Variant report

Variant	rs2888827
Chromosome Location	chr12:104999378-104999379
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104867859..104869379-chr12:104998403..105000393,2	K562	blood:
2	chr12:104989262..104996194-chr12:104996249..105001190,9	K562	blood:
3	chr12:104995476..104999568-chr12:105000294..105003603,4	MCF-7	breast:
4	chr12:104996638..104999382-chr12:105016902..105018701,2	K562	blood:
5	chr12:104997510..104999903-chr12:105002089..105003876,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10746004	0.94[EUR][1000 genomes]
rs10778342	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11112131	0.88[ASN][1000 genomes]
rs11836281	0.82[ASN][1000 genomes]
rs17035941	0.90[ASN][1000 genomes]
rs17035961	0.88[ASN][1000 genomes]
rs2162661	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3812796	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6539162	0.92[EUR][1000 genomes]
rs6539163	0.94[EUR][1000 genomes]
rs6539164	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7316145	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7972130	0.93[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	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1035364	chr12:104948307-105003705	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104989400-105030600	Strong transcription	Dnd41	blood
2	chr12:104993200-104999400	Weak transcription	Brain Germinal Matrix	brain
3	chr12:104993200-105006200	Weak transcription	Fetal Heart	heart
4	chr12:104993200-105012600	Weak transcription	Gastric	stomach
5	chr12:104993400-104999600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:104995400-105000000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:104996200-105000800	Enhancers	HSMMtube	muscle
8	chr12:104996600-105000200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:104996800-104999400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:104996800-105002600	Weak transcription	Fetal Brain Female	brain
11	chr12:104997200-104999800	Enhancers	Fetal Thymus	thymus
12	chr12:104997200-105000600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:104997200-105003800	Weak transcription	Fetal Brain Male	brain
14	chr12:104997200-105004600	Enhancers	Placenta	Placenta
15	chr12:104997400-105000000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:104997400-105000400	Enhancers	Adipose Nuclei	Adipose
17	chr12:104997600-104999600	Enhancers	Primary hematopoietic stem cells	blood
18	chr12:104997600-104999600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr12:104997600-105000000	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:104997600-105000400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr12:104997800-104999800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr12:104997800-105000600	Enhancers	Fetal Muscle Leg	muscle
23	chr12:104997800-105002200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:104998000-104999800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr12:104998000-105002600	Weak transcription	Brain Angular Gyrus	brain
26	chr12:104998000-105004400	Weak transcription	Stomach Mucosa	stomach
27	chr12:104998000-105008600	Weak transcription	Right Ventricle	heart
28	chr12:104998200-104999400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:104998200-104999400	Weak transcription	Fetal Stomach	stomach
30	chr12:104998200-104999600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:104998200-105003200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:104998200-105008400	Weak transcription	Esophagus	oesophagus
33	chr12:104998400-104999400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:104998400-104999400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:104998400-104999400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:104998400-104999400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:104998400-104999400	Weak transcription	Lung	lung
38	chr12:104998400-104999400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:104998400-104999600	Weak transcription	Thymus	Thymus
40	chr12:104998400-104999800	Enhancers	Stomach Smooth Muscle	stomach
41	chr12:104998400-105000000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr12:104998400-105000200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:104998400-105000200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:104998400-105000400	Enhancers	NHEK	skin
45	chr12:104998400-105001200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:104998400-105002400	Weak transcription	Brain Anterior Caudate	brain
47	chr12:104998400-105002600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr12:104998400-105002800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:104998400-105003400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:104998400-105005000	Weak transcription	Spleen	Spleen

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