Variant report

Variant	rs214646
Chromosome Location	chr12:47701260-47701261
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47588063..47588826-chr12:47701122..47701777,2	MCF-7	breast:
2	chr12:47580383..47583206-chr12:47700567..47702450,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263838	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1421358	0.91[ASN][1000 genomes]
rs214643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214644	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214649	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214650	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs214651	0.91[ASN][1000 genomes]
rs214652	0.91[ASN][1000 genomes]
rs214653	0.91[ASN][1000 genomes]
rs214654	0.91[ASN][1000 genomes]
rs214689	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs214690	0.81[EUR][1000 genomes]
rs855121	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs855128	0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47693400-47701400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:47696600-47701400	Weak transcription	K562	blood
3	chr12:47697800-47701400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:47697800-47701400	Weak transcription	Esophagus	oesophagus
5	chr12:47698200-47701400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:47698400-47701400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:47700200-47701600	Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr12:47700600-47701400	Active TSS	Primary B cells from cord blood	blood
9	chr12:47700600-47701600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:47700800-47701400	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr12:47700800-47701400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:47700800-47701400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:47700800-47701400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:47700800-47701600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr12:47700800-47701600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:47700800-47701600	Active TSS	Duodenum Mucosa	Duodenum
17	chr12:47700800-47701600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr12:47700800-47701600	Flanking Active TSS	Thymus	Thymus
19	chr12:47700800-47701800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr12:47700800-47701800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr12:47700800-47701800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:47700800-47701800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr12:47700800-47701800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:47700800-47701800	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr12:47700800-47701800	Active TSS	Rectal Smooth Muscle	rectum
26	chr12:47700800-47702000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:47701000-47701400	Active TSS	Primary B cells from peripheral blood	blood
28	chr12:47701000-47701400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:47701000-47701400	Active TSS	Brain Anterior Caudate	brain
30	chr12:47701000-47701400	Active TSS	Fetal Thymus	thymus
31	chr12:47701000-47701600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr12:47701000-47701600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:47701000-47701600	Active TSS	Colonic Mucosa	Colon
34	chr12:47701000-47701800	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr12:47701000-47701800	Enhancers	HMEC	breast
36	chr12:47701000-47701800	Enhancers	NH-A	brain
37	chr12:47701000-47702000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr12:47701000-47702000	Flanking Active TSS	A549	lung
39	chr12:47701200-47701400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr12:47701200-47701400	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr12:47701200-47701600	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr12:47701200-47701600	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr12:47701200-47701600	Active TSS	Brain Substantia Nigra	brain
44	chr12:47701200-47701600	Active TSS	Spleen	Spleen
45	chr12:47701200-47701600	Flanking Active TSS	GM12878-XiMat	blood
46	chr12:47701200-47701800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr12:47701200-47701800	Active TSS	Brain Hippocampus Middle	brain
48	chr12:47701200-47701800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr12:47701200-47701800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr12:47701200-47701800	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links