Variant report

Variant	rs4981000
Chromosome Location	chr12:121970346-121970347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121956002..121958678-chr12:121968184..121970506,2	MCF-7	breast:
2	chr12:121968721..121970386-chr12:121980067..121981656,2	MCF-7	breast:
3	chr12:121966142..121973158-chr12:121973289..121976781,9	MCF-7	breast:
4	chr12:121963430..121965799-chr12:121969024..121970843,2	K562	blood:
5	chr12:121969447..121972266-chr12:121972288..121974870,3	K562	blood:

Variant related genes	Relation type
ENSG00000089094	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs28373517	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28379971	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28397967	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28451063	0.86[EUR][1000 genomes]
rs28481788	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28520411	0.83[EUR][1000 genomes]
rs28604990	0.85[EUR][1000 genomes]
rs28620502	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28663167	0.84[EUR][1000 genomes]
rs28667673	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28671138	0.85[EUR][1000 genomes]
rs28687122	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28728162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28757753	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28758996	0.83[EUR][1000 genomes]
rs4981004	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4981013	0.83[AMR][1000 genomes]
rs4981016	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60370741	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121932000-121974400	Weak transcription	NHEK	skin
2	chr12:121938200-121971000	Weak transcription	Stomach Mucosa	stomach
3	chr12:121938200-121973800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:121938400-121973600	Weak transcription	Psoas Muscle	Psoas
5	chr12:121938800-121970600	Weak transcription	Fetal Brain Male	brain
6	chr12:121947800-121973400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:121948200-121973600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:121950200-121973800	Weak transcription	HSMMtube	muscle
9	chr12:121953400-121970600	Strong transcription	Fetal Intestine Small	intestine
10	chr12:121957400-121973200	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:121959200-121974000	Weak transcription	Aorta	Aorta
12	chr12:121959400-121972800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:121961400-121970600	Weak transcription	Colonic Mucosa	Colon
14	chr12:121963000-121971000	Weak transcription	Brain Angular Gyrus	brain
15	chr12:121963000-121973600	Weak transcription	Brain Substantia Nigra	brain
16	chr12:121966400-121973600	Weak transcription	Esophagus	oesophagus
17	chr12:121968000-121970400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:121968200-121970600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr12:121968200-121974600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:121968400-121972400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:121968400-121973000	Genic enhancers	Fetal Thymus	thymus
22	chr12:121968600-121970400	Strong transcription	Brain Germinal Matrix	brain
23	chr12:121968600-121970400	Strong transcription	Fetal Brain Female	brain
24	chr12:121968600-121971800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:121968600-121972000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:121968600-121972400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:121968600-121973600	Genic enhancers	Fetal Stomach	stomach
28	chr12:121968800-121970400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:121968800-121970800	Strong transcription	HepG2	liver
30	chr12:121968800-121971600	Genic enhancers	Lung	lung
31	chr12:121968800-121971800	Genic enhancers	Liver	Liver
32	chr12:121968800-121971800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
33	chr12:121968800-121972200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:121968800-121972400	Weak transcription	Small Intestine	intestine
35	chr12:121968800-121972800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:121969000-121970400	Weak transcription	Adipose Nuclei	Adipose
37	chr12:121969000-121970600	Weak transcription	Right Atrium	heart
38	chr12:121969000-121970600	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:121969000-121970800	Strong transcription	Gastric	stomach
40	chr12:121969000-121971200	Weak transcription	NHDF-Ad	bronchial
41	chr12:121969000-121971600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:121969000-121971800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:121969000-121972400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:121969000-121972600	Strong transcription	Thymus	Thymus
45	chr12:121969000-121973000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:121969000-121973200	Weak transcription	NH-A	brain
47	chr12:121969000-121973800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:121969000-121973800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:121969000-121973800	Weak transcription	HSMM	muscle
50	chr12:121969000-121973800	Weak transcription	Osteobl	bone

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