Variant report

Variant	rs2278216
Chromosome Location	chr12:51773557-51773558
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51773051..51775258-chr12:51776409..51779975,3	K562	blood:
2	chr12:51771653..51774170-chr12:51775864..51778994,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139629	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2519	0.82[CHB][hapmap]

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	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1038285	chr12:51762953-51916723	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51751200-51783400	Weak transcription	Right Atrium	heart
2	chr12:51753200-51781400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:51763600-51777400	Weak transcription	K562	blood
4	chr12:51764400-51777000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:51765600-51783200	Weak transcription	Esophagus	oesophagus
6	chr12:51765800-51777400	Strong transcription	Duodenum Mucosa	Duodenum
7	chr12:51765800-51781800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:51766000-51775000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:51766000-51777000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:51766000-51777000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:51766200-51775000	Weak transcription	HMEC	breast
12	chr12:51766200-51776600	Strong transcription	Fetal Intestine Small	intestine
13	chr12:51766200-51777400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:51766400-51774200	Strong transcription	NHEK	skin
15	chr12:51766400-51775200	Weak transcription	Fetal Kidney	kidney
16	chr12:51766400-51775200	Weak transcription	HSMM	muscle
17	chr12:51766400-51781800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:51766600-51775000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:51766800-51773800	Strong transcription	Fetal Intestine Large	intestine
20	chr12:51766800-51775600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:51767000-51774000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:51767000-51775400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:51767200-51773800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:51767200-51778000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:51767200-51778200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr12:51767400-51777000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:51768000-51774000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:51768000-51774000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:51768000-51774000	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr12:51768000-51775600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:51768000-51778800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:51768200-51773800	Strong transcription	Brain Substantia Nigra	brain
33	chr12:51768200-51777400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr12:51768400-51775600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:51768800-51775200	Weak transcription	HSMMtube	muscle
36	chr12:51768800-51775600	Weak transcription	NH-A	brain
37	chr12:51768800-51781800	Weak transcription	Osteobl	bone
38	chr12:51769000-51776200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:51769000-51781400	Weak transcription	Placenta	Placenta
40	chr12:51769400-51773800	Strong transcription	NHLF	lung
41	chr12:51769400-51775200	Weak transcription	HUVEC	blood vessel
42	chr12:51769400-51775200	Weak transcription	NHDF-Ad	bronchial
43	chr12:51769400-51781400	Weak transcription	Adipose Nuclei	Adipose
44	chr12:51769600-51775400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr12:51769800-51773800	Strong transcription	Brain Hippocampus Middle	brain
46	chr12:51770000-51775600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:51770400-51773800	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:51770600-51773800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:51770600-51773800	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr12:51770600-51774000	Strong transcription	Placenta Amnion	Placenta Amnion

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