	NHDF-Ad	bronchial
45	chr12:122782400-122792600	Weak transcription	Small Intestine	intestine
46	chr12:122782400-122794200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:122782600-122787600	Weak transcription	Hela-S3	cervix
48	chr12:122782600-122787800	Weak transcription	HUVEC	blood vessel
49	chr12:122782800-122785400	Weak transcription	Brain Substantia Nigra	brain
50	chr12:122782800-122786000	Weak transcription	Rectal Smooth Muscle	rectum

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