Variant report

Variant	rs2541114
Chromosome Location	chr12:11832443-11832444
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11826428..11828100-chr12:11830041..11832923,3	K562	blood:
2	chr12:11829531..11831196-chr12:11831568..11835696,3	MCF-7	breast:
3	chr12:11826577..11828100-chr12:11830041..11832923,2	K562	blood:
4	chr12:11831997..11833714-chr12:11839114..11840803,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16907060	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17210050	0.87[CEU][hapmap]
rs17745684	0.88[EUR][1000 genomes]
rs205530	0.84[EUR][1000 genomes]
rs205531	0.88[EUR][1000 genomes]
rs2541125	0.84[EUR][1000 genomes]
rs2856315	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7297979	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7959231	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7980119	0.84[EUR][1000 genomes];0.87[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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2541114	ETV6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11812200-11832600	Weak transcription	A549	lung
2	chr12:11812200-11837400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:11815000-11836800	Weak transcription	NHEK	skin
4	chr12:11815000-11850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:11815200-11833800	Weak transcription	Colonic Mucosa	Colon
6	chr12:11815200-11837800	Weak transcription	NH-A	brain
7	chr12:11820200-11841000	Weak transcription	Fetal Intestine Small	intestine
8	chr12:11822000-11850000	Weak transcription	HMEC	breast
9	chr12:11822200-11851000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:11826000-11837600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:11826000-11837800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:11826000-11838800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:11826000-11851200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:11826200-11838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:11826200-11839200	Weak transcription	HepG2	liver
16	chr12:11827200-11833200	Enhancers	Colon Smooth Muscle	Colon
17	chr12:11827400-11834200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:11827800-11851800	Weak transcription	Ovary	ovary
20	chr12:11828000-11833800	Weak transcription	HSMM	muscle
21	chr12:11828000-11834200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:11828000-11836800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:11828000-11837800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:11828600-11832600	Strong transcription	Primary B cells from cord blood	blood
25	chr12:11828600-11833600	Enhancers	Fetal Heart	heart
26	chr12:11828800-11836600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:11829000-11834200	Genic enhancers	Fetal Thymus	thymus
28	chr12:11829200-11837800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:11829400-11833400	Weak transcription	Osteobl	bone
30	chr12:11829400-11836400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:11829400-11837000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:11829400-11840400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:11829400-11840600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr12:11829400-11845000	Weak transcription	Psoas Muscle	Psoas
35	chr12:11829600-11835200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:11829600-11835800	Weak transcription	Fetal Intestine Large	intestine
37	chr12:11829600-11837800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:11829600-11837800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:11829600-11837800	Weak transcription	Right Atrium	heart
40	chr12:11829600-11838000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr12:11829600-11839600	Weak transcription	Placenta	Placenta
42	chr12:11829800-11835800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:11829800-11837800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:11829800-11839200	Weak transcription	Fetal Stomach	stomach
45	chr12:11830000-11832800	Strong transcription	GM12878-XiMat	blood
46	chr12:11830000-11839200	Weak transcription	Liver	Liver
47	chr12:11830200-11834000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:11830400-11836800	Weak transcription	Adipose Nuclei	Adipose
49	chr12:11830400-11840600	Weak transcription	Fetal Kidney	kidney
50	chr12:11830600-11834400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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