Variant report

Variant	rs12300833
Chromosome Location	chr12:105047218-105047219
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105046397..105050237-chr12:105053960..105056196,3	MCF-7	breast:
2	chr12:104594714..104595624-chr12:105047163..105048143,2	K562	blood:
3	chr12:105030575..105033014-chr12:105046316..105048917,2	K562	blood:
4	chr12:105047156..105050168-chr12:105050213..105054131,4	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12316883	1.00[ASN][1000 genomes]
rs12809841	1.00[CEU][hapmap]
rs12814959	1.00[CEU][hapmap]
rs34335293	0.88[EUR][1000 genomes]
rs58788113	0.88[EUR][1000 genomes]
rs7298251	1.00[ASN][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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105022400-105048200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:105033000-105050200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:105033400-105050200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:105033600-105050200	Weak transcription	Right Atrium	heart
5	chr12:105035400-105050200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:105035800-105054000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:105037600-105050200	Weak transcription	Osteobl	bone
8	chr12:105038000-105062000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:105038400-105050400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:105038400-105051600	Weak transcription	Aorta	Aorta
11	chr12:105038400-105053000	Weak transcription	NHEK	skin
12	chr12:105038400-105055400	Weak transcription	Gastric	stomach
13	chr12:105038400-105061200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:105038400-105062600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:105038600-105050400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:105038600-105057600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:105038600-105061000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:105038600-105061400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:105038600-105062400	Weak transcription	HMEC	breast
20	chr12:105038600-105062800	Weak transcription	Esophagus	oesophagus
21	chr12:105038600-105063200	Weak transcription	Primary T cells from cord blood	blood
22	chr12:105038800-105051000	Weak transcription	GM12878-XiMat	blood
23	chr12:105039200-105062200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:105041000-105047800	Weak transcription	Thymus	Thymus
25	chr12:105041200-105048400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:105041600-105054000	Strong transcription	Dnd41	blood
27	chr12:105041800-105048200	Weak transcription	Fetal Thymus	thymus
28	chr12:105042800-105047400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr12:105043000-105054000	Weak transcription	Brain Angular Gyrus	brain
30	chr12:105044000-105048200	Weak transcription	Fetal Stomach	stomach
31	chr12:105044200-105050200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:105044200-105050200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:105044200-105050400	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:105044400-105047400	Weak transcription	A549	lung
35	chr12:105044400-105048600	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr12:105044600-105049000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:105044600-105061600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:105045400-105048200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:105045600-105047800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:105045800-105047800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:105046000-105047400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:105046000-105047800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:105046000-105047800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:105046000-105048200	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:105046000-105048400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:105046000-105048600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:105046000-105048600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:105046000-105050600	Weak transcription	Adipose Nuclei	Adipose
49	chr12:105046000-105054000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:105046000-105058200	Weak transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links