Variant report

Variant	rs60370741
Chromosome Location	chr12:121966676-121966677
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	chr12:121961794..121963872-chr12:121965063..121967424,2	K562	blood:
2	chr12:121966142..121973158-chr12:121973289..121976781,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089094	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28397967	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28481788	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28520411	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28604990	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28663167	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28671138	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28687122	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28728162	0.85[EUR][1000 genomes]
rs28758996	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4981000	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560457	chr12:121956483-121976176	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	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	chr12:121932000-121974400	Weak transcription	NHEK	skin
2	chr12:121934800-121968200	Weak transcription	Small Intestine	intestine
3	chr12:121938200-121968600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:121938200-121971000	Weak transcription	Stomach Mucosa	stomach
5	chr12:121938200-121973800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:121938400-121968600	Weak transcription	Fetal Kidney	kidney
7	chr12:121938400-121973600	Weak transcription	Psoas Muscle	Psoas
8	chr12:121938800-121968600	Weak transcription	Right Atrium	heart
9	chr12:121938800-121970600	Weak transcription	Fetal Brain Male	brain
10	chr12:121943800-121968600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:121944000-121968400	Weak transcription	Osteobl	bone
12	chr12:121947600-121968200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:121947800-121968800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:121947800-121969400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:121947800-121973400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:121948000-121968400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:121948200-121973600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:121950200-121973800	Weak transcription	HSMMtube	muscle
19	chr12:121952400-121968400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:121952600-121968200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:121952600-121968600	Weak transcription	A549	lung
22	chr12:121953400-121970600	Strong transcription	Fetal Intestine Small	intestine
23	chr12:121954000-121967800	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:121957400-121968600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:121957400-121973200	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:121957600-121969200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:121957800-121968200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:121958600-121968400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:121958800-121968600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:121959000-121968400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:121959200-121974000	Weak transcription	Aorta	Aorta
32	chr12:121959400-121968600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:121959400-121968600	Weak transcription	Left Ventricle	heart
34	chr12:121959400-121972800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:121959600-121968600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:121959600-121968600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:121959600-121968600	Weak transcription	Ovary	ovary
38	chr12:121959600-121968600	Weak transcription	Pancreas	Pancrea
39	chr12:121961200-121968600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:121961400-121970600	Weak transcription	Colonic Mucosa	Colon
41	chr12:121961600-121968600	Weak transcription	Adipose Nuclei	Adipose
42	chr12:121961800-121968200	Weak transcription	NHLF	lung
43	chr12:121962000-121968600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:121962400-121968400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:121962400-121968800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:121962600-121968200	Weak transcription	Primary B cells from cord blood	blood
47	chr12:121962600-121968600	Weak transcription	Fetal Brain Female	brain
48	chr12:121962800-121968600	Weak transcription	Brain Germinal Matrix	brain
49	chr12:121963000-121968200	Weak transcription	Primary T cells from cord blood	blood
50	chr12:121963000-121968200	Strong transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links