Variant report

Variant	rs11112144
Chromosome Location	chr12:105046938-105046939
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	chr12:105046397..105050237-chr12:105053960..105056196,3	MCF-7	breast:
2	chr12:105030575..105033014-chr12:105046316..105048917,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10861261	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112143	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112145	0.88[ASN][1000 genomes]
rs12230909	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17815142	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2559644	0.84[ASN][1000 genomes]
rs73189329	0.85[AMR][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	chr12:105038600-105047200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:105038600-105050400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:105038600-105057600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:105038600-105061000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:105038600-105061400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:105038600-105062400	Weak transcription	HMEC	breast
21	chr12:105038600-105062800	Weak transcription	Esophagus	oesophagus
22	chr12:105038600-105063200	Weak transcription	Primary T cells from cord blood	blood
23	chr12:105038800-105047200	Weak transcription	K562	blood
24	chr12:105038800-105051000	Weak transcription	GM12878-XiMat	blood
25	chr12:105039200-105062200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:105041000-105047800	Weak transcription	Thymus	Thymus
27	chr12:105041200-105048400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:105041600-105054000	Strong transcription	Dnd41	blood
29	chr12:105041800-105048200	Weak transcription	Fetal Thymus	thymus
30	chr12:105042800-105047400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:105043000-105054000	Weak transcription	Brain Angular Gyrus	brain
32	chr12:105044000-105048200	Weak transcription	Fetal Stomach	stomach
33	chr12:105044200-105050200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:105044200-105050200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:105044200-105050400	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:105044400-105047400	Weak transcription	A549	lung
37	chr12:105044400-105048600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr12:105044600-105049000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:105044600-105061600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:105045200-105047200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr12:105045400-105048200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:105045600-105047800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:105045800-105047800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:105046000-105047400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:105046000-105047800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr12:105046000-105047800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:105046000-105048200	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:105046000-105048400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:105046000-105048600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:105046000-105048600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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